DNA

ABCA1 (ATP-binding cassette sub-family A member 1): ABCA1 is a membrane protein essential for transporting cholesterol and phospholipids from cells to lipid-poor apolipoproteins, forming nascent high-density lipoprotein (HDL) particles. This reverse cholesterol transport process helps maintain cholesterol balance and supports healthy lipid metabolism. ABCA1 is mainly expressed in the liver and in peripheral tissues such as macrophages, where it aids in cholesterol removal, contributing to cardiovascular protection. Mutations or reduced expression of ABCA1 can disrupt lipid homeostasis and increase the risk of atherosclerosis.

ADAL (Adenosine Deaminase-Like): ADAL (Adenosine Deaminase-Like) is a protein similar to adenosine deaminase (ADA) and is involved in purine metabolism. It plays a key role in the breakdown of adenosine, a molecule important for cellular energy transfer and signaling. ADAL’s activity in adenosine metabolism is essential for maintaining cellular energy balance and nucleotide homeostasis.

ADRB2 (Adrenoceptor Beta 2): ADRB2 is a gene that encodes the beta-2-adrenergic receptor, a protein involved in the body’s ‘fight or flight’ response. This receptor plays a key role in relaxing smooth muscles in the airways and blood vessels and serves as a target for medications used to treat asthma and COPD. Genetic variations in ADRB2 can influence an individual’s response to these treatments.

AQP10 (Aquaporin 10): AQP10 is a member of the aquaporin family of water channels, involved in the transport of water and small solutes across cell membranes. It is primarily expressed in the intestine and contributes to water absorption and gastrointestinal function. While its precise physiological roles are still being studied, AQP10 likely helps maintain water and electrolyte balance, with potential relevance to gastrointestinal health and disorders.

ARHGAP9 (Rho GTPase Activating Protein 9) is a gene that encodes a protein involved in regulating Rho family GTPases—molecules that control cell shape, movement, and structure. By modulating these signaling pathways, ARHGAP9 plays a role in cell migration, adhesion, and growth. It has been studied in cancer research for its potential influence on tumor cell invasion and metastasis.

CATSPER2 (Cation Channel, Sperm Associated 2): CATSPER2 is essential for sperm motility and fertility, forming part of a complex calcium channel in sperm necessary for the hyperactivated motility required for fertilisation. Mutations in CATSPER2 can lead to male infertility due to impaired sperm function. Research on CATSPER2 offers insights into reproductive health and potential targets for contraception or treatments for infertility.

CCBE1 (Collagen And Calcium Binding EGF Domains 1): CCBE1 is a gene essential for lymphangiogenesis, the formation of lymphatic vessels. It regulates vascular endothelial growth factor C (VEGF-C), a key factor in lymphatic system development. Mutations in CCBE1 can cause Hennekam syndrome, a rare disorder marked by lymphedema, lymphangiectasia, and intellectual disability.

CD36 (Cluster of Differentiation 36): CD36 is a multifunctional protein that acts as a receptor for several ligands, including oxidized LDL, fatty acids, and phospholipids. It plays key roles in fatty acid metabolism, inflammation, and atherogenesis. CD36’s involvement in lipid metabolism and its contribution to cardiovascular diseases and metabolic syndrome make it an important focus of medical research.

CDK6 (Cyclin-Dependent Kinase 6): CDK6 is a protein that, when combined with D-type cyclins, plays a key role in regulating the cell cycle, especially the transition from the G1 to S phase. It is essential for cell proliferation and differentiation. Dysregulation of CDK6 has been associated with various cancers, making it an important target for cancer therapies, particularly in tumors with CDK6 overexpression or abnormal activity.

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.

CTRC (Chymotrypsin C) is a gene that encodes an enzyme involved in protein digestion within the pancreas. This enzyme helps regulate digestive processes, and mutations in CTRC have been linked to chronic pancreatitis — a condition marked by persistent inflammation and pancreatic damage. Understanding CTRC is important for studying pancreatic health and related disorders.

