DNA Brain Health Test

About this test

Key Benefits

• Brain Health Genetic Insights: Analyzes 256 genes linked to cognitive function, mood, stress response and mental wellbeing.

• Relevant for Focus, Mood and Stress: May provide insight into genetic tendencies related to attention, memory, emotional balance and stress resilience.

• Personalized Recommendations: Receive guidance related to lifestyle, nutrition and habits based on your genetic profile.

• Digital Results in 3 to 5 Weeks: Access your DNA report online when the analysis is complete.

What This Test Measures

Cognitive Function and Memory
Provides insight into genetic markers linked to memory, learning, information processing and long term cognitive performance.

Stress Response and Emotional Balance
Looks at genes involved in how the body may respond to stress and regulate emotional patterns over time.

Mood and Anxiety Related Tendencies
Includes markers connected to biological pathways that may influence mood regulation, stress sensitivity and anxiety related tendencies.

Focus, Attention and Behavior
Analyzes genetic markers related to attention, motivation, habits, reward pathways and behavioral patterns.

Brain Health and Long Term Wellbeing
Includes genes linked to cellular protection, inflammation related pathways and biological processes that may support long term brain health.

How It Works

1. Order Your Kit
Purchase your DNA Brain Health Test online.

2. Collect Your Sample
Collect a saliva sample at home using the included collection kit.

3. Send It Back
Mail your sample to the laboratory using the included return materials.

4. Receive Your Results
Access your digital DNA report online in 3 to 5 weeks.

Saliva Sample Collection

The sample is collected using a simple saliva test at home. You provide a saliva sample in the collection tube and send it to the laboratory for analysis according to the included instructions.

ISO Certified Lab and Analysis

Your sample is analyzed in an ISO certified laboratory using the Illumina GSA Microarray, a SNP genotyping method used to analyze selected genetic variations.

