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GetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.

<p>GetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.</p>

DNA Brain Health Test

PFKP (Phosphofructokinase, Platelet): PFKP is a key enzyme in the glycolytic pathway, controlling the rate of glucose metabolism. It catalyzes the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Dysregulation of PFKP can affect energy metabolism in cells and has been studied in the context of cancer, where altered glucose metabolism is a common feature....

PFKP

CNDP2 (Carnosine Dipeptidase 2): CNDP2, closely related to CNDP1, is another enzyme that participates in the metabolism of carnosine and anserine. Its function and significance are less understood than CNDP1, but it is believed to play a role in muscle and brain health. Research into CNDP2 may uncover new aspects of metabolic health and disease....



CNDP2

CNTN5 (Contactin 5): CNTN5 is part of the contactin family, playing a role in the development of the nervous system, particularly in the formation of neural connections. Mutations in CNTN5 have been linked to neurodevelopmental disorders, including autism spectrum disorders and intellectual disabilities, highlighting its importance in neuronal development and function....



CNTN5

FCGR3A (Fc Fragment Of IgG Receptor IIIa): FCGR3A, also known as CD16a, is a receptor for the Fc portion of immunoglobulin G (IgG) and plays a key role in immune response by mediating antibody-dependent cellular cytotoxicity (ADCC). It is expressed on natural killer (NK) cells, macrophages, and some T cells, facilitating the clearance of pathogens and antibody-coated cells. Variations in FCGR3A have been associated with susceptibility to autoimmune diseases and response to immunotherapy in cancer treatment....

FCGR3A

PEMT (Phosphatidylethanolamine N-Methyltransferase): PEMT catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine in the liver, an essential process for maintaining cell membrane integrity and VLDL secretion. PEMT's activity influences liver health, fat metabolism, and choline requirements. Dysregulation of PEMT is linked to liver and cardiovascular diseases, highlighting its significance in metabolic health....

PEMT

POLR1F (RNA Polymerase I Subunit F): POLR1F is an integral component of RNA polymerase I, responsible for the transcription of ribosomal RNA (rRNA), a critical component of ribosomes. Ribosomes are essential for protein synthesis in cells, and thus, POLR1F plays a vital role in cellular growth and function. Dysfunctions or mutations in POLR1F can lead to issues in ribosome biogenesis and function, potentially resulting in diseases associated with impaired protein synthesis. The study of POLR1F and its associated pathways is important for understanding various cellular processes and conditions related to ribosomal function and protein synthesis....

POLR1F

SGMS1 (Sphingomyelin Synthase 1): SGMS1 is involved in sphingolipid metabolism, which is crucial for cell membrane integrity and signaling. It plays a role in the conversion of ceramide to sphingomyelin, important in cell signaling and apoptosis. Dysregulation of SGMS1 has implications in metabolic and neurodegenerative diseases....



SGMS1

IL18R1 (Interleukin 18 Receptor 1): IL18R1, also known as the interleukin 18 receptor 1, is a protein that plays a significant role in the immune response by serving as a receptor for interleukin 18 (IL-18), a cytokine involved in inflammation and immune defense. IL18R1's interaction with IL-18 is crucial for the activation of natural killer cells and certain types of T-cells, which are integral to the body's response to infection and injury. Alterations in the IL18R1 gene can influence susceptibility to various inflammatory and autoimmune diseases, highlighting its importance in regulating immune and inflammatory responses....

IL18R1

FAP (Fibroblast Activation Protein Alpha): FAP encodes an enzyme known as fibroblast activation protein alpha, which is expressed by activated fibroblasts in the tumor microenvironment. It plays a role in tissue remodeling and is a potential therapeutic target in cancer treatment....

COL5A1 (Collagen Type V Alpha 1 Chain): COL5A1 is involved in the production of type V collagen, important for the structure and function of connective tissues. Mutations in this gene can lead to Ehlers-Danlos syndrome, characterized by hypermobility, skin hyperextensibility, and tissue fragility....



COL5A1

CRHR2 (Corticotropin-Releasing Hormone Receptor 2): CRHR2 is a receptor for corticotropin-releasing hormone, involved in stress response, metabolic processes, and cardiovascular function. It plays a role in regulating the body's response to stress and has been studied in relation to anxiety and heart diseases....



CRHR2

BMP6 (Bone Morphogenetic Protein 6): BMP6 is part of the bone morphogenetic protein family, which is crucial in the development and repair of bone and cartilage. It is involved in various cellular processes including cell growth, apoptosis, and differentiation. BMP6 has been studied in the context of osteogenesis and is also implicated in cancer progression....