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.

EIF4A1, also known as Eukaryotic Translation Initiation Factor 4A1, is a highly conserved RNA helicase enzyme that plays a key role in the initiation of translation, the essential process of protein synthesis. As a member of the DEAD-box RNA helicase family, EIF4A1 is responsible for unwinding secondary structures in mRNA, allowing ribosomes to access the initiation codon and start protein production. It functions as part of the eukaryotic translation initiation complex, working together with other initiation factors to bind and scan the 5' untranslated region (UTR) of mRNA.

FAM53A (Family With Sequence Similarity 53 Member A): FAM53A is involved in the regulation of cell proliferation and may play a role in cell development and differentiation. Although its function has been less studied, it appears to be crucial for normal cellular functions and possibly for maintaining cell integrity. Ongoing research aims to clarify its precise roles and how its regulatory disturbances may impact disease processes, such as cancer and developmental disorders.

FBXO21 (F-Box Protein 21): FBXO21 is a gene that encodes a protein belonging to the F-box family, which plays a key role in the ubiquitin-proteasome system responsible for protein degradation. It is involved in regulating important cellular processes like the cell cycle and signal transduction. Dysregulation of FBXO21 can affect protein homeostasis and is relevant in diseases characterized by disrupted protein turnover, including neurodegenerative disorders and cancers.

FOXP1

GFI1B (Growth Factor Independence 1B): GFI1B is a transcriptional repressor that plays a key role in the development and differentiation of red blood cells and platelets. It regulates genes involved in the cell cycle and apoptosis, helping maintain a balance between cell growth and maturation. Dysregulation of GFI1B is associated with blood disorders such as anemia and thrombocytopenia, and it also contributes to leukemia development. Its function is essential for maintaining hematopoietic cell balance and highlights the complexity of blood cell production.

GJA10 (Gap Junction Protein Alpha 10): GJA10 is a gene that encodes a connexin protein forming gap junction channels for direct exchange of ions and small molecules between cells. This communication supports tissue homeostasis and coordinated cell activity. In the eye, GJA10 helps maintain lens transparency and function, and mutations have been associated with cataracts and other vision disorders.

GP2 (Glycoprotein 2): GP2 is a gene that encodes a membrane-bound protein mainly found in the pancreas and involved in immune responses within the gastrointestinal tract. It plays a role in binding and aggregating bacteria, helping to protect the gut from microbial invasion. Changes in GP2 are studied for their potential links to pancreatic disorders and inflammatory bowel diseases.

GSTP1 (Glutathione S-Transferase Pi 1): GSTP1 is an enzyme involved in detoxification processes by conjugating reduced glutathione to a variety of both external and internal compounds. Variations in GSTP1 are linked to susceptibility to cancer and other diseases where detoxification plays a key role.

HGF (Hepatocyte Growth Factor): Hepatocyte Growth Factor (HGF) is a multifunctional growth factor that influences various cells by promoting cell growth, motility, and morphogenesis. It plays a key role in liver regeneration as a powerful mitogen for hepatocytes and is involved in wound healing and tissue repair. HGF’s ability to stimulate cell growth and migration also makes it important in cancer research, where it can affect tumor growth and metastasis. The therapeutic potential of HGF and its inhibitors is a major focus in regenerative medicine and oncology.

HLA-DQA1 (Human Leukocyte Antigen DQ Alpha 1 Chain): HLA-DQA1 is a key component of the MHC class II molecule complex. It plays an essential role in the immune system by presenting peptide antigens to CD4+ T cells. This function is critical for triggering the adaptive immune response against pathogens. Variations in the HLA-DQA1 gene are linked to susceptibility to autoimmune diseases like type 1 diabetes and celiac disease, highlighting its importance in immune regulation and disease risk.

HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 encodes an enzyme involved in the synthesis of ketone bodies, which serve as alternative energy sources produced during fasting or periods of low carbohydrate intake. It plays a role in energy metabolism and is primarily expressed in the liver.