Biomarkers included

• RBPJ: RBPJ (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region): RBPJ is a key transcription factor in the Notch signaling pathway, which plays a critical role in regulating cell fate, differentiation, and development. Proper function of RBPJ is essential for tissue development and cell specialization, while dysregulation of RBPJ and Notch signaling is associated with various disease
• BIN1: BIN1 (Bridging Integrator 1): BIN1 is a protein that plays a key role in regulating cellular membrane dynamics. It is involved in important processes like endocytosis and shaping membrane curvature. BIN1 functions as a bridging factor, helping to form membrane tubules that are essential for multiple cellular activities.
• MAPT: MAPT (Microtubule Associated Protein Tau): MAPT is a gene that encodes the tau protein, which helps stabilize microtubules in neurons. Abnormal tau aggregation is associated with neurodegenerative diseases such as Alzheimer’s disease and frontotemporal dementia, making MAPT a key focus of research into neuronal health and disease mechanisms.
• GLRX3: GLRX3 (Glutaredoxin 3): GLRX3 is a protein belonging to the glutaredoxin family that helps maintain the cell’s redox balance by catalyzing the reversible oxidation and reduction of protein disulfide bonds. This function is essential for protecting cells from oxidative stress, which can cause cellular damage and contribute to conditions such as cancer, cardiovascular disease, and neurodegenerative
• PSAP: PSAP (Prosaposin): PSAP is a precursor protein that is processed into saposins, which are essential for the breakdown of lipids within lysosomes. These saposins play a key role in preventing the accumulation of complex lipids in cells. Deficiencies or mutations in PSAP can lead to lysosomal storage disorders, including Gaucher disease, Fabry disease, and metachromatic leukodystrophy.
• METTL14: METTL14 (Methyltransferase Like 14): METTL14 is a component of the complex responsible for N6-methyladenosine (m6A) RNA modification, a process essential for regulating RNA metabolism and function. Changes in METTL14 activity can influence gene expression and have been linked to the development of certain cancers.
• MC4R: MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor that plays a key role in regulating energy balance, appetite, and body weight. Mutations in MC4R are among the most common genetic causes of obesity, highlighting its importance in controlling energy homeostasis. It is also a target for developing obesity treatments.
• PPFIA2: PPFIA2 (PTPRF Interacting Protein Alpha 2): PPFIA2 is a protein belonging to the liprin family that plays a key role in cell communication and adhesion. It is involved in regulating the formation and maintenance of synapses, especially within the central nervous system. PPFIA2 influences the development and plasticity of neural networks, and changes in its function may be linked to neurological di
• HTR2A: HTR2A (5-Hydroxytryptamine Receptor 2A): HTR2A is a receptor for serotonin, a neurotransmitter involved in regulating mood, anxiety, and cognition. It has been linked to several psychiatric disorders, including depression, schizophrenia, and anxiety disorders. Variations in HTR2A are frequently studied in psychopharmacology and psychiatric genetics.
• ZNF584: ZNF584 (Zinc Finger Protein 584): ZNF584 is a member of the zinc finger protein family, typically involved in DNA binding and gene regulation. Although its specific functions are not fully defined, ZNF584 may contribute to transcriptional regulation, affecting various cellular processes and potentially influencing developmental pathways or disease mechanisms.
• PITX1: PITX1 (Paired Like Homeodomain 1): PITX1 is a transcription factor essential for the development of hindlimb structures and the pituitary gland. Mutations in PITX1 can cause developmental disorders such as Liebenberg syndrome, which is characterized by malformations of the upper limbs.
• ELFN2: ELFN2 (Extracellular Leucine-Rich Repeat and Fibronectin Type III Domain Containing 2): ELFN2 is a gene that encodes a protein featuring leucine-rich repeat and fibronectin type III domains. These domains are important for cell adhesion, signaling, and interactions with the extracellular matrix. ELFN2 is especially significant for neural development and synaptic plasticity, where it may help regul
• MAGI3: MAGI3 (Membrane Associated Guanylate Kinase, WW, and PDZ Domain Containing 3): MAGI3 is a scaffolding protein that plays a key role in the assembly of multiprotein complexes at cell junctions and in signal transduction pathways. It is involved in cellular processes such as epithelial cell polarity and may contribute to cancer development, particularly through its roles in cell-cell adhesion and si
• EIF3M: EIF3M (Eukaryotic Translation Initiation Factor 3 Subunit M): EIF3M is a part of the eukaryotic translation initiation factor 3 (eIF3) complex, which is essential for protein synthesis. EIF3M plays a key role in the initiation phase of translation and is important for overall protein production in cells. Changes in EIF3M can affect cellular growth and proliferation.
• KRTAP7-1: KRTAP7-1 (Keratin Associated Protein 7-1): KRTAP7-1 is a member of the keratin-associated protein family, contributing to the structure and properties of hair fibers. It plays an important role in determining hair texture and strength. Variations in KRTAP7-1 and other keratin-associated proteins can influence hair characteristics and are significant in the study of hair and scalp disorders.
• RMI2: RMI2 (RecQ Mediated Genome Instability 2): RMI2 is a protein that plays a vital role as part of a complex involved in maintaining genomic stability. It is essential for repairing DNA double-strand breaks and resolving DNA recombination structures. Proper function of RMI2 helps prevent genomic instability, which is a critical factor in cancer development and progression.
• SLC39A8: SLC39A8 (Solute Carrier Family 39 Member 8) is a gene that encodes a transporter protein responsible for the cellular uptake of important divalent metals like zinc and manganese. This protein helps maintain metal ion balance, which is essential for immune function, brain development, and other biological processes. Variations in SLC39A8 have been linked to several health conditions, including cong
• RAB1A: RAB1A (RAB1A, Member RAS Oncogene Family): RAB1A is a gene that encodes a protein belonging to the RAB family of small GTPases, which regulate different aspects of vesicle trafficking. RAB1A specifically controls transport between the endoplasmic reticulum and the Golgi apparatus, playing a key role in maintaining efficient protein transport and processing within the cell.
• CNOT2: CNOT2 (CCR4-NOT Transcription Complex Subunit 2): CNOT2 is a component of the CCR4-NOT complex, which plays a crucial role in regulating gene expression, including the turnover and degradation of mRNA. It is involved in various aspects of RNA metabolism and can affect cellular processes such as development, differentiation, and stress response.
• CRHR1: CRHR1 (Corticotropin-Releasing Hormone Receptor 1): CRHR1 is a receptor for corticotropin-releasing hormone, a key regulator of the body’s stress response. It plays a central role in the hypothalamic-pituitary-adrenal (HPA) axis, influencing stress regulation, mood, and behavior. Dysregulation of CRHR1 has been linked to psychiatric conditions such as depression and anxiety.
• CRYBB2: CRYBB2 (Crystallin Beta-B2): CRYBB2 is a protein that belongs to the crystallin family and is predominantly found in the lens of the eye. It is essential for maintaining lens transparency and refractive properties. CRYBB2 supports the structural integrity of the lens and is critical for proper vision.
• FAAH: FAAH (Fatty Acid Amide Hydrolase): FAAH is an enzyme that breaks down endocannabinoids, which play important roles in pain sensation, mood regulation, and appetite. By modulating endocannabinoid signaling, FAAH is a target of interest for developing therapies aimed at pain relief, anxiety, and certain neurological disorders.
• PDCD6IP: PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP is a protein that reflects the balance and regulation of key cellular processes. Also known as ALIX, it is involved in endocytosis, membrane repair, and cell death pathways. PDCD6IP plays a critical role in multivesicular body formation and the budding of enveloped viruses, such as HIV. Dysfunctions in PDCD6IP are associated with neuro
• PSMC1: PSMC1 (Proteasome 26S Subunit, ATPase 1): PSMC1 is a gene that encodes a protein component of the 26S proteasome, which is responsible for degrading ubiquitinated proteins. It plays a key role in maintaining protein homeostasis within cells by removing damaged or misfolded proteins and contributes to the regulation of cellular processes such as the cell cycle and stress responses.
• PEX2: PEX2 (Peroxisomal Biogenesis Factor 2): PEX2 is a gene essential for the formation and maintenance of peroxisomes — cellular organelles involved in lipid metabolism and detoxifying reactive oxygen species. Mutations in PEX2 can cause peroxisomal disorders, such as Zellweger syndrome, which is marked by severe developmental and neurological impairments.
• UNC119B: UNC119B (UNC-119 Homolog B) is a gene involved in the transport of proteins to cilia—specialized cellular structures essential for signaling and sensory functions. It plays a key role in the development and maintenance of photoreceptor cells in the retina. Disruption of UNC119B function can impair ciliary activity and may contribute to retinal disorders and vision loss.
• LRFN5: LRFN5 (Leucine Rich Repeat and Fibronectin Type III Domain Containing 5): LRFN5 is a member of the LRFN family of proteins. It is involved in neuronal development and synaptic function, playing a role in the formation and maintenance of neural circuits. Dysfunctions in LRFN5 may contribute to neurodevelopmental disorders.
• CSMD1: CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene involved in brain development and neural function. It is believed to contribute to immune system regulation and synaptic plasticity. Variations in CSMD1 have been linked to neuropsychiatric conditions, including schizophrenia and cognitive abilities.
• ACP1: ACP1 (Acid Phosphatase 1, Soluble) is a gene that encodes an enzyme involved in multiple cellular processes, including signal transduction and energy metabolism. It exists in several isoforms with distinct roles, influencing immune function and cellular signaling. Variations in ACP1 have been associated with increased susceptibility to certain autoimmune disorders and metabolic conditions.
• MYH15: MYH15 (Myosin Heavy Chain 15):MYH15 is a gene that encodes a myosin heavy chain protein, primarily expressed in skeletal muscle. Myosins are motor proteins essential for muscle contraction and cellular movement. While the specific functions of MYH15 are still under investigation, it may play a role in muscle development and overall muscle function.
• RTN4: RTN4 (Reticulon 4): RTN4 is a protein, also known as Nogo, that plays a key role in regulating nerve fiber growth in the central nervous system. It is significant in the context of spinal cord injury and neurodegenerative diseases, as it can inhibit axon regeneration. RTN4 has been a focus of research aimed at promoting neural repair and regeneration.
• MSRA: MSRA (Methionine Sulfoxide Reductase A): MSRA is an enzyme that helps protect cells from oxidative stress by repairing oxidatively damaged proteins. It reduces methionine sulfoxide back to methionine, supporting protein function and overall cellular health. Its antioxidant activity is important for healthy aging and may play a role in preventing diseases linked to oxidative damage, including neuro
• MROH2A: MROH2A (Maestro Heat-Like Repeat Family Member 2A): MROH2A is a protein belonging to a family characterized by maestro heat-like repeats, which are thought to be involved in lipid metabolic processes. While its precise functions remain unclear, MROH2A may contribute to cellular lipid metabolism and could have implications for metabolic disorders. Studying its role may provide insights into metabol
• FOXJ2: FOXJ2 (Forkhead Box J2): FOXJ2 is a transcription factor from the forkhead box (FOX) family — a group of proteins that regulate gene expression involved in growth, cell proliferation, and differentiation. FOXJ2 participates in multiple biological processes, and its dysregulation can disrupt developmental pathways and contribute to certain disease conditions.
• ALCAM: ALCAM (Activated Leukocyte Cell Adhesion Molecule) is a protein that plays a key role in cell-to-cell adhesion, enabling cells to interact, migrate, and target specific locations in the body. It is involved in critical processes such as nerve development, immune regulation, and tissue repair. Dysregulation of ALCAM has been linked to cancer metastasis, autoimmune disorders, and other pathological
• DCDC2: DCDC2 (Doublecortin Domain Containing 2): DCDC2 is a gene involved in neuronal migration and differentiation, especially during brain development. It plays an important role in cognitive processing and language development, and has been linked to dyslexia and other learning disabilities.
• PRR16: PRR16 (Proline Rich 16): PRR16 is a less characterized protein, potentially involved in cellular processes due to its proline-rich domain. These domains are often implicated in protein-protein interactions, suggesting a role in cellular signaling or structural functions.
• COMT: COMT (Catechol-O-Methyltransferase): COMT is an enzyme that plays a key role in the metabolism of catecholamines, including dopamine, epinephrine, and norepinephrine. It is important for regulating neurotransmitter levels in the brain and is linked to psychiatric disorders such as schizophrenia. COMT also contributes to the body’s pain response and has been studied in relation to pain sensitivity
• KIAA1109: KIAA1109: KIAA1109 is a gene associated with a range of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. While its exact function is not fully understood, it is thought to play a key role in immune regulation and the body’s inflammatory responses. Studying KIAA1109 is important for understanding the genetic basis of autoimmune disor
• ATP5PD: ATP5PD (ATP Synthase Peripheral Stalk Subunit DAPIT) is a protein subunit of mitochondrial ATP synthase, an enzyme complex essential for cellular energy production. It contributes to the synthesis of ATP — the main energy currency of cells — and supports mitochondrial integrity, playing a critical role in sustaining overall cellular metabolism.
• DAB1: DAB1 (Disabled Homolog 1): DAB1 is a protein essential for brain development, particularly in controlling the positioning and migration of neurons. It plays a key role in the Reelin signaling pathway, which guides the organization of brain structures during early development. Mutations in DAB1 can lead to neurological disorders by disrupting the formation of proper neural networks.
• GLYCTK: GLYCTK (Glycerate Kinase): GLYCTK is an enzyme that plays a key role in the metabolism of glycerate, a compound involved in the glycolysis and gluconeogenesis pathways. Proper function of GLYCTK is important for energy metabolism, and dysfunctions in this enzyme have been linked to D-glyceric aciduria, a rare metabolic disorder.