BMP6

KANSL1, also known as KAT8 Regulatory NSL Complex Subunit 1, is a protein that plays a crucial role in chromatin regulation and gene expression. It is a component of the Non-Specific Lethal (NSL) histone acetyltransferase (HAT) complex, which is responsible for acetylating histone proteins, specifically histone H4 at lysine 16 (H4K16ac), a modification associated with transcriptional activation and chromatin remodeling. One of the primary functions of KANSL1 within the NSL complex is its role in regulating gene expression by modifying chromatin structure. The NSL complex targets specific genomic loci and catalyzes the acetylation of histone proteins, leading to an open chromatin...

KANSL1

PCDH8 (Protocadherin 8): PCDH8 belongs to the protocadherin family, cell adhesion molecules critical for the formation and maintenance of neural networks. It plays a significant role in synaptic plasticity, essential for learning and memory. Dysregulation of PCDH8 has been associated with neurodevelopmental disorders and is being studied for its role in tumor suppression, given its importance in cell-cell communication and signaling in the nervous system....

PCDH8

PIP5KL1 (Phosphatidylinositol-4-Phosphate 5-Kinase-Like 1): PIP5KL1 encodes an enzyme involved in phosphoinositide metabolism. It catalyzes the conversion of phosphatidylinositol 4-phosphate (PI4P) to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), a key signaling molecule in various cellular processes, including membrane trafficking and cytoskeletal organization....




PIP5KL1

FARP2 (FERM, ARH/RhoGEF, And Pleckstrin Domain Protein 2): FARP2 is a signaling protein that influences neuronal development and synaptic plasticity by regulating dendritic spine formation and actin cytoskeleton remodeling. It acts as a guanine nucleotide exchange factor for small GTPases, mediating cell signaling pathways that affect neuronal connectivity and function. Alterations in FARP2 expression or function are associated with neurological disorders, highlighting its significance in brain development and synaptic regulation....

FARP2

ST18 (Suppression of Tumorigenicity 18): ST18 is a gene associated with tumor suppression and inflammation. It may play a role in regulating cell growth and immune responses. ST18's functions are linked to its potential role in preventing tumorigenesis....



ST18

COL27A1 (Collagen Type XXVII Alpha 1 Chain): COL27A1 encodes a member of the collagen family, proteins that are essential for the structural integrity and function of connective tissues. This type of collagen is particularly important in the development and maintenance of cartilage and the skeleton. Mutations in COL27A1 have been associated with disorders affecting skeletal development, highlighting its role in bone and cartilage health. Studies on COL27A1 aim to uncover its contributions to musculoskeletal diseases and potential targets for treatment....



COL27A1

CRIPT (Cysteine-Rich PDZ-Binding Protein): CRIPT is involved in synaptic assembly and function. It encodes a protein that binds to a specific PDZ domain, playing a role in the localization of certain proteins within cells, particularly in the nervous system. Its function is significant for synaptic stability and neuronal signaling....



CRIPT

UCN3, also known as Urocortin 3, is a peptide hormone belonging to the corticotropin-releasing factor (CRF) family. It is primarily expressed in the central nervous system, particularly in regions of the brain involved in stress response regulation, such as the hypothalamus, amygdala, and brainstem. One of the primary functions of UCN3 is its role in modulating the stress response and anxiety-related behaviors. Like other members of the CRF family, UCN3 acts as a neuromodulator, influencing the activity of neurons and circuits involved in the physiological and behavioral responses to stress. UCN3 binds to and activates specific receptors, including CRF receptor type...




UCN3

IL1RL1 (Interleukin 1 Receptor Like 1): Also known as ST2, IL1RL1 is a receptor for interleukin 33 (IL-33). It acts in the immune response by mediating the effects of IL-33, a cytokine involved in inflammation and allergic reactions. IL1RL1 is significant in the pathogenesis of asthma, atopic dermatitis, and other allergic diseases. Understanding its role in the IL-33 signaling pathway offers potential therapeutic targets for treating allergic and inflammatory conditions....

IL1RL1

COL13A1 (Collagen Type XIII Alpha 1 Chain): COL13A1 encodes a transmembrane collagen that contributes to the organization and function of connective tissues. It plays a role in cell adhesion, muscle tissue integrity, and the neuromuscular junction's stabilization. Mutations or dysregulation in COL13A1 can lead to muscle disorders and are being studied for their roles in connective tissue diseases and cancer metastasis....



COL13A1

BLMH (Bleomycin Hydrolase): BLMH is an enzyme crucial for metabolizing and detoxifying the chemotherapeutic drug bleomycin. Bleomycin is effective in treating cancer by causing DNA damage in cancer cells, but it can also lead to lung toxicity as a side effect. BLMH plays a pivotal role in breaking down bleomycin into harmless compounds, reducing the risk of lung toxicity. Understanding BLMH's function is vital for optimizing cancer treatment and managing its side effects, particularly in patients receiving bleomycin-based therapies. Researchers are actively exploring strategies to enhance the safety and effectiveness of cancer treatments involving bleomycin....