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 balance make it a focus of research in both immunology and oncology.

IL13 (Interleukin 13): IL13 is a cytokine that reflects the regulation of immune responses, particularly in allergic inflammation and asthma. It plays a key role in modulating antibody production and controlling inflammatory reactions, especially in allergic diseases and defense against parasitic infections.

JAKMIP2 (Janus Kinase And Microtubule Interacting Protein 2): JAKMIP2 is a protein involved in the regulation of Janus kinase (JAK) signaling pathways, which are essential for key cellular processes such as immune function and cell growth. Dysregulation of JAKMIP2 can affect immune responses and may have implications in autoimmune disorders and cancer.

JHY (Jellybean Homologue Y): JHY is a protein involved in intracellular signaling pathways that regulate key aspects of cell behavior, including proliferation, differentiation, migration, and survival. By influencing these processes, JHY helps maintain cellular homeostasis. Alterations in its expression or function have been linked to pathological conditions, including cancer.

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.

KIAA0825: KIAA0825 is a less characterized gene, with limited information currently available regarding its function. Genes in the KIAA series were originally identified through large-scale sequencing projects and are thought to play roles in various cellular processes and disease mechanisms, though further research is needed to fully understand their functions.

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 disorders and for guiding the development of targeted therapies.

KIF17 (Kinesin Family Member 17): KIF17 is a motor protein that moves cargo along microtubules, playing a critical role in intracellular transport, especially in neurons. It is essential for the anterograde transport of molecules like NMDA receptors to synaptic sites, influencing synaptic plasticity and memory formation. Dysregulation of KIF17 has been associated with neurological disorders, highlighting its importance in neuronal function and health.

KIF2B (Kinesin Family Member 2B): KIF2B is a protein that plays a key role in microtubule dynamics, which are essential for proper chromosome segregation during cell division. As a member of the kinesin motor protein family, KIF2B is important for intracellular transport and cell motility. Dysfunctions in KIF2B can lead to mitotic errors and have potential implications in cancer.

LARP4B (La-Related Protein 4B): LARP4B is a member of the La-related protein (LARP) family, which plays a role in regulating RNA stability and translation. While the specific functions of LARP4B are still being studied, LARPs generally contribute to post-transcriptional gene regulation by affecting mRNA stability, translation, and cell growth. Understanding LARP4B may provide important insights into gene expression control and its links to diseases involving RNA dysregulation.

LPIN2 (Lipin 2): LPIN2 is essential for lipid metabolism and energy production, playing a key role in converting phosphatidic acid into diacylglycerol, a critical step in the synthesis of triglycerides and phospholipids. It also participates in regulating gene expression related to lipid metabolism and inflammation. Mutations in LPIN2 are linked to Majeed syndrome, which is characterised by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anaemia, underscoring its significance in both metabolic functions and immune regulation.

LRRC42 (Leucine-rich repeat-containing protein 42):LRRC42 is a gene that encodes a protein belonging to the leucine-rich repeat (LRR) family, characterized by repeating sequences rich in leucine residues. Predominantly located in the cytoplasm or on the cell membrane, LRRC42 is involved in cellular processes such as signal transduction, protein-protein interactions, and cell adhesion. Its LRR domains serve as interaction interfaces, enabling LRRC42 to bind specific partner proteins and participate in diverse cellular pathways.

LRRC6 (Leucine-Rich Repeat-Containing Protein 6): LRRC6 is a gene that encodes a protein involved in the structure of cilia within cells. Cilia play a key role in cellular movement and signaling. Mutations in LRRC6 can cause ciliopathies, a group of genetic disorders marked by ciliary dysfunction and a range of clinical symptoms.

LRTM1 (Leucine Rich Repeats And Transmembrane Domains 1): LRTM1 is a gene involved in neural development and synaptic function. It plays a key role in neuronal communication and is potentially linked to neurodegenerative diseases, making it important for understanding brain health and neurological disorders.

MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1): MAP3K1 is a key component of the MAPK signaling pathway, which regulates essential cellular processes such as proliferation, differentiation, and stress response. Mutations in MAP3K1 can contribute to developmental disorders and are associated with various types of cancer.

MAP7 (Microtubule-Associated Protein 7): MAP7 is a protein involved in stabilizing microtubules and interacting with motor proteins. It influences cell movement and organization and plays a role in processes such as mitosis and intracellular transport. MAP7 is important for maintaining cellular structure and dynamics.

MAT1A (Methionine Adenosyltransferase I, Alpha) is an enzyme that produces S-adenosylmethionine (SAMe), the body’s primary methyl donor for key metabolic processes. It plays a central role in methionine metabolism, influencing gene regulation, cell growth, and detoxification. Reduced MAT1A activity is linked to liver disorders such as cirrhosis and hepatocellular carcinoma.

MCPH1 (Microcephalin 1): MCPH1 is a gene that plays a key role in brain development, particularly in regulating brain size. It is involved in DNA damage response and cell cycle control. Mutations in MCPH1 can lead to microcephaly, highlighting its important role in neurodevelopment.

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 congenital heart defects.

MON1B (Mon1 Homolog B): MON1B is a protein that plays a role in intracellular trafficking and autophagy, two essential processes for maintaining cellular homeostasis and responding to stress. It is involved in regulating vesicle transport and has implications in neurodegenerative diseases and metabolic disorders.

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.

MTX1 (Metaxin 1): MTX1 is a gene that encodes a protein involved in mitochondrial transport and organization. This protein helps maintain proper mitochondrial positioning and function, which is essential for energy production and overall cellular processes.

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 regulation and its pathways is critical for developing targeted cancer therapies, as its dysregulation contributes to tumor growth, progression, and treatment resistance.

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.

MYPOP (Myb-related transcription factor partner): MYPOP is a key regulator that interacts with Myb-related transcription factors to modulate gene expression. Similar to MMP15’s role in the extracellular matrix, MYPOP plays a vital part in controlling cellular processes such as proliferation, differentiation, and cell cycle progression. Through its influence on transcriptional regulation, MYPOP impacts important physiological functions including tissue development, immune response, and maintenance of homeostasis. Dysregulation of MYPOP has been linked to various pathological conditions, including cancer, developmental disorders, and immune diseases.

NFKBIE (NF-Kappa-B Inhibitor Epsilon):NFKBIE is a gene that encodes a key regulator of the NF-kappa-B pathway, which plays an important role in immune responses, inflammation, and cell survival. It functions by inhibiting NF-kappa-B activity, helping to control the expression of genes involved in immune and inflammatory processes. Dysregulation of NFKBIE has been associated with autoimmune diseases, chronic inflammation, and cancer, emphasizing its role in immune regulation and disease development.

NLGN1 is a measure that reflects the presence and function of a key protein in the nervous system — Neuroligin 1, encoded by the NLGN1 gene. It plays a vital role in the formation and modulation of synapses, supporting synaptic specialization, strength, and plasticity. NLGN1 is critical for learning, memory, and overall brain function, and has been a focus in research on autism spectrum disorders and other neurodevelopmental conditions.

NNMT (Nicotinamide N-Methyltransferase): NNMT is an enzyme that methylates nicotinamide (vitamin B3) and plays a key role in regulating cellular metabolism and energy balance. Its activity has been associated with obesity, metabolic disorders, and cancer, making NNMT an important target for therapeutic interventions.

NR1H3: NR1H3 is a gene that encodes the liver X receptor alpha (LXRα), a nuclear receptor that regulates the expression of genes involved in cholesterol and lipid metabolism. It plays a key role in maintaining cholesterol balance and has been linked to the development of atherosclerosis and other metabolic disorders.

OAT (Ornithine Aminotransferase): OAT is a gene that encodes the ornithine aminotransferase enzyme, which plays a key role in the urea cycle. This enzyme catalyzes the conversion of ornithine to citrulline, helping the body detoxify ammonia. Mutations in OAT can disrupt this process, leading to hyperammonemia — a condition marked by elevated blood ammonia levels that can affect neurological function.

