| 1314316 | CD68 | CD68 molecule | This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circu lating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008] | 17 | 7579638 | 7582111 | Human | 357 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 16555559 | MPDU1-AS1 | MPDU1 antisense RNA 1 | INTERACTS WITH okadaic acid | 17 | 7581967 | 7584092 | Human | 1 | old_gene_name | gene, ncrna, VALIDATED [RefSeq] |
| 1604361 | ACSL5 | acyl-CoA synthetase long chain family member 5 | The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereb y play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 10 | 112374116 | 112428376 | Human | 249 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 7287931 | ADAMTSL4-AS1 | ADAMTSL4 antisense RNA 1 | INTERACTS WITH (-)-epigallocatechin 3-gallate; aristolochic acid A; cadmium dichloride | 1 | 150560895 | 150574552 | Human | 7 | GenBank Nucleotide | gene, ncrna, VALIDATED [RefSeq] |
| 1321097 | ADGRF1 | adhesion G protein-coupled receptor F1 | Predicted to enable G protein-coupled receptor activity. Predicted to be involved in several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; fat cell differentiation; and nervous system development. Predicted to act upstream of or within memory and pos itive regulation of CREB transcription factor activity. Predicted to be located in membrane. Predicted to be active in cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Apr 2025] | 6 | 46997708 | 47042332 | Human | 86 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1605265 | ALG1L1P | ALG1 like 1, pseudogene | INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; iron dichloride | 3 | 125929272 | 125990537 | Human | 9 | GenBank Nucleotide | gene, pseudo, VALIDATED [RefSeq] |
| 732961 | ARL1 | ARF like GTPase 1 | The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane tra fficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] | 12 | 101393116 | 101407820 | Human | 123 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1312828 | BAZ2A | bromodomain adjacent to zinc finger domain 2A | Enables histone binding activity. Contributes to RNA polymerase I core promoter sequence-specific DNA binding activity. Predicted to be involved in DNA methylation-dependent constitutive heterochromatin formation; negative regulation of transcription by RNA polymerase I; and rDNA heterochromatin for mation. Predicted to act upstream of or within heterochromatin formation. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025] | 12 | 56595596 | 56638318 | Human | 99 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1346721 | BMS1P2 | BMS1 pseudogene 2 | INTERACTS WITH aflatoxin B1; benzo[a]pyrene; benzo[a]pyrene diol epoxide I | 10 | 47535574 | 47553523 | Human | 6 | GenBank Nucleotide | gene, pseudo, VALIDATED [RefSeq] |
| 1319839 | BNIPL | BCL2 interacting protein like | The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] | 1 | 151036586 | 151047720 | Human | 50 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1346267 | BTN3A2 | butyrophilin subfamily 3 member A2 | This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively s pliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] | 6 | 26365169 | 26378320 | Human | 84 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1601932 | CAPSL | calcyphosine like | Predicted to enable calcium ion binding activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 5 | 35904288 | 35938779 | Human | 54 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1605016 | CCDC32 | coiled-coil domain containing 32 | Involved in head development and regulation of clathrin-dependent endocytosis. Part of clathrin-coated pit. [provided by Alliance of Genome Resources, Jul 2025] | 15 | 40520993 | 40565042 | Human | 82 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1348815 | CD1B | CD1b molecule | This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. [provided by RefSeq, Jul 2008] | 1 | 158285405 | 158331531 | Human | 28 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735841 | CD38 | CD38 molecule | The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to beco me internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] | 4 | 15778328 | 15853232 | Human | 270 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1322746 | CDC26 | cell division cycle 26 | The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008] | 9 | 113266992 | 113275572 | Human | 91 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1316522 | CEP162 | centrosomal protein 162 | Involved in cilium assembly. Located in several cellular components, including Golgi apparatus; microtubule cytoskeleton; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 6 | 84124250 | 84227643 | Human | 63 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1605820 | CFAP47 | cilia and flagella associated protein 47 | While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009] | X | 35919734 | 36385317 | Human | 41 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1605872 | CFAP95 | cilia and flagella associated protein 95 | Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 9 | 69820817 | 69906227 | Human | 47 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1350557 | CFB | complement factor B | This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalyti c subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008] | 6 | 31946095 | 31952084 | Human | 446 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735941 | CREM | cAMP responsive element modulator | This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and transla tion initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008] | 10 | 35126846 | 35212958 | Human | 304 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1346102 | DCN | decorin | This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fi bril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015] | 12 | 91140484 | 91182817 | Human | 344 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1602219 | DCUN1D1 | defective in cullin neddylation 1 domain containing 1 | Enables cullin family protein binding activity. Involved in positive regulation of protein neddylation and regulation of protein ubiquitination. Located in cytosol and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025] | 3 | 182938074 | 182985918 | Human | 92 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1603257 | DNAH12 | dynein axonemal heavy chain 12 | Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in axoneme and microtubule. Predicted to be part of axonemal dynein complex. [provided by Alliance of Genome Resources, Jul 2025] | 3 | 57293700 | 57556034 | Human | 76 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1350551 | DNAJC24 | DnaJ heat shock protein family (Hsp40) member C24 | Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomona s exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008] | 11 | 31369860 | 31432835 | Human | 54 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1349054 | DRC11 | dynein regulatory complex subunit 11 | The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core dom ain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] | 2 | 236306685 | 236507476 | Human | 64 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1348644 | EIF4E2 | eukaryotic translation initiation factor 4E family member 2 | Enables RNA 7-methylguanosine cap binding activity; mRNA cap binding activity; and ubiquitin protein ligase binding activity. Involved in negative regulation of translational initiation; negative regulation of type I interferon-mediated signaling pathway; and rescue of stalled ribosome. Acts upstrea m of with a positive effect on miRNA-mediated gene silencing by inhibition of translation. Acts upstream of or within negative regulation of translation. Located in P-body. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 232550689 | 232583644 | Human | 128 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 730955 | GLUL | glutamate-ammonia ligase | The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferati on. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] | 1 | 182378098 | 182391790 | Human | 548 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731613 | H2AZ1 | H2A.Z variant histone 1 | Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008] | 4 | 99948088 | 99950275 | Human | 168 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1607036 | HILPDA | hypoxia inducible lipid droplet associated | Enables signaling receptor binding activity. Involved in several processes, including autocrine signaling; cellular response to hypoxia; and positive regulation of lipid storage. Located in several cellular components, including cell surface; lipid droplet; and secretory granule. Implicated in color ectal cancer and hepatocellular carcinoma. Biomarker of colorectal cancer and hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025] | 7 | 128455878 | 128458418 | Human | 171 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 10059148 | HUNK-AS1 | HUNK antisense RNA 1 | | | | | Human | | GenBank Nucleotide | gene, ncrna |
| 1603177 | KRT10-AS1 | KRT10 antisense RNA 1 | Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025] | 17 | 40819145 | 40836274 | Human | 23 | GenBank Nucleotide | gene, ncrna, VALIDATED [RefSeq] |
| 5687497 | LINC00539 | long intergenic non-protein coding RNA 539 | | 13 | 21303512 | 21344859 | Human | | GenBank Nucleotide | gene, ncrna, VALIDATED [RefSeq] |
| 1603986 | LRIF1 | ligand dependent nuclear receptor interacting factor 1 | Predicted to enable nuclear retinoic acid receptor binding activity. Involved in dosage compensation by inactivation of X chromosome. Located in centriolar satellite; chromosome, telomeric region; and nuclear lumen. Implicated in facioscapulohumeral muscular dystrophy 3. [provided by Alliance of Gen ome Resources, Jul 2025] | 1 | 110874957 | 110963922 | Human | 98 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1605249 | MILR1 | mast cell immunoglobulin like receptor 1 | Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway; mast cell degranulation; and negative regulation of mast cell activation. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 17 | 64449115 | 64497356 | Human | 51 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1604240 | MIX23 | mitochondrial matrix import factor 23 | Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025] | 3 | 122359591 | 122383231 | Human | 85 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1323386 | MS4A6A | membrane spanning 4-domains A6A | This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene enco ding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011] | 11 | 60171607 | 60184666 | Human | 116 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350711 | OAT | ornithine aminotransferase | This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal rec essive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010] | 10 | 124397303 | 124418923 | Human | 453 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1606519 | ODF2L | outer dense fiber of sperm tails 2 like | Involved in negative regulation of cilium assembly. Located in centriolar satellite and ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 86346837 | 86396323 | Human | 74 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1354174 | PHF6 | PHD finger protein 6 | This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010] | X | 134373312 | 134428790 | Human | 200 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1313105 | PNN | pinin, desmosome associated protein | Enables RNA binding activity. Predicted to be involved in cell adhesion and mRNA splicing, via spliceosome. Predicted to act upstream of or within cell-cell adhesion. Located in exon-exon junction complex and nuclear speck. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resour ces, Jul 2025] | 14 | 39175254 | 39183220 | Human | 158 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1349610 | PRDX3 | peroxiredoxin 3 | This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are high ly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014] | 10 | 119167720 | 119178812 | Human | 354 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1348091 | PRIM1 | DNA primase subunit 1 | The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008] | 12 | 56731580 | 56752323 | Human | 243 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 733694 | RPL6 | ribosomal protein L6 | This gene encodes a protein component of the 60S ribosomal subunit. This protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribo somal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] | 12 | 112405181 | 112418835 | Human | 182 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1349357 | SERPINA1 | serpin family A member 1 | The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymph oid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020] | 14 | 94376747 | 94390635 | Human | 450 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1315229 | SLITRK6 | SLIT and NTRK like family member 6 | This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulato r of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014] | 13 | 85792790 | 85799419 | Human | 180 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1605637 | SLTM | SAFB like transcription modulator | Enables RNA binding activity. Predicted to be involved in regulation of mRNA processing and regulation of transcription by RNA polymerase II. Located in nuclear body. [provided by Alliance of Genome Resources, Jul 2025] | 15 | 58879050 | 58933679 | Human | 94 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1313202 | SNAPC5 | small nuclear RNA activating complex polypeptide 5 | This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gen e transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6. [provided by RefSeq, Jul 2016] | 15 | 66489748 | 66497762 | Human | 72 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1343968 | SRSF11 | serine and arginine rich splicing factor 11 | This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. Alternati ve splicing results in multiple transcript variants encoding different proteins. In addition, a pseudogene of this gene has been found on chromosome 12.[provided by RefSeq, Sep 2010] | 1 | 70205696 | 70253052 | Human | 141 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1323217 | STAT2 | signal transducer and activator of transcription 2 | The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription ac tivators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020] | 12 | 56341597 | 56360107 | Human | 320 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732846 | XRCC6 | X-ray repair cross complementing 6 | The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008] | 22 | 41621295 | 41664041 | Human | 276 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1315977 | ZMYM1 | zinc finger MYM-type containing 1 | Predicted to enable protein dimerization activity and zinc ion binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 35059786 | 35118818 | Human | 48 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