BLMH

PDSS1 (Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 1): PDSS1 is involved in the synthesis of coenzyme Q10, a key molecule in the mitochondrial electron transport chain. It plays a critical role in cellular energy production and antioxidant protection. Dysfunctions in PDSS1 can lead to coenzyme Q10 deficiency, which has implications in various neuromuscular and neurodegenerative diseases....




PDSS1

GPR158 (G Protein-Coupled Receptor 158): GPR158 is a member of the G protein-coupled receptor family and is involved in various physiological processes, including neuronal development and regulation of mood and behavior. It has been implicated in conditions such as depression and anxiety, highlighting its role in mental health....

GPR158

CLMP (CXADR Like Membrane Protein): CLMP is involved in cell adhesion and is important for the integrity of tight junctions in epithelial cells. It's crucial for gastrointestinal tract development, and mutations in CLMP have been associated with congenital short bowel syndrome, a severe developmental disorder....



CLMP

UPP1 (Uridine Phosphorylase 1): UPP1 is involved in the pyrimidine salvage pathway, converting uridine to uracil and ribose-1-phosphate. It plays a key role in nucleotide metabolism, impacting various cellular processes including DNA and RNA synthesis. Its function is particularly relevant in chemotherapy, as it affects the activation and effectiveness of certain anticancer drugs....

UPP1

GLIS3 (GLIS Family Zinc Finger 3): GLIS3 is a transcription factor that plays a significant role in the regulation of gene expression in various biological processes, including thyroid hormone signaling and pancreatic beta-cell development. Mutations in GLIS3 have been linked to a range of disorders, including congenital hypothyroidism and neonatal diabetes, underscoring its importance in endocrine function and development....

GLIS3

PIK3AP1 (Phosphoinositide-3-Kinase Adaptor Protein 1): PIK3AP1 plays a role in the PI3K signaling pathway, which is critical for many cellular processes including cell growth, proliferation, and survival. Its involvement in immune cell signaling makes it relevant in studies of immunity and inflammation, as well as in cancer biology....




PIK3AP1

FCER1G (Fc Epsilon Receptor I Gamma): FCER1G is an important component of the high affinity receptor for the Fc region of immunoglobulin E (IgE). It plays a critical role in allergic responses and is involved in the activation of mast cells and basophils. Alterations in this gene can influence the severity and susceptibility to allergic diseases and asthma....

FCER1G

GLO1 (Glyoxalase I): GLO1 encodes an enzyme called glyoxalase I, which is involved in the detoxification of methylglyoxal, a cytotoxic byproduct of metabolism. GLO1 plays a role in cellular protection against oxidative stress and has implications in diabetes and other diseases where glyoxalase activity is relevant....

GLO1

CLGN (Calmegin): CLGN is involved in sperm-egg fusion during fertilization. It functions in the endoplasmic reticulum of the testis and is essential for male fertility. Mutations in CLGN can lead to infertility due to its role in sperm development and function....



CLGN

GPR151 (G Protein-Coupled Receptor 151): GPR151 is a gene that encodes a G protein-coupled receptor (GPCR). GPCRs are involved in cell signaling and can respond to various signaling molecules. The specific function of GPR151 is still being investigated, but it may play a role in neural and metabolic processes....

GPR151

PDIA5 (Protein Disulfide Isomerase Family A, Member 5): PDIA5 is involved in the folding and maturation of proteins within the endoplasmic reticulum, playing a key role in ensuring proper protein conformation and function. It aids in the formation and rearrangement of disulfide bonds, crucial for protein stability. Dysregulation of PDIA5 can lead to protein misfolding diseases and has been implicated in the development of diabetes and neurodegenerative diseases, emphasizing its importance in protein quality control....

PDIA5

CRTC3 (CREB Regulated Transcription Coactivator 3): CRTC3 is a gene associated with transcriptional regulation. It encodes a coactivator protein that interacts with CREB (cAMP response element-binding protein) to modulate gene expression in response to various signaling pathways. CRTC3 is involved in processes related to cellular energy balance, metabolism, and glucose homeostasis....



CRTC3

SETBP1 (SET Binding Protein 1): SETBP1 is a protein that interacts with SET, a regulator of histone acetylation and chromatin remodeling. SETBP1 plays a role in gene regulation and has been associated with developmental disorders and leukemia....

SETBP1

PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1): PIEZO1 is a mechanically activated ion channel that plays a critical role in sensing mechanical stimuli like pressure and stretch in various tissues, including blood vessels and the lungs. Its function is crucial for vascular development, blood pressure regulation, and cell volume regulation. Mutations in PIEZO1 are linked to hereditary xerocytosis, a condition characterized by dehydrated red blood cells, and to other disorders involving mechanosensation....




PIEZO1

ST20 (Suppressor Of Tumorigenicity 20): ST20, also known as MINK1, is a member of the germinal center kinase (GCK) family and plays a role in various cellular processes, including apoptosis, cytoskeletal reorganization, and cell migration. It is involved in signaling pathways that regulate cell survival and proliferation. The function of ST20 in tumorigenesis and its potential as a tumor suppressor are areas of ongoing research, with implications for cancer biology and therapy....