OR2M3 (Olfactory Receptor, Family 2, Subfamily M, Member 3): OR2M3 is a gene that belongs to the large olfactory receptor family, which is responsible for the sense of smell. These receptors detect volatile odor molecules and are highly diverse, enabling the perception of many different scents. OR2M3 is expressed in the olfactory epithelium of the nose and plays a key role in odor detection and signal transmission to the brain. Research on OR2M3 and related receptors helps deepen our understanding of smell and has potential applications in flavor science and sensory biology.

OR7A17 (Olfactory Receptor, Family 7, Subfamily A, Member 17): OR7A17 is a gene that encodes a protein belonging to the olfactory receptor family, which is involved in detecting odor molecules. This large gene family plays a key role in the sense of smell and the complex signaling pathways related to olfaction.

PFKFB3, or 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3, is an enzyme that plays a key role in cellular energy metabolism, specifically in glycolysis. It regulates the levels of fructose-2,6-bisphosphate (F2,6BP), a powerful allosteric activator of 6-phosphofructo-1-kinase (PFK-1), which is a critical enzyme in glycolysis. By controlling F2,6BP levels, PFKFB3 promotes PFK-1 activity, enhancing the conversion of fructose-6-phosphate (F6P) to fructose-1,6-bisphosphate (F1,6BP) and boosting the flow of glucose through the glycolytic pathway.

PFKL (Phosphofructokinase, liver type): PFKL is an enzyme involved in glycolysis — an important metabolic pathway that breaks down glucose to produce energy. It plays a crucial role in glucose metabolism and energy production, especially in the liver where it supports both glucose utilization and storage.

PHACTR2 (Phosphatase and Actin Regulator 2): PHACTR2 (Phosphatase and Actin Regulator 2) is a gene that reflects the regulation of key cellular processes, including cell signaling and cytoskeletal dynamics. It encodes a protein that interacts with protein phosphatase 1 (PP1) and actin, playing a role in the organization of actin filaments and the maintenance of cell shape. PHACTR2 is involved in processes such as cell migration and may contribute to neuronal development.

PHF14 (PHD Finger Protein 14): PHF14 is a gene that encodes a protein containing a PHD finger domain. This suggests a role in chromatin-mediated regulation of gene expression. PHF14 may be involved in developmental processes and cell differentiation. Dysregulation of PHF14 has been linked to developmental disorders and various cancers.

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.

PLAAT1 (Phospholipase A And Acyltransferase 1): PLAAT1 is an enzyme that participates in lipid metabolism, particularly in the remodeling of phospholipids within cell membranes. While its precise physiological roles are not fully defined, PLAAT1 may contribute to cell signaling and membrane dynamics, with potential links to metabolic and inflammatory processes.

POGZ (Pogo Transposable Element Derived with ZNF Domain): POGZ is a protein featuring zinc finger domains that plays a key role in chromatin remodeling and gene regulation. It is essential for shaping chromatin structure and controlling gene expression. Mutations in POGZ are associated with neurodevelopmental disorders, highlighting its importance in brain development and function.

PON2 (Paraoxonase 2): PON2 is a gene that encodes an enzyme belonging to the paraoxonase family. This enzyme plays a key role in detoxification and antioxidant defense, helping to protect the body against oxidative stress and lipid peroxidation. PON2 is therefore important for cardiovascular health and other conditions related to oxidative stress.

POU3F3 (POU Class 3 Homeobox 3): POU3F3 is a member of the POU family of transcription factors, involved in regulating gene expression during nervous system development. It plays a key role in the differentiation and maintenance of neural progenitor cells, influencing the formation of various brain regions. Mutations or dysregulation of POU3F3 have been linked to neurodevelopmental disorders and may contribute to certain psychiatric conditions.