• BARHL2: BARHL2 (BarH-Like Homeobox 2): BARHL2 is a homeobox transcription factor that plays a key role in neural development. It is involved in the differentiation and specification of certain neuronal cell types during embryogenesis, helping shape the formation of a functional nervous system.
• TANC1: TANC1 (Tetratricopeptide Repeat, Ankyrin Repeat, and Coiled-Coil Containing 1): TANC1 is a protein involved in synaptic function and neural development. It plays a role in the formation and maintenance of synapses — the junctions through which neurons communicate. Dysfunctions in TANC1 may affect neural connectivity and have been studied in relation to neurodevelopmental disorders.
• CRHR2: CRHR2 (Corticotropin-Releasing Hormone Receptor 2): CRHR2 is a protein that binds corticotropin-releasing hormone, helping regulate the body’s response to stress. It is involved in stress signaling, metabolic regulation, and cardiovascular function, and has been studied for its links to anxiety and heart-related conditions.
• NUAK1: NUAK1 (NUAK Family SnF1-Like Kinase 1): NUAK1 is a gene that encodes a protein kinase involved in regulating the cell cycle and energy metabolism. It plays a role in cell growth, migration, and survival, and ongoing research is exploring its potential impact on cancer progression and metabolic disorders.
• PKNOX1: PKNOX1 (PBX/Knotted 1 Homeobox 1): PKNOX1 is a transcription factor involved in regulating gene expression during development and cellular differentiation. It plays a role in embryogenesis and may influence hematopoietic cell development. Dysregulation of PKNOX1 can contribute to developmental abnormalities.
• TCF4: TCF4 (Transcription Factor 4): TCF4 is a transcription factor essential for nervous system development. It participates in neurodevelopmental processes and has been associated with psychiatric disorders such as schizophrenia. Through its role in gene regulation, TCF4 is critical for proper brain development and function.
• SP9: SP9 (Sp9 Transcription Factor): SP9 is a protein that acts as a transcription factor, playing a key role in brain development. It is essential for regulating genes in neural progenitor cells and has been studied for its involvement in neurodevelopmental processes and related disorders.
• LRRC37A: LRRC37A (Leucine Rich Repeat Containing 37A): LRRC37A is a gene located in a complex genomic region and is associated with brain development. It has been linked to neurodevelopmental disorders, such as autism spectrum disorder, though its precise role and underlying mechanisms remain under investigation.
• XKR6: XKR6 (XK Related 6) is a gene that encodes a protein belonging to the XK family, which may be involved in transmembrane transport. Although its exact function is not yet fully understood, XKR6 could play a role in cellular processes important for human health.
• OOSP1: OOSP1 (Oocyte Secreted Protein 1): OOSP1 is primarily expressed in oocytes and plays a role in early embryonic development. It may contribute to the maturation of oocytes and regulate processes during fertilisation and early embryogenesis. Its function is essential for reproductive health and successful embryonic development.
• HSD17B11: HSD17B11 (Hydroxysteroid 17-Beta Dehydrogenase 11): HSD17B11 is an enzyme involved in the metabolism of steroids and fatty acids. It participates in converting androgen and estrogen precursors and may help regulate sex hormone levels. Additionally, HSD17B11 plays a role in lipid metabolism and could be relevant to metabolic disorders.
• R3HCC1L: R3HCC1L (R3H Domain and Coiled-Coil Containing 1-Like): R3HCC1L is a gene that is less well characterized but is believed to be involved in RNA binding and regulation. Its domain structure suggests a role in RNA metabolism and cellular processes. Although its precise functions are still being studied, R3HCC1L may have implications for human health and disease.
• DPY19L3: DPY19L3 (Dpy-19 Like 3): DPY19L3 is a member of the DPY19 family, a group of proteins potentially involved in transmembrane transport or protein trafficking. While its exact functions and impact on human health are not yet fully understood, it may play important roles in cellular processes.
• PCDH20: PCDH20 (Protocadherin 20): PCDH20 is a member of the protocadherin family, a group of proteins involved in cell-cell adhesion and signaling, especially within the nervous system. PCDH20 plays a key role in neural development and connectivity, supporting the formation and maintenance of neural networks. Dysfunctions in PCDH20 have been linked to neurodevelopmental disorders and may impact cognitive
• CTBP2: CTBP2 (C-Terminal Binding Protein 2) is a gene that encodes a transcriptional co-repressor involved in regulating gene expression. It plays a key role in developmental processes and may influence cancer-related pathways by modulating the activity of tumor suppressor genes and oncogenes.
• CAMKMT: CAMKMT (Calmodulin-Lysine N-Methyltransferase): CAMKMT is an enzyme that modifies calmodulin by methylation, a protein involved in calcium signaling. This modification helps regulate calmodulin’s interaction with target proteins, influencing various calcium-dependent processes such as muscle contraction, cell division, and memory formation.
• TTYH2: TTYH2 (Tweety Family Member 2): TTYH2 is a gene that encodes a protein belonging to the Tweety family. This protein is known to have ion channel activity, particularly involving chloride ions. Proteins in the Tweety family play important roles in ion transport across cell membranes, contributing to cellular homeostasis, regulation of cell volume, and maintenance of ion balance. While the full func
• IGFBP3: IGFBP3 (Insulin-Like Growth Factor Binding Protein 3) is a protein that binds to insulin-like growth factors (IGFs), controlling their availability and activity in the body. This regulation influences cell growth, development, and metabolism. IGFBP3 is closely studied in cancer research, as it can either suppress or promote IGF effects depending on the cellular environment, making it a significant
• TRIB3: TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a protein that plays a role in multiple cellular processes, including stress response, cell proliferation, and metabolism. It functions as a modulator of signaling pathways and has been linked to the development of conditions such as insulin resistance, cancer, and cardiovascular diseases.
• SARDH: SARDH (Sarcosine Dehydrogenase): SARDH is an enzyme involved in the metabolism of sarcosine, an intermediate in the conversion of choline to glycine. It plays a key role in one-carbon metabolism, which is important for processes such as DNA methylation. Dysfunctions in SARDH can impact metabolic pathways and have been linked to certain metabolic disorders.
• NELL1: NELL1 (NEL Like 1): is a protein involved in bone and cartilage growth and regeneration. It plays a key role in skeletal development and has been linked to osteochondral diseases and bone healing. Research on NELL1 is important for understanding skeletal biology and for developing therapies for bone-related disorders and injuries.
• FPR1: FPR1 (Formyl Peptide Receptor 1) is a receptor that plays a key role in the immune system by guiding neutrophils to sites of infection or inflammation. It detects formyl peptides, which act as signals indicating the presence of microbial invaders, helping the body mount an effective immune response.
• NR5A2: NR5A2 (Nuclear Receptor Subfamily 5 Group A Member 2): NR5A2, also known as LRH-1, is a nuclear receptor that regulates key processes such as cholesterol balance, bile acid production, and steroid hormone synthesis. It also plays an important role in pancreatic development and function. Altered NR5A2 activity has been linked to metabolic disorders and several cancers, especially those affecting th
• CSNK1G1: CSNK1G1 (Casein Kinase 1 Gamma 1) is a gene that encodes a protein from the casein kinase 1 family, involved in key cellular processes such as cell division, circadian rhythm regulation, and Wnt signaling. Through its role in Wnt signaling, CSNK1G1 may influence development and has potential relevance in cancer biology.
• TMEM245: TMEM245 (Transmembrane Protein 245): TMEM245 is a protein located in the cell membrane, though its precise functions remain unclear. It may participate in processes related to membrane dynamics or intracellular trafficking. Further research is needed to clarify its role in cellular physiology and its potential links to disease.
• MYC: MYC (MYC Proto-Oncogene, BHLH Transcription Factor): The MYC is a well-known oncogene that plays a central role in cell cycle regulation, apoptosis, and cellular transformation. As a transcription factor, it controls the expression of numerous genes involved in key cellular processes. Overexpression of MYC is common in many cancers, making it a major focus of oncology research. Understanding MYC r
• HERC2: HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2): HERC2 is an E3 ubiquitin-protein ligase that plays a key role in the ubiquitin–proteasome system, which regulates protein degradation. It is involved in diverse cellular processes, including DNA repair and pigment production, particularly in determining eye color. Variations in HERC2 are linked to neurodevelopmental disorders an
• DLC1: DLC1 (Deleted in Liver Cancer 1) is a tumor suppressor gene that plays a key role in controlling cell behavior. It encodes a Rho GTPase-activating protein, which helps regulate cell shape, movement, and growth. Loss or inactivation of DLC1 is common in various cancers, and restoring its function is being investigated as a potential cancer therapy.
• CHD6: CHD6 (Chromodomain Helicase DNA Binding Protein 6) is a gene that encodes a protein involved in chromatin remodeling, which helps regulate gene expression and maintain genomic stability. This protein plays a key role in cellular development and differentiation, and disruptions in its function have been associated with certain cancers.
• MLKL: MLKL (Mixed Lineage Kinase Domain-Like): MLKL is a protein that plays a central role in necroptosis, a regulated form of programmed cell death. It is involved in mediating inflammatory responses and has been linked to various conditions, including neurodegenerative diseases, ischemic injury, and viral infections.
• TSPAN5: TSPAN5 (Tetraspanin 5): TSPAN5 is a gene that encodes a protein from the tetraspanin family, which is involved in cell signaling, adhesion, and migration. Tetraspanins help organize various cellular processes and play important roles in immune system function and cancer metastasis. TSPAN5 may also contribute to neural development and synaptic function, though its precise roles and impact on health
• B3GALNT1: B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1) is an enzyme that plays a key role in glycosylation, a process essential for proper protein function. It helps produce specific glycan structures important for cell-cell adhesion and signaling. Mutations in B3GALNT1 can cause muscular dystrophy-dystroglycanopathy, a group of disorders that impact muscle function.
• ANAPC4: ANAPC4 (Anaphase Promoting Complex Subunit 4) is a protein that forms part of the anaphase-promoting complex/cyclosome (APC/C), a crucial regulator of the cell cycle. It helps tag specific proteins for degradation, thereby controlling the timely progression of cells through different stages of division. Proper function of ANAPC4 is essential for normal cell cycle regulation, and its dysregulation
• PFKP: PFKP (Phosphofructokinase, Platelet): PFKP is a key enzyme in the glycolytic pathway that regulates the rate of glucose metabolism. It catalyzes the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Proper regulation of PFKP is essential for cellular energy production, and its dysregulation has been studied in cancer, where altered glucose metabolism is commonly observed.
• NRXN1: NRXN1 (Neurexin 1): NRXN1 is a neuronal cell adhesion molecule that reflects its role in synapse formation and function. It is essential for proper neural communication and has been associated with several neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, and intellectual disability.
• SRR: SRR (Serine Racemase): SRR is an enzyme that catalyzes the production of D-serine, a co-agonist of the NMDA receptor. Both are essential for neurotransmission and synaptic plasticity in the brain. Changes in SRR activity can impact glutamatergic signaling and have been associated with neurodegenerative diseases like Alzheimer’s and psychiatric disorders such as schizophrenia, highlighting its impo
• TEK: TEK (TEK receptor tyrosine kinase): TEK, also known as TIE2, is a receptor tyrosine kinase primarily expressed in endothelial cells. It plays a crucial role in angiogenesis and the maintenance of blood vessel integrity. TEK signaling is essential for vascular development and has been implicated in various vascular diseases, including venous malformations and angiosarcoma. Its role in angiogenesis
• IREB2: IREB2 (Iron Responsive Element Binding Protein 2): IREB2 is a gene that plays a key role in iron metabolism by regulating genes involved in iron storage and transport. It helps maintain iron balance in the body by binding to iron-responsive elements (IREs) in the mRNA of these genes, controlling their stability and translation. Proper function of IREB2 is essential to prevent iron-related health i
• MPHOSPH6: MPHOSPH6 (M-Phase Phosphoprotein 6): MPHOSPH6 is a protein involved in regulating the cell cycle, particularly during mitosis. It plays an essential role in ensuring proper cell division and has been studied in the context of cancer, where disruptions in cell cycle control are a common characteristic.
• ATP5MK: ATP5MK (ATP Synthase Membrane Subunit K) is a component of the mitochondrial ATP synthase complex, essential for producing ATP during cellular respiration. It supports cellular energy metabolism, and impairments in its function can disrupt energy balance, potentially leading to metabolic disorders.
• IKZF1: IKZF1 (IKAROS Family Zinc Finger 1): IKZF1 is a gene that encodes a zinc finger transcription factor essential for immune cell development and differentiation, particularly in B cells. Mutations in IKZF1 are common in B-cell acute lymphoblastic leukemia (B-ALL), underscoring its key role in hematopoiesis and immune regulation. Its interactions with other genes and its role in maintaining immune ba
• IRX6: IRX6 (Iroquois Homeobox 6) is a gene that encodes a transcription factor from the Iroquois homeobox family, known for its role in early embryonic development. It contributes to the formation and patterning of organs and tissues, particularly in the heart and craniofacial regions. Alterations in IRX6 may be linked to developmental abnormalities and are of interest in studies of congenital and crani
• DOCK3: DOCK3 (Dedicator Of Cytokinesis 3) is a protein that plays a key role in remodeling the actin cytoskeleton and regulating cell movement. It is especially important in the nervous system, where it supports neural development and synaptic function. Dysregulation of DOCK3 has been associated with neurodegenerative diseases.
• ESD: ESD (Esterase D) is a gene that encodes an enzyme involved in the breakdown of ester compounds within the body. It plays a role in cellular metabolism and detoxification. ESD is also considered a potential biomarker for certain cancers, such as retinoblastoma, and may be useful in studying metabolic pathways and monitoring disease progression.