ST20

CRYBB2 (Crystallin Beta-B2): CRYBB2 is a member of the crystallin family and is predominantly expressed in the lens of the eye. It contributes to the maintenance of lens transparency and refractive properties. CRYBB2 plays a crucial role in the structural integrity of the lens and is vital for proper vision....



CRYBB2

PHYHIPL (Phytanoyl-CoA 2-Hydroxylase Interacting Protein-Like): PHYHIPL is associated with the peroxisomal degradation pathway, specifically involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Its function is related to lipid metabolism and the maintenance of cellular lipid homeostasis. While the specific roles of PHYHIPL are still being elucidated, it may play a role in metabolic disorders and conditions associated with disrupted lipid metabolism....

PHYHIPL

KATNIP (Katanin Interacting Protein): KATNIP is a gene associated with interactions with the katanin protein complex. Katanin is involved in microtubule severing, a crucial process in cell division, motility, and intracellular transport. KATNIP may modulate the activity of katanin, influencing microtubule dynamics and cellular processes....

KATNIP

IKZF2 (IKAROS Family Zinc Finger 2): IKZF2, also known as Helios, is a transcription factor important for the development and differentiation of T cells. It plays a key role in maintaining the regulatory T cell lineage and function, crucial for immune tolerance and preventing autoimmunity. Dysregulation of IKZF2 has been associated with immune system disorders and is being explored for its potential in cancer immunotherapy, given its importance in immune regulation....

IKZF2

PHKB (Phosphorylase Kinase Beta): PHKB is part of the glycogenolysis pathway, essential for glycogen breakdown. It is a regulatory subunit of phosphorylase kinase, which activates glycogen phosphorylase, the enzyme responsible for glycogen degradation. Mutations in PHKB can lead to glycogen storage disease IX, affecting liver and muscle function....




PHKB

CLEC12A (C-Type Lectin Domain Family 12 Member A): CLEC12A encodes a protein that is a member of the C-type lectin-like receptor family, playing a role in the immune system. It is involved in cell signaling pathways that regulate immune responses, particularly in myeloid cells, and has been a focus in studies related to inflammation and leukemia....



CLEC12A

STAC (SH3 and Cysteine-Rich Domain): STAC, specifically STAC3 in humans, is a protein that plays a significant role in muscle contraction and function. It is involved in the excitation-contraction coupling of skeletal muscles. Mutations in the STAC3 gene are known to cause Native American myopathy, a rare congenital disorder characterized by muscle weakness, skeletal abnormalities, and susceptibility to malignant hyperthermia. The study of STAC3 is crucial for understanding muscle physiology and related disorders....



STAC

POU2F3 (POU Class 2 Homeobox 3): POU2F3 is a transcription factor primarily involved in the differentiation of epithelial cells, especially in the skin and sensory organs. It plays a critical role in the development of tuft cells, a type of chemosensory cell found in the lining of the respiratory and digestive tracts. POU2F3 is also implicated in the development of certain types of squamous cell carcinomas....

POU2F3

CSF3R (Colony Stimulating Factor 3 Receptor): CSF3R is the receptor for colony-stimulating factor 3 (CSF3), a cytokine that controls the production, differentiation, and function of granulocytes. The interaction of CSF3 with its receptor is crucial for the survival and activation of neutrophils, essential components of the innate immune response. Mutations or overexpression of CSF3R can lead to disorders of granulocyte function and proliferation, including chronic neutrophilic leukemia and severe congenital neutropenias, highlighting its role in hematopoiesis and immune defense....



CSF3R

KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3): KCND3 encodes a voltage-gated potassium channel protein that is primarily expressed in the heart and brain. These channels play a crucial role in regulating the electrical activity of cells, including cardiac and neuronal cells. Mutations in KCND3 have been associated with certain cardiac arrhythmias and neurodevelopmental disorders....

KCND3

IKZF1 (IKAROS Family Zinc Finger 1): IKZF1 encodes a zinc finger transcription factor crucial for immune cell development and differentiation, particularly in B cells. It is frequently mutated in B-cell acute lymphoblastic leukemia (B-ALL), highlighting its pivotal role in hematopoiesis and immune system function. IKZF1's interactions with various genes and its role in maintaining immune homeostasis make it a subject of intense investigation in immunology and oncology....

IKZF1

POU3F3 (POU Class 3 Homeobox 3): POU3F3 is a member of the POU family of transcription factors, known for their role in regulating gene expression in the development of the nervous system. It is crucial for the differentiation and maintenance of neural progenitor cells, influencing the development of various brain regions. Research has shown that mutations or dysregulation of POU3F3 can be associated with neurodevelopmental disorders and might contribute to the etiology of certain psychiatric conditions....