PPARG (Peroxisome Proliferator-Activated Receptor Gamma): PPARG is a nuclear receptor that regulates the expression of genes involved in fatty acid storage, glucose metabolism, and adipocyte differentiation. It plays a central role in insulin sensitivity and is targeted by thiazolidinediones, a class of antidiabetic drugs. Its involvement in metabolic pathways makes it an important gene in the study of obesity, diabetes, and cardiovascular disease.

PROX1 (Prospero Homeobox 1): PROX1 is a transcription factor that regulates gene expression and is involved in key developmental processes. It plays a central role in lymphatic vessel formation, liver development, and cell fate determination. In the lymphatic system, PROX1 acts as a master regulator of lymphatic endothelial cell differentiation and maintenance.

RAB28 (Ras-Related Protein Rab-28): RAB28 is a member of the RAB family of small GTPases, proteins involved in regulating intracellular vesicle trafficking. RAB28 contributes to vesicle transport and membrane dynamics within the cell.

RAD52 (RAD52 Homolog, DNA Repair Protein): RAD52 is a gene that encodes a protein essential for repairing DNA double-strand breaks, helping maintain genomic stability. It is particularly involved in the homologous recombination repair pathway, which ensures accurate DNA repair during cell division. Defects in RAD52 can contribute to genomic instability, increasing the risk of cancer and certain inherited disorders.

RBFOX1 (RNA Binding Fox-1 Homolog 1): RBFOX1 is an RNA binding protein that plays a key role in regulating alternative splicing. It influences the diversity and function of mRNA transcripts in the nervous system and skeletal muscle. By targeting a wide range of pre-mRNAs, RBFOX1 modulates splicing patterns to control gene expression important for neuronal development, synaptic function, and muscle cell differentiation. Proper RBFOX1 activity is essential for central nervous system development, and its dysregulation has been linked to neurological disorders such as epilepsy and autism spectrum disorders.

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.

RRAGC (Ras Related GTP Binding C): RRAGC is a member of the small GTPase family and plays a key role in amino acid sensing and mTOR signaling. This gene is important for regulating cellular growth, proliferation, and metabolism. Dysregulation of RRAGC can affect cellular energy balance and has been associated with metabolic disorders.

RSU1 (Ras Suppressor Protein 1): RSU1 is a protein that interacts with key signaling molecules, including Ras. It plays an important role in regulating cell adhesion and motility, contributing to various cell signaling pathways. RSU1 may also have implications in cancer progression and metastasis.

RTL1 (Retrotransposon Like 1): RTL1 is a gene believed to originate from a retrotransposon and plays a key role in placental development. It exhibits imprinted expression, meaning it is active from only one parental allele. Dysregulation of RTL1 can contribute to disorders associated with genomic imprinting, such as Beckwith-Wiedemann syndrome.

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.

SCGN (Secretagogin): SCGN is a gene that encodes a calcium-binding protein predominantly expressed in neuroendocrine cells. It plays a role in regulating hormone secretion and cellular signaling. SCGN may also contribute to neuroprotective mechanisms and has been studied for its potential involvement in neurological disorders, including Alzheimer’s disease.

SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha): SCNN1A is a gene that encodes the alpha subunit of the epithelial sodium channel (ENaC), which regulates sodium balance and fluid homeostasis in tissues such as the lungs, kidneys, and colon. This subunit is essential for ENaC’s assembly, localization, and function, enabling sodium absorption that supports blood pressure, fluid volume, and electrolyte balance. Mutations in SCNN1A can alter channel activity and are linked to conditions such as pseudohypoaldosteronism type 1 (PHA1), a disorder affecting salt regulation.

SEMA4B (Semaphorin 4B): SEMA4B is a gene that encodes an enzyme essential for the biosynthesis of selenoproteins, which contain the amino acid selenocysteine. Predominantly located in the cytoplasm, SEPHS1 plays a key role in selenium metabolism by producing selenophosphate, the activated form of selenium required for selenocysteine incorporation into proteins. Through this activity, SEPHS1 supports the proper synthesis of selenoproteins, which are important for various cellular processes and overall cellular health.