• SCAMP1: SCAMP1 (Secretory Carrier Membrane Protein 1): SCAMP1 is a protein involved in membrane trafficking processes, particularly in the recycling of membrane proteins and in exocytosis. It plays a key role in cellular communication and the transport of substances within cells, which is essential for various cellular functions.
• SHLD1: SHLD1 (Shieldin Complex Subunit 1) is a protein that is part of the shieldin complex, which plays a vital role in DNA repair. It is involved in fixing double-strand breaks through non-homologous end joining, a critical process for preserving genomic stability and preventing mutations.
• MRPL39: RPL39 (Mitochondrial Ribosomal Protein L39): MRPL39 is a gene that encodes a protein component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. This process supports the production of mitochondrial respiratory chain components, which are critical for cellular energy generation. MRPL39 plays a key role in mitochondrial function, and its dysfunction may contribute to dis
• PRB2: PRB2 (Proline-Rich Protein BstNI Subfamily 2): PRB2 is a protein involved in oral and salivary biology. It plays a key role in the formation of the dental pellicle and the defense of the oral mucosa. As part of the proline-rich protein family, PRB2 is important for maintaining oral health and protecting against dental caries and other oral diseases.
• HS3ST4: HS3ST4 (Heparan Sulfate-Glucosamine 3-Sulfotransferase 4): HS3ST4 is an enzyme involved in modifying heparan sulfate, a key component of the extracellular matrix. This modification plays an important role in cell signaling and blood coagulation. Dysregulation of HS3ST4 can affect cellular interactions and may have implications in cancer and vascular disorders.
• MITF: MITF (Melanocyte Inducing Transcription Factor): MITF is a key regulator that reflects the role of MITF in the development and function of melanocytes, the cells responsible for pigment production. It is essential for normal pigmentation, and mutations in MITF can lead to pigmentary disorders and increase the risk of melanoma, a type of skin cancer. MITF also contributes to the development of cert
• EXOC5: EXOC5 (Exocyst Complex Component 5): EXOC5 is a gene that encodes a protein component of the exocyst, a complex involved in vesicle trafficking. It plays a key role in directing vesicles to specific sites on the plasma membrane, supporting processes such as cellular communication, secretion, and membrane growth.
• ANO3: ANO3 (Anoctamin 3) is a gene that encodes a calcium-activated chloride channel involved in smooth muscle function and neurological processes. Mutations in ANO3 are linked to movement disorders such as dystonia, highlighting its role in neuromuscular signaling and muscle control.
• ZNF799: ZNF799 (Zinc Finger Protein 799): ZNF799 is a member of the zinc finger protein family, known for their role in DNA binding and transcriptional regulation. While the specific functions of ZNF799 are not fully understood, its zinc finger motifs suggest it may be involved in regulating gene expression, potentially influencing various cellular processes and playing a role in development or disease.
• OLIG1: OLIG1 (Oligodendrocyte Transcription Factor 1): OLIG1 is a transcription factor that regulates the development and maturation of oligodendrocytes — the cells responsible for producing myelin in the central nervous system. It plays a vital role in myelination, a process essential for efficient nerve signal transmission. Alterations or mutations in OLIG1 can disrupt myelin formation and are linked t
• PKD2L2: PKD2L2 is a gene that encodes a protein belonging to the polycystin family, associated with calcium channel activity and cellular signaling. While its exact role in kidney function or disease is not fully understood, PKD2L2 may influence calcium homeostasis and broader cellular signaling processes.
• C1ORF87: C1ORF87 (Chromosome 1 Open Reading Frame 87): C1ORF87 is a gene that remains less characterized, with its function in human biology not yet fully understood. Genes labeled as "open reading frames" (ORFs) are often under active research to uncover their roles in cellular processes and their possible impacts on health and disease.
• MPPED1: MPPED1 (Metallophosphoesterase Domain Containing 1): MPPED1 is a protein believed to belong to the metallophosphoesterase family, indicating a role in phosphatase activity and metal ion regulation. Its expression in the brain suggests a potential function in neural development and brain activity. Studying MPPED1 may offer valuable insights into neurological processes and disorders, especially thos
• DPPA2: DPPA2 (Developmental Pluripotency-Associated 2): DPPA2 is a gene associated with pluripotency and involved in regulating embryonic stem cell identity. It plays a role in maintaining the undifferentiated state of these stem cells and is part of the molecular machinery that controls gene expression linked to pluripotency.
• CHRM3: CHRM3 (Cholinergic Receptor Muscarinic 3): CHRM3 is a receptor for acetylcholine (ACh) that plays a key role in various physiological functions, including smooth muscle contraction and glandular secretion. Dysregulation of CHRM3 is associated with conditions such as asthma and overactive bladder syndrome.
• ADRA1A: ADRA1A (Adrenoceptor Alpha 1A): ADRA1A is a gene that encodes a subtype of alpha-1-adrenergic receptors, which are involved in the body’s responses to adrenaline and noradrenaline. These receptors play a key role in smooth muscle contraction and cardiovascular function, including blood pressure regulation and vascular tone. Changes in ADRA1A activity may influence cardiovascular health and autonom
• HLA-DPB1: HLA-DPB1 (Major Histocompatibility Complex, Class II, DP Beta 1): HLA-DPB1 is a gene that encodes a protein essential for the immune system’s ability to identify and respond to foreign substances. It plays a key role in antigen presentation and is important in autoimmune disease development and transplant compatibility.
• OR5H14: OR5H14 (Olfactory Receptor Family 5 Subfamily H Member 14): OR5H14 is part of the olfactory receptor (OR) gene family, which is responsible for detecting and binding odor molecules. These receptors play a key role in the sense of smell. The specific ligands and precise function of OR5H14 in olfaction are not yet fully understood, but it contributes to the complexity and diversity of smell percepti
• CDH12: CDH12 (Cadherin 12): CDH12 is a member of the cadherin superfamily, proteins that mediate cell-cell adhesion. It is primarily expressed in the nervous system and plays a key role in neural development and connectivity. Alterations in CDH12 have been linked to neurodevelopmental disorders due to its influence on brain structure and function.
• EGFLAM: EGFLAM (EGF-Like, Fibronectin Type III and Laminin G Domain Containing): EGFLAM is a gene that encodes a protein featuring domains commonly found in extracellular matrix proteins. These domains suggest roles in cell adhesion, signaling, and tissue development. While the precise functions of EGFLAM are still being studied, it is thought to be important in supporting cellular communication and struc
• GNL3: GNL3 (Guanine Nucleotide Binding Protein-Like 3): GNL3 is a protein involved in regulating cell proliferation and maintaining stem cells. Also known as nucleostemin, GNL3 plays a key role in controlling the cell cycle in both stem cells and cancer cells. It has been studied for its potential involvement in tumor development and cellular aging.
• SPPL3: SPPL3 (Signal Peptide Peptidase-Like 3) is an enzyme in the intramembrane-cleaving protease family that processes certain transmembrane proteins. By releasing intracellular domains from its substrates, SPPL3 influences cellular signaling and regulation. It plays a key role in immune system function, including B cell maturation, and has been linked to some autoimmune conditions. Studying SPPL3 help
• RORA: RORA (RAR-Related Orphan Receptor A): RORA is a nuclear receptor involved in regulating circadian rhythms, immune responses, and neurodevelopment. It controls the expression of genes related to these processes and has been associated with conditions such as depression, bipolar disorder, and autoimmune diseases. Its roles in both the central nervous system and immune system highlight its significan
• AXIN2: AXIN2 (Axin 2) is a gene that encodes a protein involved in the Wnt signaling pathway, a key regulator of cell growth, differentiation, and development. It acts as a negative regulator of this pathway, helping maintain normal cellular processes. Mutations in AXIN2 have been associated with cancers, including colorectal cancer, as well as developmental conditions such as tooth agenesis.
• PTPRT: PTPRT (Protein Tyrosine Phosphatase, Receptor Type T): PTPRT is a gene that encodes a protein belonging to the protein tyrosine phosphatase family, which is important for cell signaling. It plays a role in regulating cellular processes such as cell growth and differentiation. Mutations in PTPRT have been linked to several cancers, particularly colorectal cancer, due to its involvement in signaling
• DPYSL5: DPYSL5 (Dihydropyrimidinase Like 5): DPYSL5 is a member of a protein family involved in neurodevelopment, particularly in axonal growth and guidance. It plays a role in neuronal repair and has been studied for its relevance in neurodegenerative diseases.
• TPH2: TPH2 (Tryptophan Hydroxylase 2): TPH2 is an enzyme that is crucial for the production of serotonin, a neurotransmitter that helps regulate mood, sleep, and appetite. TPH2 is mainly found in the brain and is key to central serotonin synthesis. Variations in the TPH2 gene have been associated with psychiatric disorders such as depression and bipolar disorders.
• DRD5: DRD5 (Dopamine Receptor D5): DRD5 is a gene that encodes a receptor sharing similarities with DRD1. It plays a role in cognitive and emotional processes and is involved in the brain’s response to neurotransmitters. DRD5 is also a target for certain pharmacological treatments of psychiatric and neurological disorders.
• SDK1: SDK1 (Sidekick Cell Adhesion Molecule 1): SDK1 is a protein that plays a key role in cell adhesion and synaptic organization. It is important for the formation of neural circuits, especially in the visual system, and contributes to proper neural connectivity and communication.
• PBRM1: PBRM1 (Polybromo 1): PBRM1 is a subunit of the SWI/SNF chromatin remodeling complex that helps regulate gene expression by modifying chromatin structure. It acts as a tumor suppressor, and mutations in PBRM1 have been linked to several cancers, especially clear cell renal cell carcinoma. Its role in chromatin remodeling is essential for preserving genomic integrity and supporting normal cell funct
• ADH1B: ADH1B (Alcohol Dehydrogenase 1B): ADH1B is a gene that encodes an enzyme involved in the first step of alcohol metabolism, converting ethanol into acetaldehyde. Genetic variations in ADH1B can influence the rate of alcohol metabolism, affecting alcohol tolerance and the risk of alcohol-related diseases.
• DGKB: DGKB (Diacylglycerol Kinase Beta) is an enzyme that plays a key role in lipid signaling by converting diacylglycerol into phosphatidic acid. It is involved in important cellular processes such as insulin sensitivity and neurotransmitter signaling. Changes in DGKB function have been linked to metabolic disorders and are studied in relation to conditions like diabetes and obesity.
• FGGY: FGGY (FGGY Carbohydrate Kinase Domain Containing) is a gene that encodes a protein involved in carbohydrate metabolism. While its specific functions are not yet fully understood, proteins in this family typically play roles in energy production and may be linked to metabolic processes and disorders.
• ASCC3: MICB (MHC Class I Polypeptide-Related Sequence B) is a gene that encodes a stress-induced protein involved in immune system activation. It serves as a ligand for the NKG2D receptor on natural killer (NK) cells and some T cells, helping the immune system recognize and respond to infected or transformed cells. MICB expression increases under conditions of cellular stress, such as viral infection or
• CHMP3: CHMP3 (Charged Multivesicular Body Protein 3): CHMP3 is a key component of the ESCRT-III complex (Endosomal Sorting Complex Required for Transport III). It plays an essential role in the formation of multivesicular bodies and is involved in sorting ubiquitinated membrane proteins for degradation in lysosomes, helping regulate cellular protein turnover and membrane trafficking.
• LINGO1: LINGO1 (Leucine Rich Repeat and Ig Domain Containing 1): LINGO1 is a protein that plays a critical role in neural development, especially in the myelination of neurons. It functions as a negative regulator of oligodendrocyte differentiation and myelination. LINGO1 has been linked to neurodegenerative diseases such as multiple sclerosis and Parkinson’s disease. Inhibiting LINGO1 is being studied as
• NRDE2: NRDE2 (NRDE-2, Necessary For RNA Interference, Domain Containing): NRDE2 is a gene believed to be involved in RNA interference, a process that regulates gene expression. It may play a role in post-transcriptional gene regulation, influencing various cellular functions. While less characterized, NRDE2 is thought to contribute to important cellular processes.
• GLIS3: GLIS3 (GLIS Family Zinc Finger 3): GLIS3 is a transcription factor involved in regulating gene expression across various biological processes, including thyroid hormone signaling and pancreatic beta-cell development. Mutations in GLIS3 have been associated with disorders such as congenital hypothyroidism and neonatal diabetes, highlighting its key role in endocrine function and development.
• NT5C2: NT5C2 (5'-Nucleotidase, Cytosolic II): NT5C2 is an enzyme that helps regulate nucleotide levels in cells, particularly in purine metabolism. It has been associated with chemotherapy resistance in certain leukemias and may play a role in purine metabolism disorders.
• LRRTM4: LRRTM4 (Leucine-Rich Repeat Transmembrane Neuronal 4): LRRTM4 encodes a transmembrane protein primarily expressed in neurons. It plays an important role in synaptic transmission and synaptic adhesion. Its localization at synapses and interactions with other synaptic proteins highlight its significance in neural circuitry, neuronal connectivity, and potentially in neurodevelopmental disorders.
• OPCML: OPCML (Opioid Binding Protein/Cell Adhesion Molecule Like): OPCML is a glycosylphosphatidylinositol-anchored protein involved in cell adhesion and signaling. It has been identified as a tumor suppressor, with its expression often reduced in various cancers, indicating a protective role against tumor development and progression.
• SGCD: SGCD (Sarcoglycan Delta): SGCD is a protein that is part of the dystrophin-glycoprotein complex, essential for maintaining muscle integrity and function. Mutations in SGCD are linked to limb-girdle muscular dystrophy, a group of genetic disorders characterized by progressive weakening and wasting of the muscles around the hips and shoulders.
• HHEX: HHEX (Hematopoietically Expressed Homeobox): HHEX is a transcription factor that regulates genes involved in embryonic development and blood cell formation. It plays key roles in the development of the liver, thyroid, and pancreas, as well as in the differentiation of blood cells. Altered HHEX activity has been linked to developmental disorders and certain cancers, including leukemia.