POU3F3

PDGFB (Platelet-Derived Growth Factor Subunit B): PDGFB is a gene that encodes a growth factor subunit involved in cell signaling and tissue repair. It is a component of the platelet-derived growth factor (PDGF) family, which plays a crucial role in cell proliferation and migration. PDGFB is implicated in processes like wound healing, tissue remodeling, and angiogenesis (formation of new blood vessels)....

PDGFB

KCNIP4, also known as Kv channel-interacting protein 4, belongs to the family of Kv channel-interacting proteins (KCNIPs), also known as Kv channel regulatory proteins (KCHIPs). These proteins are associated with voltage-gated potassium (Kv) channels and modulate their function. One of the primary functions of KCNIP4 is its role in regulating the properties of Kv channels. Kv channels are integral membrane proteins that play a crucial role in controlling the electrical activity of cells by regulating the flow of potassium ions across cell membranes. KCNIP4 interacts with Kv channels and modulates their gating kinetics, voltage dependence, and trafficking to the cell membrane,...

KCNIP4

GLP1R (Glucagon-Like Peptide 1 Receptor): GLP1R encodes the receptor for glucagon-like peptide 1 (GLP-1), a hormone that regulates insulin secretion and glucose metabolism. Activation of GLP1R by GLP-1 or GLP-1 analogs enhances insulin release, suppresses glucagon secretion, and promotes satiety, making it a key target for medications used to treat type 2 diabetes and obesity....

GLP1R

GNAQ (G Protein Subunit Alpha Q): GNAQ is a subunit of G proteins, which play a crucial role in transmitting signals from the cell surface to its interior. Mutations in GNAQ have been implicated in several types of tumors, including uveal melanoma, and in Sturge-Weber syndrome, a neurological and skin disorder....

GNAQ

INAVA (Innate Immune Signal Activator): INAVA is a gene associated with innate immune signaling. It is involved in the regulation of the NF-kappaB signaling pathway, which plays a crucial role in immune responses to pathogens and inflammation. INAVA's function contributes to the activation of immune cells and the production of inflammatory mediators....

INAVA

IGLV4-60 (Immunoglobulin Lambda Variable 4-60): IGLV4-60 is part of the immunoglobulin gene family and is involved in the adaptive immune response. It encodes a component of the variable region of lambda light chains in antibodies, playing a role in antigen recognition. The diversity of immunoglobulin genes like IGLV4-60 is crucial for the ability of the immune system to respond to a wide array of pathogens....

IGLV4-60

PPARA (Peroxisome Proliferator-Activated Receptor Alpha): PPARA is a key regulator of lipid metabolism, particularly in the liver. It is involved in the catabolism of fatty acids, and its activation can lead to increased fatty acid oxidation and decreased serum triglycerides. PPARA is also implicated in the regulation of inflammatory responses and is a target for drugs treating hyperlipidemias....




PPARA

INHBC (Inhibin Beta C Subunit): INHBC is a part of the activin-inhibin family, which regulates various functions including reproduction, cell growth, and differentiation. It is involved in the regulation of the follicle-stimulating hormone (FSH). Dysregulation of INHBC can have implications in reproductive health and certain cancers....

INHBC

TYR (Tyrosinase): TYR is an enzyme crucial in the melanin biosynthesis pathway, responsible for the initial steps of converting tyrosine into melanin pigments. Melanin is essential for coloration in the skin, hair, and eyes, and plays a protective role against UV radiation. Mutations in TYR are associated with albinism, a condition characterized by a deficiency or absence of melanin, leading to visual problems and increased skin cancer risk. TYR's function in pigmentation underscores its importance in protecting against UV-induced damage and in normal visual system development. ...




CHRM3 (Cholinergic Receptor Muscarinic 3): CHRM3 is a receptor for acetylcholine, involved in various physiological functions, including smooth muscle contraction and glandular secretion. Dysregulation of CHRM3 is implicated in disorders like asthma and overactive bladder syndrome....



CHRM3

INPPL1 (Inositol Polyphosphate Phosphatase-Like 1): INPPL1, also known as SHIP2 (Src Homology 2 domain-containing Inositol Phosphatase 2), is a phosphatase that plays a crucial role in the regulation of phosphoinositide signaling pathways, which are integral to various cellular processes such as proliferation, survival, and migration. This enzyme specifically dephosphorylates the 5' position of the inositol ring in phosphatidylinositol 3,4,5-trisphosphate (PIP3), thereby acting as a negative regulator of the PI3K (phosphoinositide 3-kinase) signaling pathway. INPPL1's activity is implicated in the modulation of insulin signaling and glucose homeostasis, making it a significant player in metabolic regulation and a potential target for the...

INPPL1

PDE8B (Phosphodiesterase 8B): PDE8B is another gene that encodes a phosphodiesterase enzyme, specifically phosphodiesterase 8B. Like PDE10A, it regulates cyclic nucleotide signaling, but its functions may vary across different tissues and cell types. PDE8B may have implications in various physiological processes....