SERPINE2 (Serpin Family E Member 2): SERPINE2 is a serine protease inhibitor, also known as protease nexin-1, that plays a key role in regulating proteolytic pathways in the body. It is involved in tissue remodeling, fibrinolysis, and neuronal growth, and helps inhibit enzymes such as thrombin and urokinase-type plasminogen activator, which are important for blood clotting and tissue repair. Dysregulation of SERPINE2 has been linked to cardiovascular and neurological disorders, highlighting its importance in maintaining tissue integrity and function.

SOX2, short for SRY (Sex Determining Region Y)-Box 2, is a key transcription factor involved in embryonic development, stem cell pluripotency, and tissue homeostasis. Located mainly in the cell nucleus, SOX2 regulates gene expression by binding to specific DNA sequences and controlling target gene activity. It plays a major role in maintaining stem cell pluripotency and self-renewal, working alongside other transcription factors like OCT4 and NANOG to form a core network that preserves the undifferentiated state of embryonic stem cells.

SPATA5 (Spermatogenesis-Associated 5) is a gene involved in spermatogenesis, the process of sperm development. It plays a key role in male fertility by supporting proper sperm formation. Mutations in SPATA5 have been linked to fertility problems and male infertility.

SRPK2 (SRSF Protein Kinase 2): SRPK2 is a kinase involved in the phosphorylation of serine/arginine-rich proteins, which are components of the spliceosome. It plays a key role in regulating alternative splicing and gene expression. SRPK2 is important for neuronal function and may be linked to neurodegenerative diseases by affecting splicing regulation. Ongoing research explores SRPK2’s role in diseases like Alzheimer’s and its potential as a therapeutic target.

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, and increased risk of malignant hyperthermia. Studying STAC3 is vital for understanding muscle physiology and related disorders.

STK32A (Serine/Threonine Kinase 32A): STK32A is a gene that encodes a serine/threonine kinase — an enzyme that modifies proteins by adding phosphate groups. Such kinases are involved in key cellular processes, including signaling, cell cycle regulation, and apoptosis. The precise functions of STK32A are still under investigation, with research exploring its role in cell regulation and potential links to diseases such as cancer.

STMN3 (Stathmin 3): STMN3 is a protein that regulates microtubule dynamics by destabilizing microtubules. This function is essential for processes like cell division, intracellular transport, and cell movement. In neurons, STMN3 plays a role in axonal growth and synaptic function, and its dysregulation may be linked to neurodevelopmental and neurodegenerative disorders.

TLN2 (Talin 2): TLN2 is a gene that encodes the talin 2 protein, which is involved in integrin-mediated signaling and plays a key role in cell adhesion, migration, and signaling. It contributes to the formation and stabilization of integrin-based adhesions and may influence important cellular processes, including immune responses and cancer progression.

TMC5 (Transmembrane Channel Like 5): TMC5 is a protein belonging to the TMC family, a group thought to function as ion channels or transporters. While its precise role remains unclear, TMC5 may play a part in sensory perception or maintaining cellular balance. Research is ongoing to understand its function and potential relevance to health and disease.

TMEM116 (Transmembrane Protein 116): TMEM116 is a gene that encodes a transmembrane protein involved in diverse cellular processes. While its specific function is still being studied, TMEM116 is thought to participate in cellular transport and signaling pathways, including membrane dynamics, vesicle trafficking, and ion channel regulation. Emerging research suggests it may contribute to cellular homeostasis and intracellular communication, and dysregulation of TMEM116 could impact various physiological processes.

TMEM132B (Transmembrane Protein 132B): TMEM132B is a membrane-bound protein implicated in neuronal signaling and synaptic plasticity. It has been linked to anxiety-related traits and is studied for its potential role in anxiety and mood disorders.

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.