• RBM17: RBM17 (RNA Binding Motif Protein 17): RBM17 is a protein involved in RNA splicing, a key process in gene expression. It plays an important role in regulating alternative splicing, which affects the variety of proteins that can be produced from a single gene. Alterations in RBM17 may have implications in diseases such as cancer, where disrupted splicing can influence cell growth and survival.
• HNF4G: HNF4G (Hepatocyte Nuclear Factor 4 Gamma): HNF4G is a transcription factor that plays a key role in liver development and function. It regulates genes involved in glucose and lipid metabolism and contributes to the development of the pancreas and kidneys. Dysregulation of HNF4G can affect metabolic processes and has been linked to diabetes and liver diseases.
• PMM1: PMM1 (Phosphomannomutase 1): PMM1 is an enzyme in the mannose pathway, playing a key role in glycosylation — a process essential for the proper function and stability of many proteins. Mutations in PMM1 can result in congenital disorders of glycosylation, impacting multiple systems, including neurological and immune functions.
• TEF: TEF (Thyrotrophic Embryonic Factor): TEF is a member of the PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family. TEF plays a key role in regulating the circadian rhythm and controlling the expression of clock-dependent genes. It is essential for maintaining daily physiological cycles, including metabolism and hormone secretion. Dysregulation of TEF can af
• ATP10B: ATP10B (ATPase Phospholipid Transporting 10B): ATP10B is a gene that encodes a protein belonging to the P-type ATPase family, involved in transporting lipids across cellular membranes. While its specific functions are not fully understood, ATP10B may play an important role in lipid metabolism and maintaining cellular homeostasis, with potential links to neurodegenerative diseases such as Parkinson
• AP2A2: AP2A2 (Adaptor-Related Protein Complex 2 Alpha 2 Subunit) is a key component of the AP-2 adaptor complex, which plays an essential role in clathrin-mediated endocytosis. This process is critical for the internalization of receptors and proteins into cells, influencing cell signaling and nutrient absorption. Dysregulation of AP2A2 can impact neuronal development and synaptic function, with possible
• ZNF516: ZNF516 (Zinc Finger Protein 516): ZNF516 is a transcriptional regulator that can act as either a repressor or activator in gene expression pathways controlling cell differentiation, proliferation, and apoptosis. It plays a critical role in cardiac development and function, with dysregulation linked to cardiovascular diseases. ZNF516 has also been associated with tumor suppression, making it a pote
• MRPS18C: MRPS18C (Mitochondrial Ribosomal Protein S18C): MRPS18C is a component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a key role in producing proteins that are part of the mitochondrial respiratory chain. Dysfunction in MRPS18C can impact mitochondrial function and energy metabolism, potentially contributing to mitochondrial disorders.
• NKAIN3: NKAIN3 (Na+/K+ Transporting ATPase Interacting 3): NKAIN3 plays a role in regulating the Na+/K+ ATPase, crucial for maintaining ion gradients across cell membranes. Its function is vital for neuronal activity, especially in controlling neuronal excitability and signal transmission. Malfunctions in NKAIN3 may impact neural communication and have consequences for neurological conditions.
• ARL4A: ARL4A (ADP-Ribosylation Factor-Like 4A) is a protein belonging to the ADP-ribosylation factor (ARF) family of small GTPases. It plays an important role in regulating intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in processes such as membrane remodeling, vesicle formation, and membrane fusion within cells.
• KAT2B: KAT2B (Lysine Acetyltransferase 2B): KAT2B, also known as PCAF, encodes an enzyme involved in histone acetylation, a process essential for regulating gene expression. It contributes to DNA repair, cell cycle control, and apoptosis, and plays a key role in transcription regulation and chromatin remodeling. KAT2B has been linked to cancer development and certain developmental disorders.
• GSDMB: GSDMB (Gasdermin B): GSDMB is a member of the gasdermin family, involved in regulating cell death and inflammation. It has been linked to susceptibility to asthma and autoimmune diseases. Due to its role in inflammatory responses, GSDMB is considered a potential target for therapeutic interventions in these conditions.
• RGS18: RGS18 (Regulator of G Protein Signaling 18): RGS18 is a protein that reflects the regulation of G protein-coupled receptor signaling, particularly in hematopoietic cells. It plays important roles in platelet function and immune responses, and its dysregulation may affect blood coagulation and contribute to immune system disorders.
• ZMYM6: ZMYM6 (Zinc Finger MYM-Type Containing 6) is a gene that encodes a zinc finger protein potentially involved in transcriptional regulation and chromatin remodeling. It may contribute to controlling gene expression and has been explored in relation to blood-related cancers. While its exact role in normal and disease states is still being investigated, ZMYM6 is considered relevant to genomic regulati
• CACHD1: CACHD1 (Cache Domain Containing 1): CACHD1 is a relatively less-characterized gene that is thought to be involved in ion channel regulation and neuronal signaling. It may influence synaptic transmission and play a role in overall nervous system function.
• PSD3: PSD3 (Pleckstrin And Sec7 Domain Containing 3) is a gene that encodes a protein involved in intracellular trafficking and signaling. It contains a Sec7 domain, which is associated with guanine nucleotide exchange factors that activate ARF GTPases, key players in vesicle formation and trafficking. Dysfunction in PSD3 may impact cellular communication and transport processes.
• LRRC4C: LRRC4C (Leucine Rich Repeat Containing 4C): LRRC4C is a protein, also known as NGL-1, that plays a role in neural development, particularly in the formation and regulation of synaptic connections. It has been studied for its potential involvement in neurodevelopmental disorders.
• TAS2R5: TAS2R5 (Taste 2 Receptor Member 5): TAS2R5 is a bitter taste receptor in humans that plays a key role in detecting bitterness. These receptors help identify potentially harmful substances in food. Variations in TAS2R5 and other taste receptors can affect dietary preferences and nutritional choices, which may influence metabolism and overall health.
• STEAP1B: STEAP1B (STEAP Family Member 1B) is a protein belonging to the Six Transmembrane Epithelial Antigen of the Prostate (STEAP) family. It is involved in metalloreduction, specifically the reduction of iron and copper ions. STEAP1B plays a role in regulating cellular iron homeostasis and metabolism, which are essential for numerous physiological functions. While its precise role in human health and di
• NT5DC2: NT5DC2 (5'-Nucleotidase Domain Containing 2): NT5DC2 is an enzyme that may be involved in nucleotide metabolism. While its specific biological functions are not fully characterized, enzymes in this family generally play important roles in purine and pyrimidine metabolism, which are essential for DNA and RNA synthesis, cellular signaling, and energy transfer.
• ADH1A: ADH1A (Alcohol Dehydrogenase 1A) is a gene that encodes an enzyme involved in the breakdown of alcohol in the liver. It catalyzes the conversion of ethanol to acetaldehyde, a key step in alcohol metabolism. Variations in ADH1A can influence how the body processes alcohol and may affect individual susceptibility to alcohol-related conditions.
• SPATA7: SPATA7 (Spermatogenesis Associated 7): SPATA7 is a gene important for the development of the eye and reproductive system. Mutations in SPATA7 are associated with retinal degenerative diseases such as Leber congenital amaurosis and retinitis pigmentosa, both of which lead to progressive vision loss.
• SMIM21: SMIM21 (Small Integral Membrane Protein 21) is a gene that encodes a membrane protein with a still unclear role in cellular functions. It may be involved in signaling or transport processes within the cell, but further research is needed to understand its specific functions and potential impact on health and disease.
• RASGRF2: RASGRF2 (RAS Protein-Specific Guanine Nucleotide-Releasing Factor 2): RASGRF2 is a guanine nucleotide exchange factor that activates RAS proteins, playing a key role in signal transduction. It's involved in synaptic plasticity and memory formation in the brain. Dysregulation of RASGRF2 has been implicated in the development of certain types of cancer and in cognitive functions.
• SLC6A2: SLC6A2 (Solute Carrier Family 6 Member 2) is a protein that functions as the norepinephrine transporter, responsible for the reuptake of norepinephrine into presynaptic nerve terminals. This transporter plays a key role in regulating mood, alertness, and stress response. It is also a target for certain antidepressant medications. Dysfunctions in SLC6A2 are associated with psychiatric and neurologi
• ADH4: ADH4 (Alcohol Dehydrogenase 4) is an enzyme belonging to the alcohol dehydrogenase family. It plays a key role in the metabolism of different alcohols, including ethanol. Additionally, ADH4 is involved in converting retinol (vitamin A) into retinaldehyde, a critical step for vision and overall retinoid metabolism.
• GNAQ: GNAQ (G Protein Subunit Alpha Q): GNAQ is a subunit of G proteins that plays a key role in transmitting signals from the cell surface to the interior. Mutations in GNAQ have been associated with certain tumors, including uveal melanoma, as well as Sturge-Weber syndrome, a disorder affecting the skin and nervous system.
• ZCCHC7: ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is a member of the zinc finger protein family, known for their roles in DNA binding and gene regulation. Although its exact function is not fully understood, ZCCHC7 is believed to participate in processes such as transcriptional regulation, RNA processing, and DNA repair, influencing various cellular activities and potentially contributing to dis
• CADM2: CADM2 (Cell Adhesion Molecule 2): CADM2 is a protein involved in the central nervous system, particularly in synaptic organization and function. It plays an important role in cognitive processes such as learning and memory. Variants in CADM2 have been linked to neuropsychiatric disorders and addictive behaviors.
• PSG9: PSG9 (Pregnancy-Specific Glycoprotein 9): PSG9 is a gene that encodes a protein from the pregnancy-specific glycoprotein family, which is involved in immune regulation during pregnancy. These proteins may help support maternal tolerance of the fetus and contribute to fetal development. While the specific role of PSG9 is still being studied, it may influence reproductive health and pregnancy outcom
• PCCB: PCCB (Propionyl-CoA Carboxylase Beta Chain): PCCB is an enzyme involved in the metabolism of specific amino acids, fatty acids, and cholesterol. Mutations in PCCB can cause propionic acidemia, a rare metabolic disorder marked by the buildup of toxic substances, which can lead to neurological and systemic symptoms.
• GPSM1: GPSM1 (G Protein Signaling Modulator 1) is a gene involved in regulating G protein signaling pathways, which are essential for cellular responses to external signals. It plays a role in cell polarization and directional movement. GPSM1 has been studied for its potential involvement in cancer, particularly in tumor cell migration and invasion.
• FOXQ1: FOXQ1 (Forkhead Box Q1): FOXQ1 is a member of the forkhead box family of transcription factors that regulate gene expression related to cell growth, proliferation, and differentiation. FOXQ1 plays a key role in the development and progression of various cancers, particularly by influencing the epithelial-mesenchymal transition process.
• NRP2: NRP2 (Neuropilin 2): NRP2 is a receptor involved in angiogenesis and lymphangiogenesis as well as neuronal regulation. It binds to vascular endothelial growth factors and semaphorins, influencing the development of blood vessels and nerves. NRP2 plays a role in carcinogenesis, particularly in tumor angiogenesis and metastasis, as well as in developmental processes....
• DRD3: DRD3 (Dopamine Receptor D3): DRD3 is a gene that encodes a dopamine receptor subtype expressed in the brain. It is involved in regulating cognitive, emotional, and motor functions. Variants in DRD3 have been studied for their potential roles in schizophrenia, Parkinson’s disease, and susceptibility to addictive behaviors.
• BCL11B: BCL11B (B-Cell CLL/Lymphoma 11B) is a transcription factor that plays a key role in the development and differentiation of T-cells, as well as in neuronal development. Proper regulation of BCL11B is essential for immune function and brain development. Mutations or dysregulation of BCL11B have been associated with certain blood cancers, such as T-cell acute lymphoblastic leukemia, and with neurodev
• SELENOM: SELENOM (Selenoprotein M): SELENOM is a member of the selenoprotein family, proteins that incorporate selenium. It is primarily found in the brain and is believed to have antioxidant properties. While its exact role in neurological function is not fully understood, SELENOM may help protect neurons from oxidative stress, with potential implications for neurodegenerative diseases.
• HTR2C: HTR2C (5-Hydroxytryptamine Receptor 2C) is a serotonin receptor subtype involved in regulating mood, appetite, and behavior. It plays a key role in central nervous system (CNS) functions and is a target for some psychiatric medications. Variations or dysfunctions in HTR2C have been associated with mental health conditions like depression, anxiety, and schizophrenia, as well as metabolic disorders.
• ZNF804A: ZNF804A (Zinc Finger Protein 804A): ZNF804A is a zinc finger protein implicated in psychiatric disorders, especially schizophrenia and bipolar disorder. It is believed to play a role in brain development and synaptic plasticity. Variations in ZNF804A have been linked to changes in brain structure and function, making it important in neuropsychiatric research and the development of targeted therapi
• WDFY2: WDFY2 (WD Repeat and FYVE Domain Containing 2): WDFY2 is a protein involved in endosomal sorting and trafficking. It contains WD repeats and an FYVE domain, indicating a role in vesicle-mediated transport and membrane-related signaling pathways. The specific functions of WDFY2 in cellular processes and its impact on human health and disease are still being explored.
• APEH: APEH (Acylaminoacyl-Peptide Hydrolase): APEH is an enzyme that plays a key role in protein turnover by degrading acetylated peptides. It is involved in processing damaged or misfolded proteins, helping to maintain protein homeostasis. Dysfunctions in APEH can impact neurodegenerative processes and the body’s response to oxidative stress.
• ZFP57: ZFP57 (ZFP57 Zinc Finger Protein): ZFP57 is a KRAB-zinc finger protein that plays a key role in regulating genomic imprinting and DNA methylation. It is essential for maintaining the epigenetic stability of imprinted genes during early embryonic development. Mutations in ZFP57 are associated with transient neonatal diabetes and other imprinting disorders, highlighting its importance in epigenetic
• TMEM106B: TMEM106B (Transmembrane Protein 106B): TMEM106B is a gene that encodes a protein involved in lysosomal function and neuronal health. Variants in TMEM106B have been linked to neurodegenerative diseases, including frontotemporal lobar degeneration. Its role in maintaining neuronal function and lysosomal homeostasis makes it important for studying mechanisms behind neurodegeneration.