PDE8B

GPR139, also known as G protein-coupled receptor 139, is a protein that belongs to the G protein-coupled receptor (GPCR) superfamily. It is primarily expressed in the central nervous system, particularly in regions associated with the regulation of neurotransmitter systems and neuronal activity. Although the specific functions of GPR139 are still being elucidated, it is believed to play a role in modulating neurotransmission, particularly in the regulation of dopamine and glutamate signaling. Studies have suggested that GPR139 may function as an inhibitory receptor, as its activation leads to decreased cAMP (cyclic adenosine monophosphate) levels and reduced neuronal excitability. Moreover, GPR139 has been implicated...

GPR139

PPARGC1B (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta): PPARGC1B is a coactivator of the PPARγ receptor, playing a significant role in energy metabolism. It is involved in the regulation of genes associated with energy production, such as those involved in mitochondrial biogenesis and fatty acid metabolism. This gene is pivotal in metabolic processes and has been linked to conditions like obesity and diabetes....

PPARGC1B

PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP, also known as ALIX, is involved in a range of cellular processes, including endocytosis, membrane repair, and cell death pathways. It plays a crucial role in the formation of multivesicular bodies and in the budding of enveloped viruses, like HIV. Dysfunctions in PDCD6IP are linked to neurodegenerative diseases and cancer due to its role in autophagy and apoptosis, highlighting its importance in cellular homeostasis and response to cellular stress....

PDCD6IP

FBXO24 (F-Box Protein 24): FBXO24 is part of the F-box protein family, which plays a role in protein degradation via the ubiquitin-proteasome system. It is involved in cell cycle regulation and protein turnover, but its specific physiological functions and implications in diseases are not fully elucidated....

FBXO24

PPFIA2 (PTPRF Interacting Protein Alpha 2): PPFIA2 is a member of the liprin family and plays a role in cell communication and adhesion. It's involved in the regulation of synaptic formation and maintenance, particularly in the central nervous system. The protein influences the development and plasticity of neural networks, and alterations in its function may contribute to neurological disorders....

PPFIA2

ZSCAN31 (Zinc Finger And SCAN Domain Containing 31): ZSCAN31 is a member of the zinc finger protein family, which is involved in DNA binding and gene transcription regulation. While specific functions of ZSCAN31 are still being elucidated, zinc finger proteins play significant roles in developmental processes, cellular differentiation, and the regulation of gene expression. Research on ZSCAN31 focuses on understanding its contribution to genetic regulation and its potential link to diseases, including its role in chromosomal stability and cancer....




ZSCAN31

KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9): KCNK9 encodes a member of the potassium channel family, specifically a two-pore-domain potassium channel. These channels are involved in setting the resting membrane potential and regulating neuronal excitability. Mutations in KCNK9 have been associated with Birk-Barel mental retardation dysmorphism syndrome, highlighting its role in neural development and function....

KCNK9

UBL3 (Ubiquitin-Like 3): UBL3 encodes a protein that is similar to ubiquitin, a key player in the protein degradation pathway. It is involved in protein modification and has been implicated in cellular processes like signal transduction and membrane trafficking. Dysregulation of UBL3 may have implications in various cellular dysfunctions....

UBL3

PLAUR (Plasminogen Activator, Urokinase Receptor): PLAUR, or urokinase plasminogen activator receptor, plays a crucial role in the regulation of proteolysis and cell migration. It is involved in tissue remodeling and wound healing processes by facilitating the conversion of plasminogen to plasmin, a serine protease that degrades fibrin and other extracellular matrix components. Overexpression of PLAUR has been linked to tumor invasion and metastasis, emphasizing its significance in cancer progression and as a potential therapeutic target....




PLAUR

ZNF816 (Zinc Finger Protein 816): ZNF816 belongs to the family of zinc finger proteins, which are involved in DNA binding and gene transcription regulation. Although specific functions of ZNF816 are less characterized, zinc finger proteins play crucial roles in developmental processes, cellular differentiation, and the regulation of gene expression. Research on ZNF816 and similar proteins aims to uncover their contributions to cellular processes and their potential links to diseases, including cancer and genetic disorders....

ZNF816

CSNK1G1 (Casein Kinase 1 Gamma 1): CSNK1G1 is part of the casein kinase 1 family, involved in various cellular processes including cell division, circadian rhythms, and Wnt signaling. Its role in Wnt signaling makes it relevant in developmental processes and potentially in cancer biology....



CSNK1G1

IRF8 (Interferon Regulatory Factor 8): IRF8 is a gene encoding a transcription factor that is important for the development and function of immune cells, including dendritic cells and macrophages. IRF8 regulates the expression of genes involved in immune responses and antigen presentation. Mutations in IRF8 can impact immune cell differentiation and function....