TOMM40 (Translocase of Outer Mitochondrial Membrane 40): TOMM40 is a key protein involved in mitochondrial function, specifically in importing proteins into the mitochondria. As part of the TOM complex, TOMM40 helps transport nuclear-encoded proteins across the outer mitochondrial membrane so they can carry out essential roles inside the mitochondria. Variants of TOMM40 are notably linked to Alzheimer's disease, influencing the risk and age of onset. It has also been associated with other neurodegenerative disorders and age-related cognitive decline.

TPSB2 (Tryptase Beta 2): TPSB2 is a gene that encodes a protein belonging to the serine protease family, specifically a type of tryptase. This protein is primarily found in mast cells and plays a role in allergic responses, inflammation, and immune regulation. Elevated TPSB2 levels are associated with allergic reactions and certain mast cell-related disorders.

TRPS1 (Tricho-Rhino-Phalangeal Syndrome Type I): TRPS1 is a transcription factor that plays a key role in regulating the growth and development of bone, hair, and connective tissue. Mutations in TRPS1 lead to Tricho-Rhino-Phalangeal Syndrome, which is characterized by craniofacial and skeletal abnormalities. Understanding TRPS1’s function is important for diagnosing and managing this syndrome, with ongoing research focused on its role in tissue development and differentiation.

TSPAN3 (Tetraspanin 3): TSPAN3 is a protein that belongs to the tetraspanin family, which is involved in cell adhesion, signaling, and membrane organization. It plays roles in processes such as immune cell activation and the spread of cancer cells (metastasis).

UPP1 (Uridine Phosphorylase 1): UPP1 is an enzyme involved in the pyrimidine salvage pathway, converting uridine into uracil and ribose-1-phosphate. It plays a critical role in nucleotide metabolism, supporting DNA and RNA synthesis and other cellular processes. Its activity is particularly important in chemotherapy, as it influences the activation and effectiveness of certain anticancer drugs.

VCAN (Versican): VCAN is a gene that encodes versican, a large proteoglycan found in the extracellular matrix of tissues. Versican is involved in cell adhesion, migration, and tissue development. It plays a role in maintaining tissue structure and may contribute to processes such as wound healing and embryonic development.

WSB1 (WD Repeat And SOCS Box Containing 1): WSB1 is a member of the SOCS (Suppressor of Cytokine Signaling) box family, which are involved in protein degradation pathways. It plays a key role in regulating various signaling pathways and is implicated in the response to hypoxia as well as in the regulation of thyroid hormone activation.

XYLT1 (Xylosyltransferase 1): XYLT1 is an enzyme involved in the biosynthesis of proteoglycans, which are important components of the extracellular matrix. It adds xylose to specific serine residues in proteoglycans, a crucial step in the formation of connective tissues. Mutations in XYLT1 can lead to skeletal and connective tissue disorders, highlighting its role in tissue development and maintenance.

ZCCHC14 (Zinc Finger, CCHC Domain Containing 14): ZCCHC14 is a gene that encodes a protein featuring zinc finger and CCHC domains. These domains suggest a role in nucleic acid binding and regulation. While the specific functions of ZCCHC14 are still under investigation, ongoing research aims to clarify its role in cellular processes.

ZFP64 (ZFP64 Zinc Finger Protein): ZFP64 is a zinc finger protein involved in gene regulation. Zinc finger proteins can bind to specific DNA sequences and influence gene expression. The specific targets and functions of ZFP64 in cellular processes are still under investigation.

ZFPM1 (Zinc Finger Protein, FOG Family Member 1): ZFPM1 is a cofactor that interacts with GATA family transcription factors, playing a key role in the development and differentiation of various cell types, especially those in the heart and blood. It is essential for the differentiation of erythroid and megakaryocyte lineages. Mutations or dysregulation of ZFPM1 can impact hematopoiesis, potentially leading to blood disorders. Additionally, its role in cardiac development links it to congenital heart defects. Research on ZFPM1 aims to better understand its function in gene regulation networks that control cell fate decisions, with potential implications for therapies targeting these conditions.