• NSG2: NSG2 (Neuron Specific Gene Family Member 2): NSG2 is a protein primarily expressed in the brain. It may play a role in neuronal development and function. While its specific functions in neural processes are not fully understood, NSG2 is believed to contribute to synaptic plasticity and neuronal signaling, which can impact cognitive and sensory functions.
• TNR: TNR (Tenascin R): TNR is a gene that encodes an extracellular matrix protein predominantly found in the central nervous system. It is involved in neural development, including synaptic plasticity and neuronal differentiation. TNR plays a role in forming neural networks and may influence neurodevelopmental and neurodegenerative processes.
• ENOX1: ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1) is a protein that facilitates electron transfer across the cell membrane, contributing to cellular redox balance. It is linked to the regulation of cell growth and the aging process, though its exact role in human physiology and disease remains not fully defined.
• BORCS7: BORCS7 (BLOC-1 Related Complex Subunit 7): BORCS7 is a component of the BLOC-1 (Biogenesis of Lysosome-related Organelles Complex-1). It plays a key role in the formation of lysosome-related organelles, such as melanosomes in melanocytes. Dysfunction in BORCS7 may affect pigmentation and neurological functions.
• ADH1C: ADH1C (Alcohol Dehydrogenase 1C) is a gene that encodes an enzyme involved in the metabolism of alcohol, specifically in converting ethanol to acetaldehyde in the liver. Variations in ADH1C can affect how individuals process alcohol and have been associated with differences in alcohol sensitivity, dependence risk, and related health outcomes.
• SPG7: SPG7 (Spastic Paraplegia 7, Paraplegin): SPG7 is a mitochondrial protein involved in the maintenance and function of mitochondria, especially in ATPase assembly. It plays a key role in neural and mitochondrial health. Mutations in SPG7 are a common cause of hereditary spastic paraplegia, a neurodegenerative disorder marked by progressive stiffness and weakness in the lower limbs.
• TBX20: TBX20 (T-Box 20): TBX20 is a gene that encodes a transcription factor essential for heart development and function. It plays a key role in cardiac cell differentiation and heart morphogenesis. Mutations in TBX20 are linked to congenital heart defects and cardiomyopathies.
• AZIN2: AZIN2 (Antizyme Inhibitor 2): AZIN2 is a protein that regulates the activity of ornithine decarboxylase, a key enzyme involved in polyamine biosynthesis. It functions by inhibiting antizyme, which normally downregulates ornithine decarboxylase. Polyamines are essential for cell growth and differentiation, and abnormalities in their metabolism—potentially influenced by AZIN2—have been linked to can
• DUSP15: DUSP15 (Dual Specificity Phosphatase 15) is a gene that encodes a phosphatase involved in regulating cell signaling by dephosphorylating specific target proteins. It plays a role in pathways related to cell growth and differentiation. While its precise functions are still being explored, DUSP15 may contribute to key cellular responses and signaling mechanisms.
• METTL11B: METTL11B (Methyltransferase-Like Protein 11B): METTL11B is a gene that encodes a protein with a methyltransferase-like domain. Although its exact functions are not yet fully understood, this domain suggests a possible role in epigenetic regulation, RNA modification, or protein methylation. Current research is focused on clarifying its role in cellular processes and its potential impact on health a
• CNTLN: CNTLN (Centlein): CNTLN is a protein involved in centrosome function, essential for proper cell division. It plays a key role in maintaining centrosome integrity and spindle assembly during mitosis. Dysfunction of CNTLN can lead to chromosomal instability, a characteristic of cancer cells, making it important in the study of tumor development and progression.
• HUNK: HUNK (Hormonally Up-Regulated Neu-Associated Kinase): HUNK is a gene that encodes a protein kinase regulated by hormonal signals. It has been linked to breast cancer, where overexpression may promote tumor growth and metastasis. By participating in intracellular signaling pathways influenced by hormones such as estrogen, HUNK plays a significant role in cancer biology and is being explored as a po
• DNAJB4: DNAJB4 (DnaJ Heat Shock Protein Family (Hsp40) Member B4) is a co-chaperone protein that supports the proper folding, degradation, and assembly of other proteins in the cell. It plays a key role in managing cellular stress responses, especially during heat shock, helping to maintain cellular balance and protect cells from damage caused by stress.
• POU5F2: POU5F2 (POU Class 5 Homeobox 2): POU5F2 is a transcription factor that belongs to the POU family, a group of proteins known for their roles in developmental processes and cell type–specific gene expression. While the specific functions of POU5F2 are not fully characterized, it may play a role in regulating gene expression in certain developmental or cellular contexts.
• CHRNB3: CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit) is a protein that forms part of the nicotinic acetylcholine receptor, which plays a key role in cholinergic neurotransmission. Variations in the CHRNB3 gene have been linked to nicotine dependence and related behavioral traits, suggesting its involvement in the brain’s addiction pathways and neural circuitry regulation.
• PTPN7: PTPN7 (Protein Tyrosine Phosphatase, Non-Receptor Type 7): PTPN7 is an enzyme involved in cell signaling, particularly within the immune system. It plays a key role in regulating T-cell activation and differentiation, thereby influencing immune responses. Dysregulation of PTPN7 can contribute to immune-related disorders and may have implications in autoimmune diseases and cancer due to its effects
• MRPS9: MRPS9 (Mitochondrial Ribosomal Protein S9): MRPS9 is a component of the mitochondrial ribosome, essential for the synthesis of proteins within mitochondria. It plays a vital role in producing proteins required for mitochondrial function and energy generation. Impairments in MRPS9 can reduce mitochondrial efficiency and may be associated with mitochondrial disorders, influencing overall cellular en
• LAMP3: LAMP3 (Lysosomal Associated Membrane Protein 3): LAMP3 is a protein involved in lysosomal function and cell signaling. It plays a key role in the immune response, particularly in antigen presentation. Elevated levels of LAMP3 have been observed in various types of cancers, indicating a potential role in tumor progression and metastasis.
• IRX2: IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor belonging to the Iroquois homeobox gene family. It plays a key role in embryonic development by regulating the patterning and formation of tissues such as the heart and nervous system. Dysregulation of IRX2 has been linked to developmental disorders and may also contribute to cancer.
• OTOP1: OTOP1 (Otopetrin 1): OTOP1 is a gene involved in the function of the vestibular system and essential for maintaining body balance and spatial orientation. It plays a key role in the formation of otoconia, tiny calcium carbonate crystals in the inner ear that are critical for sensing gravity and linear acceleration.
• PCDH7: PCDH7 (Protocadherin 7): PCDH7 is a gene that encodes a protein from the cadherin superfamily, involved in cell adhesion and neuronal connectivity. It plays a role in nervous system development and the maintenance of synaptic functions. Variations in PCDH7 have been linked to neurodevelopmental and psychiatric conditions, highlighting its importance in brain development and function.
• RABGAP1L: RABGAP1L (RAB GTPase Activating Protein 1-Like): RABGAP1L is a gene that encodes a protein involved in intracellular membrane trafficking by regulating RAB GTPases. It plays a key role in vesicle transport and overall cellular logistics. Dysregulation of RABGAP1L may disrupt cellular transport mechanisms and has been studied in relation to neurological disorders, where proper membrane trafficking
• UPB1: UPB1 (Beta-Ureidopropionase 1): UPB1 is an enzyme involved in the breakdown of pyrimidines, which are building blocks of nucleotides in the body. Proper UPB1 function is essential for nucleotide metabolism, and deficiencies can cause beta-ureidopropionase deficiency, a rare condition linked to neurological symptoms and developmental delays.
• ZNF704: ZNF704 (Zinc Finger Protein 704): ZNF704 is a member of the zinc finger protein family, characterized by their DNA-binding motifs and involvement in gene regulation. While its specific functions are not fully understood, ZNF704, like other zinc finger proteins, is likely involved in transcriptional regulation, impacting various cellular processes. It may play a role in development and disease mech
• SLC44A5: SLC44A5 (Solute Carrier Family 44 Member 5) is a gene that encodes a membrane transport protein belonging to the solute carrier family. Although its specific functions and substrates are not fully defined, SLC44A5 is thought to contribute to essential cellular transport processes involved in maintaining homeostasis and normal cell function.
• UBXN2A: UBXN2A (UBX Domain Protein 2A): UBXN2A is involved in the ubiquitin-proteasome system, which regulates protein degradation and quality control in cells. It may play a role in responding to cellular stress and regulating protein turnover, processes that are essential for maintaining cellular health and preventing disease.
• EXOC1L: EXOC1L (Exocyst Complex Component 1 Like): EXOC1L is a lesser-known part of the exocyst complex, a cellular system responsible for vesicle trafficking and exocytosis. It may contribute to the precise delivery of vesicles to the plasma membrane, influencing cell signaling, membrane growth, and secretion.
• EFNA5: EFNA5 (Ephrin A5): EFNA5 is a member of the ephrin family that functions as a ligand for Eph receptors. These interactions play key roles in developmental processes such as axon guidance, angiogenesis, and tissue patterning. Dysregulation of EFNA5 signaling can lead to abnormal development and has been linked to cancer progression.
• BLOC1S2: BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2) is a protein component of a complex that supports the formation of lysosome-related organelles, including melanosomes and platelet dense granules. Proper function of BLOC1S2 is essential for pigmentation processes and platelet function, while defects can lead to disorders affecting skin color and blood clotting.
• CENPW: CENPW (Centromere Protein W): CENPW is a gene involved in chromosome segregation during cell division, playing a key role in the formation and function of the centromere. It is essential for accurate cell division, and dysfunction can contribute to chromosomal instability, a common feature in many cancers.
• CDH6: CDH6 (Cadherin 6): CDH6 is a member of the cadherin family, which mediates cell-cell adhesion in various tissues. It plays an important role in kidney and neural development and may be involved in cancer metastasis, reflecting cadherins’ key function in maintaining tissue integrity and structure.
• MYRIP: MYRIP (Myosin VIIA and Rab Interacting Protein): MYRIP is a gene that encodes a protein involved in the transport and positioning of melanosomes in pigment cells and synaptic vesicles in neurons. It connects actin-based myosin VIIA to Rab proteins, supporting vesicle trafficking essential for pigmentation and synaptic communication.
• CCDC138: CCDC138 (Coiled-Coil Domain Containing 138): CCDC138 is a protein that is less well characterized but is potentially involved in cellular structure due to its coiled-coil domain. These domains often play a role in protein-protein interactions and cytoskeletal organization. Further research is needed to clarify its specific functions and its relevance to health and disease.
• ACTL7B: ACTL7B (Actin-Like 7B) is a member of the actin family, a group of proteins that form key parts of the cell’s cytoskeleton. Actins play important roles in maintaining cell shape, enabling movement, and supporting cell division. While the exact function of ACTL7B is not yet fully understood, it is believed to contribute to cell structure and activity, especially in reproductive cells.
• XXYLT1: XXYLT1 (Xyloside Xylosyltransferase 1) is a gene that encodes an enzyme responsible for modifying proteins by adding xylose sugars to proteoglycans. This modification is essential for building glycosaminoglycan chains, which support cell signaling, adhesion, and movement within the extracellular matrix. Changes in XXYLT1 can affect these processes and have been linked to developmental disorders.
• ZNF503: ZNF503 (Zinc Finger Protein 503): ZNF503 is a zinc finger protein involved in key developmental processes, especially limb and neuronal development. It functions as a transcriptional regulator and plays a role in controlling cell differentiation and growth. Dysregulation of ZNF503 may impact developmental pathways and is associated with potential roles in developmental disorders and cancer.
• CHRNA4: CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit) is a gene that encodes a subunit of the nicotinic acetylcholine receptor, which plays a key role in neurotransmission within the nervous system. This receptor is important for modulating neuronal excitability and synaptic communication. Mutations in CHRNA4 have been associated with certain forms of epilepsy and other neurological disorders, h
• PALM: PALM (Paralemmin): PALM is a protein involved in neuronal plasticity, membrane trafficking, and cytoskeletal dynamics. It plays a key role in the formation and maintenance of dendritic spines, which are essential for effective synaptic signaling in neurons.
• JAG1: JAG1 (Jagged 1): JAG1 is a key ligand in the Notch signaling pathway, involved in regulating cell fate and tissue development. Mutations in JAG1 can cause Alagille syndrome, a disorder affecting the liver, heart, and other organs. Through its role in Notch signaling, JAG1 also contributes to processes such as vascular development, blood cell formation, and cancer progression.
• VWC2L: VWC2L (von Willebrand Factor C Domain Containing Protein 2 Like):The von Willebrand factor C domain-containing protein 2-like (VWC2L) is a lesser-known protein characterized by the presence of a von Willebrand factor C domain — a structural feature commonly linked to extracellular matrix interactions and cell adhesion. It is thought to contribute to tissue development and structural integrity, tho
• CSDC2: CSDC2 (Cold Shock Domain Containing C2): CSDC2 is a protein involved in RNA binding and regulation of gene expression. It is believed to play a role in cellular responses to environmental stresses, especially temperature changes. While its precise functions in human health and disease are still under investigation, ongoing research aims to clarify its roles.
• FBXO8: FBXO8 (F-Box Protein 8): FBXO8 is a member of the F-box protein family, which plays a key role in the ubiquitin-proteasome system — the body’s way of regulating protein degradation and turnover. FBXO8 functions by helping to identify specific proteins for breakdown, thereby influencing important cellular activities like the cell cycle, signal transduction, and immune response. While its exact targ