IRF8

IRS1 (Insulin Receptor Substrate 1): IRS1 is a pivotal signaling molecule involved in mediating the cellular response to insulin and various growth factors. It acts as an adaptor protein, linking activated insulin receptors to downstream signaling pathways. Through its interaction with multiple intracellular signaling molecules, IRS1 regulates key cellular processes such as glucose uptake, glycogen synthesis, protein synthesis, and cell growth and proliferation. Dysregulation of IRS1 signaling is implicated in insulin resistance, a hallmark of type 2 diabetes and other metabolic disorders, as well as in cancer and cardiovascular diseases. The intricate network of IRS1-mediated signaling pathways underscores its significance...

IRS1

KCNK2 (Potassium Two Pore Domain Channel Subfamily K Member 2): KCNK2 encodes a protein that forms part of a potassium channel, which plays a significant role in setting the electrical activity of neurons. These channels are involved in regulating neuronal excitability and are important for various physiological processes, including the regulation of sleep and anesthesia. Dysfunctions or mutations in KCNK2 have been implicated in neurological disorders, such as epilepsy and paroxysmal movement disorders....

KCNK2

IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor part of the Iroquois homeobox gene family, playing a significant role in embryonic development. It's involved in the patterning and morphogenesis of various tissues, including the heart and neural tissues. Dysregulation of IRX2 has been implicated in developmental disorders and potentially in cancer....

IRX2

CSMD3 (CUB And Sushi Multiple Domains 3): Similar to CSMD1, CSMD3 encodes a protein that participates in cell adhesion and signaling. It is also involved in immune response regulation and neuronal development. Research into CSMD3 is significant for understanding its role in diseases such as cancer and neurodevelopmental disorders....



CSMD3

IRX6 (Iroquois Homeobox 6): IRX6 is part of the Iroquois homeobox gene family, which plays a crucial role in early development. As a transcription factor, it's involved in the patterning and morphogenesis of various organs and tissues, particularly in the heart and oral-facial regions. Disruptions in IRX6 can lead to developmental anomalies, and it is a gene of interest in studies of congenital disorders and craniofacial development....

IRX6

FBXO8 (F-Box Protein 8): FBXO8 is part of the F-box family of proteins, which play critical roles in the ubiquitin-proteasome pathway, a system crucial for protein degradation and turnover in cells. As an F-box protein, FBXO8 is likely involved in targeting specific proteins for degradation, thereby regulating various cellular processes including cell cycle, signal transduction, and immune responses. The exact substrates and physiological functions of FBXO8 are not fully understood, but its involvement in protein degradation suggests its potential impact on cellular homeostasis and disease states, particularly in conditions where protein aggregation or misfolding is a concern, such as neurodegenerative...

FBXO8

CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene implicated in neural development and functioning. It is thought to play a role in the immune system and in synaptic plasticity. Genetic studies have associated CSMD1 with neuropsychiatric disorders, including schizophrenia and cognitive functions....



CSMD1

ISCA2 (Iron-Sulfur Cluster Assembly 2): ISCA2 is involved in the assembly of iron-sulfur clusters, which are critical for mitochondrial function and cellular energy production. Mutations in ISCA2 can lead to mitochondrial disorders, affecting energy metabolism in cells and causing a range of clinical symptoms....

ISCA2

BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase): BRAF is a key player in the MAPK/ERK signaling pathway, which regulates cell growth, proliferation, and differentiation. Mutations in BRAF are implicated in various cancers, including melanoma, thyroid cancer, and colorectal cancer. BRAF mutations are also involved in certain non-cancerous conditions, such as cardiofaciocutaneous syndrome, which affects the heart, facial features, and skin....



BRAF

STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a critical transcription factor involved in various cellular processes, including cell growth, differentiation, and apoptosis. It plays a significant role in the immune response and is heavily implicated in cancer biology, with dysregulation of STAT3 being linked to a variety of cancers and other diseases....



STAT3

ISL1 (ISL LIM Homeobox 1): ISL1 is a transcription factor that plays a crucial role in the development of various tissues, including the heart, motor neurons, and sensory neurons. It is involved in the differentiation and maintenance of these cell types during embryonic development and in adults. Mutations in ISL1 can lead to congenital heart defects and other developmental abnormalities....

ISL1

CSK (C-Src Tyrosine Kinase): CSK is a key regulatory enzyme that phosphorylates and thereby inhibits Src family tyrosine kinases, crucial components in signaling pathways for cell growth, differentiation, and survival. Dysregulation of CSK activity can lead to aberrant cellular signaling, contributing to the development of cancer and other diseases. Understanding CSK's regulatory mechanisms provides insights into the control of cell signaling and offers potential avenues for therapeutic intervention in diseases driven by tyrosine kinase dysregulation....



PLEKHM1 (Pleckstrin Homology Domain-Containing Family M Member 1): PLEKHM1 is a protein involved in autophagy and lysosome function. It plays a role in the fusion of autophagosomes with lysosomes, a key step in the autophagic process. Mutations in PLEKHM1 have been associated with osteopetrosis, a rare bone disorder....

PLEKHM1

GRINA (Glia Derived Nexin): GRINA is a protein that is thought to play a critical role in the central nervous system, particularly in neuroprotection and the regulation of neuronal excitability. It is part of a larger complex involved in the modulation of NMDA (N-methyl-D-aspartate) receptors, which are essential for synaptic plasticity, memory formation, and learning. The function of GRINA is associated with its ability to influence the activity of these receptors, potentially affecting neurodevelopmental processes and neural response mechanisms. Dysregulation of GRINA has been linked to various neurological disorders, including Alzheimer's disease, epilepsy, and schizophrenia, suggesting its involvement in the...

GRINA

PLN (Phospholamban): Phospholamban is a regulatory protein primarily found in cardiac muscle cells, where it plays a crucial role in the regulation of cardiac contractility and relaxation. This small transmembrane protein modulates the activity of the sarcoplasmic reticulum calcium ATPase (SERCA), which is responsible for pumping calcium ions back into the sarcoplasmic reticulum during cardiac relaxation. By inhibiting SERCA at baseline conditions, PLN helps maintain calcium homeostasis and prevents excessive calcium uptake during diastole. However, upon stimulation, PLN is phosphorylated, relieving its inhibitory effect on SERCA and enhancing calcium reuptake, thereby promoting cardiac muscle relaxation and ensuring efficient cardiac function....

POU5F2 (POU Class 5 Homeobox 2): POU5F2 is a transcription factor belonging to the POU family, known for their roles in developmental processes and cell type-specific gene expression. The specific functions of POU5F2 are not well characterized but may involve regulation of gene expression in certain developmental or cellular contexts....

POU5F2

PLPPR4 (Phospholipid Phosphatase-Related Protein 4): PLPPR4 is a gene related to phospholipid metabolism and signaling pathways. Phospholipids are essential components of cell membranes and are involved in various cellular processes, including cell signaling and membrane dynamics. PLPPR4 may play a role in regulating the levels of specific phospholipids, potentially impacting cell function and membrane properties....

PLPPR4

GP2 (Glycoprotein 2): GP2 is a membrane-bound protein primarily found in the pancreas and is involved in immune responses in the gastrointestinal tract. It is important for the binding and aggregation of bacteria, playing a role in protecting the gut from microbial invasion. Alterations in GP2 are studied in the context of pancreatic disorders and inflammatory bowel diseases....

IL5RA (Interleukin 5 Receptor Alpha): IL5RA is a component of the receptor for interleukin 5, a cytokine involved in the growth and differentiation of eosinophils. It plays a crucial role in immune responses, particularly in allergic reactions and asthma, where eosinophils are key effector cells. Targeting IL5RA is a therapeutic strategy for diseases characterized by eosinophilia, offering potential treatments for severe asthma and other eosinophil-associated disorders....

IL5RA

ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is part of a family of proteins involved in the stabilization of the extracellular matrix and in inflammation. It plays a role in tissue remodeling and repair, and dysregulation of ITIH1 has been implicated in various inflammatory conditions and potentially in cancer....

ITIH1

CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1): This gene is involved in the biosynthesis of chondroitin sulfate, a key component of the extracellular matrix in cartilage. It plays an important role in cartilage formation and joint function, and alterations in its activity are associated with skeletal disorders and joint diseases....



CSGALNACT1

ITIH3 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 3): ITIH3 is a component of the inter-alpha-trypsin inhibitor family, involved in extracellular matrix stabilization and inflammation modulation. It plays a role in tissue repair and protection against protease-mediated tissue damage. Dysregulation of ITIH3 has been linked to cancer progression and inflammatory diseases, highlighting its importance in tissue homeostasis and the inflammatory response....

ITIH3

PMM1 (Phosphomannomutase 1): PMM1 is an enzyme in the mannose pathway, critical for glycosylation, a process essential for proper function and stability of many proteins. Mutations in PMM1 can lead to congenital disorders of glycosylation, affecting multiple systems, including neurological and immune functions....




PMM1

IL4R (Interleukin 4 Receptor): IL4R is the receptor for interleukin 4 (IL4), a cytokine involved in the differentiation of naive T cells into Th2 cells, promoting B cell proliferation, and antibody production. IL4R signaling is critical for the development and regulation of allergic responses, including the production of IgE. Dysregulation of IL4R signaling has been implicated in the pathogenesis of asthma, atopic dermatitis, and other allergic conditions, making it a target for therapeutic intervention....

IL4R

PNKD (PNKD Serine/Threonine Kinase): PNKD is a gene that encodes a serine/threonine kinase, a type of enzyme involved in phosphorylation reactions. Mutations in the PNKD gene have been linked to a neurological disorder known as paroxysmal nonkinesigenic dyskinesia (PNKD). PNKD is characterized by sudden and involuntary movements, and the PNKD gene's function appears to be crucial in maintaining proper neuronal activity and movement control....

GLYCTK

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