• CCDC171: CCDC171 (Coiled-Coil Domain Containing 171): CCDC171 is a gene characterized by the presence of a coiled-coil domain, which suggests a role in protein-protein interactions. While its specific function is not fully understood, genes with similar domains are commonly involved in cellular processes such as vesicle transport, cell division, and signal transduction.
• ADGRB1: ADGRB1 (Adhesion G Protein-Coupled Receptor B1) is a protein that belongs to the adhesion G protein-coupled receptor family. Also known as BAI1, it plays important roles in processes such as clearing apoptotic cells (phagocytosis) and supporting synaptic development in the brain.
• GSTM3: GSTM3 (Glutathione S-Transferase Mu 3) is a gene that encodes an enzyme from the glutathione S-transferase family, which is involved in detoxifying harmful compounds. It plays a key role in metabolizing carcinogens, drugs, and byproducts of oxidative stress. Variations in GSTM3 may influence individual susceptibility to cancer, neurodegenerative diseases, and other conditions related to detoxifica
• ADAMTS16: ADAMTS16 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif, 16): ADAMTS16 is an enzyme involved in the cleavage of extracellular matrix components. It plays a role in tissue remodeling and development. Dysregulation of ADAMTS16 has been linked to conditions such as kidney and cardiovascular diseases, and it may also have implications for fertility.
• POM121: POM121 (POM121 Membrane Glycoprotein): POM121 is a component of the nuclear pore complex, responsible for regulating the transport of molecules between the nucleus and cytoplasm. It contributes to nuclear envelope formation and supports cell cycle progression. Disruptions in POM121 function can affect nuclear–cytoplasmic transport and compromise cellular homeostasis.
• RASGEF1B: RASGEF1B (RAS Guanine Nucleotide Exchange Factor 1B): RASGEF1B is a gene that encodes a guanine nucleotide exchange factor responsible for activating Ras proteins, which transmit signals within cells. It is believed to play a role in neural development and function. RASGEF1B may influence cellular processes such as growth and differentiation, and its dysregulation could be involved in developmenta
• UST: UST (Uronyl 2-Sulfotransferase) is an enzyme involved in the sulfation of proteoglycans, key components of the extracellular matrix. It plays an important role in biological processes such as cell signaling and tissue repair. Dysregulation of UST activity can affect connective tissue function and may be linked to disorders involving the extracellular matrix.
• SLC22A23: SLC22A23 (Solute Carrier Family 22 Member 23) is a gene that encodes a transporter protein involved in moving organic ions and small molecules across cell membranes. Although its exact function and substrates are not fully defined, SLC22A23 is believed to contribute to the transport of organic compounds in different tissues, potentially influencing drug metabolism and other physiological processes
• OXTR: OXTR (Oxytocin Receptor): OXTR is a gene that encodes the receptor for oxytocin, a hormone involved in social bonding, sexual reproduction, childbirth, and maternal behaviors. It plays a key role in regulating social interactions and trust, and dysregulation may contribute to conditions such as autism and social anxiety disorders.
• PTGER3: PTGER3 (Prostaglandin E Receptor 3): PTGER3 is a gene that encodes one of the four receptors for prostaglandin E2, a lipid compound involved in various physiological processes such as inflammation, gastric mucosal protection, and smooth muscle function. This receptor plays a key role in mediating cellular responses to prostaglandin E2, affecting pain perception, fever response, and may contribute
• SOX6: SOX6 (SRY-Box Transcription Factor 6): SOX6 is a protein that plays a key role in the development and differentiation of multiple tissues, including cartilage, muscle, and the central nervous system. It is essential for chondrocyte differentiation and skeletal development, as well as regulating neuronal development. Dysregulation of SOX6 has been linked to skeletal malformations and may impact cog
• OPTN: OPTN (Optineurin): OPTN is a protein involved in key cellular processes, including membrane trafficking, autophagy, and NF-κB signaling. Mutations in this gene are associated with glaucoma and amyotrophic lateral sclerosis (ALS). Its functions in autophagy and neuroinflammation make it an important focus in research on neurodegenerative diseases and neuronal cell death.
• GPM6A: GPM6A (Glycoprotein M6A): GPM6A is a gene that encodes a glycoprotein mainly expressed in the nervous system. It plays a critical role in neurite outgrowth and the formation of neuronal networks, as well as in the development and maintenance of the myelin sheath, which is essential for efficient nerve signal transmission. GPM6A is linked to neurological disorders such as schizophrenia and bipolar
• LMCD1: LMCD1 (LIM and Cysteine-Rich Domains 1): LMCD1 is a gene that encodes a protein involved in cardiac development and function. It plays a key role in regulating gene expression in heart muscle cells, influencing the development, structure, and maintenance of cardiac tissue. Alterations or dysfunctions in LMCD1 may impact heart performance and are associated with cardiovascular diseases, highlightin
• CNTN2: CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a key role in the development and function of the nervous system. It is involved in the formation of neural circuits and synaptic connections. Variations or mutations in CNTN2 have been associated with neurodevelopmental disorders and may impact neurological processes such as learning and memory.
• DNMT3B: DNMT3B (DNA Methyltransferase 3 Beta) is a gene that encodes an enzyme involved in DNA methylation — an important epigenetic mechanism that regulates gene expression. DNMT3B plays a critical role in development and has been linked to conditions such as ICF syndrome and various types of cancer.
• POLR1F: POLR1F (RNA Polymerase I Subunit F): POLR1F is a key component of RNA polymerase I, responsible for transcribing ribosomal RNA (rRNA), an essential part of ribosomes. Ribosomes drive protein synthesis in cells, making POLR1F vital for cellular growth and function. Mutations or dysfunctions in POLR1F can disrupt ribosome production and function, potentially leading to diseases linked to impaired pr
• NANOS1: NANOS1 (Nanos C2HC-Type Zinc Finger 1): NANOS1 is a protein that functions as a post-transcriptional regulator, playing a key role in germ cell development. It is essential for maintaining germ cell viability and has been linked to studies on infertility and germ cell tumors.
• DRD1: DRD1 (Dopamine Receptor D1): DRD1 is a gene that encodes a major dopamine receptor in the brain, playing a central role in the dopaminergic system. It is involved in regulating reward, motivation, and motor control. Dysregulation of DRD1 has been linked to psychiatric disorders, including schizophrenia, as well as addictive behaviors.
• FHIT: FHIT (Fragile Histidine Triad Diadenosine Triphosphatase) is a tumor suppressor gene involved in purine metabolism. It plays a key role in maintaining genomic stability, and its loss or alteration has been associated with various cancers, highlighting its importance in preventing tumor development.
• ADAMTSL1: ADAMTSL1 (ADAMTS Like 1) is a gene belonging to the ADAMTS family, known for roles in extracellular matrix organization and cell-matrix interactions. Although its precise function is still being explored, its similarity to metalloproteinases suggests involvement in tissue remodeling, development, and cell signaling. Alterations in ADAMTSL1 may affect processes such as cell adhesion, migration, and
• NR2F2: NR2F2 (Nuclear Receptor Subfamily 2 Group F Member 2): NR2F2 is a transcription factor, also known as COUP-TFII, that plays a key role in the development and function of multiple organs, including the heart and vascular system. It regulates genes involved in angiogenesis (formation of new blood vessels) and metabolic processes. Abnormal NR2F2 activity is associated with developmental disorders and
• ITIH1: ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is a protein that reflects the body’s mechanisms for extracellular matrix stabilization and inflammation regulation. It plays an important role in tissue remodeling and repair, and dysregulation of ITIH1 has been associated with various inflammatory conditions and may contribute to cancer development.
• STAC: STAC (SH3 and Cysteine-Rich Domain): STAC is a protein — specifically STAC3 in humans — that plays a key role in skeletal muscle contraction. It is essential for excitation–contraction coupling, the process that links electrical signals to muscle movement. Mutations in the STAC3 gene can lead to Native American myopathy, a rare congenital condition marked by muscle weakness, skeletal abnormalities
• ASTN2: ASTN2 (Astrotactin 2): ASTN2 is a gene that encodes a neural adhesion protein involved in neuronal migration during brain development. It plays a key role in the formation of neural networks and overall brain structure. Genetic variations in ASTN2 have been associated with neurological disorders such as autism spectrum disorder and attention deficit hyperactivity disorder (ADHD).
• GSK3B: GSK3B (Glycogen Synthase Kinase 3 Beta): GSK3B is a kinase involved in various cellular processes, including glycogen metabolism, cell cycle regulation, and neuronal function. It is linked to the development of diseases such as Alzheimer’s and serves as a target for some psychiatric medications.
• TARS1: TARS1 (Threonyl-TRNA Synthetase 1): TARS1 is an enzyme involved in the synthesis of threonyl-tRNA, a crucial step in protein synthesis. It plays an essential role in translating genetic information into functional proteins. Mutations in TARS1 have been linked to neurological disorders, highlighting its importance in proper protein production.
• ACYP2: ACYP2 (Acylphosphatase 2) is a gene that encodes an enzyme involved in hydrolyzing acylphosphates, contributing to cellular energy metabolism. It plays a role in muscle function, potentially affecting muscle efficiency and endurance. Variations in ACYP2 have been associated with aging and age-related conditions, highlighting its potential link to energy regulation and lifespan.
• SMARCA2: SMARCA2 (SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 2): SMARCA2 is a gene that encodes a core component of the SWI/SNF chromatin remodeling complex. It plays a key role in regulating gene expression by modifying chromatin structure. Mutations in SMARCA2 are linked to disorders such as Nicolaides-Baraitser syndrome, which involves intellectual di
• NRSN1: NRSN1 (Neurensin 1): NRSN1 is a neuronal protein that may play a role in synaptic function and plasticity. While its precise function in the brain is not fully understood, it is believed to contribute to the regulation of neurotransmitter release and neuronal signaling, with potential implications for learning and memory.
• TUFM: TUFM (Tu Translation Elongation Factor, Mitochondrial): TUFM is a protein that plays a key role in mitochondrial protein synthesis, supporting the translation process within mitochondria. It is essential for proper mitochondrial function and energy production, with potential implications in mitochondrial disorders and conditions associated with impaired energy metabolism.
• ADARB1: ADARB1 (Adenosine Deaminase RNA-Specific B1) is a gene that encodes an enzyme involved in RNA editing — a process that modifies RNA molecules after transcription. This editing can affect RNA stability, function, and how genes are expressed. ADARB1 plays an important role in brain function and has been linked to the regulation of neural activity and neurological disorders.
• HLCS: HLCS (Holocarboxylase Synthetase): HLCS is an enzyme essential for the proper functioning of carboxylase enzymes, which play key roles in protein, carbohydrate, and lipid metabolism. Mutations in HLCS can cause holocarboxylase synthetase deficiency, a rare metabolic disorder characterized by multiple carboxylase deficiencies, leading to issues with skin, hair, immune function, and developmental de
• PLEKHG1: PLEKHG1 (Pleckstrin Homology and RhoGEF Domain Containing G1): PLEKHG1 is a gene that encodes a protein containing pleckstrin homology and RhoGEF domains. These domains suggest the protein plays a role in signaling pathways involved in cell morphology, cytoskeletal organization, and cellular migration. While its precise functions are still under study, PLEKHG1 is believed to contribute to the regu
• HNRNPA1P48: HNRNPA1P48 (Heterogeneous Nuclear Ribonucleoprotein A1 Pseudogene 48): HNRNPA1P48 is a pseudogene related to the HNRNPA1 gene, which encodes a protein involved in mRNA processing and transport. While HNRNPA1P48 may not produce a functional protein, it could have regulatory roles in gene expression, such as generating non-coding RNAs or acting as decoys for regulatory molecules. Its precise functio
• MEF2C: MEF2C (Myocyte Enhancer Factor 2C): MEF2C is a transcription factor that plays a vital role in muscle development and neuronal differentiation. It is essential for proper brain development and function, with mutations linked to severe intellectual disability, autistic features, and epilepsy. In cardiac muscle, MEF2C is critical for heart formation and development, where dysfunctions can result in
• NR4A2: NR4A2 (Nuclear Receptor Subfamily 4 Group A Member 2): NR4A2 is a transcription factor, also known as Nurr1, that plays a critical role in the development and maintenance of dopaminergic neurons in the brain. It is involved in neuroprotection and has been studied for its relevance to Parkinson’s disease and other neurodegenerative disorders.
• ANKK1: ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1): ANKK1 is a gene associated with signal transduction and may play a role in regulating dopamine receptors, which are essential for brain function. Variants near ANKK1 have been linked to neuropsychiatric disorders and addiction, potentially due to their impact on dopamine signaling.
• C8ORF37: C8ORF37 (Chromosome 8 Open Reading Frame 37): C8ORF37 is a gene linked to retinal dystrophies and Bardet-Biedl syndrome — a condition marked by vision loss, obesity, and other symptoms. It plays a key role in maintaining photoreceptor cells and supporting cilia-related processes. Mutations in this gene can cause retinal degeneration and disrupt normal ciliary function.
• NCAM1: NCAM1 (Neural Cell Adhesion Molecule 1): NCAM1 is a protein that plays a key role in neural development, particularly in cell-cell adhesion, neurite outgrowth, and synaptic plasticity. It is essential for learning and memory and has been studied in relation to neuropsychiatric disorders such as schizophrenia and autism.
• MRO: MRO (Maestro Heat-Like Repeat Family Member): MRO is a protein containing a maestro heat-like repeat, indicating a potential role in the heat shock response or cellular stress adaptation. Its exact functions in human physiology and possible links to disease remain unclear, making it an active area of ongoing research.
• CHODL: CHODL (Chondrolectin) is a gene that encodes a protein potentially involved in cell adhesion and chondrocyte differentiation. While its precise function is not yet fully understood, evidence suggests it may play a role in cartilage formation and musculoskeletal development.

How to prepare

**30 minutes before sample collection** Do not **eat, drink, smoke or chew gum.** Follow the included instructions carefully before collecting your saliva sample.

Frequently asked questions

Are the reports available in different languages?

The DNA reports are available in English only.

How do I perform the DNA Brain Health Test?

The process involves a simple saliva collection at home. You should avoid eating, drinking, or smoking for at least 30 minutes before taking the sample. Once completed, the kit is sent back to our lab in the included prepaid return packaging.

How long does it take to receive my results?

Due to the comprehensive nature of analyzing 256 specific genes, result turnaround time is typically between 6 to 8 weeks. You will receive a detailed digital report in English once the analysis is complete.

Who should take this DNA Brain Health Test?

This test is ideal for individuals looking to understand the biological roots of their mood, stress levels, or cognitive performance. It is particularly useful for those with a family history of mental health challenges or individuals who want to personalize their wellness and lifestyle strategies based on genetic data.

Can I receive the raw data from my test?

No. We provide your results in a comprehensive report with the relevant values and interpretations. We do not provide the raw laboratory data.

Customer reviews

4.6/5 (5)

• 5/5 — Fascinating results! I finally understand why caffeine affects my sleep so much compared to others.
• 5/5 — Easy saliva collection and professional report.
• 4/5 — Useful for personalized wellness.
• 4/5 — The 8-week wait was a bit long, but the report itself is very detailed and objective. I'm satisfied with the information provided.
• 5/5 — The kit was simple to use and the instructions were very clear.