| 1345184 | CBL | Cbl proto-oncogene | This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016] | 11 | 119206339 | 119308149 | Human | 835 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 733798 | CBLB | Cbl proto-oncogene B | This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017] | 3 | 105655461 | 105869449 | Human | 269 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1316966 | CBLC | Cbl proto-oncogene C | This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] | 19 | 44777869 | 44800652 | Human | 119 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 2290254 | VTRNA2-1 | vault RNA 2-1 | This gene produces an RNA polymerase III transcript that resembles both a component of the ribonucleoprotein vault particle and a pre-microRNA. However, the RNA product does not function as a vault or microRNA; rather, it acts as a direct inhibitor of protein kinase R (also known as eukaryotic trans lation initiation factor 2-alpha kinase 2, EIF2AK2), and thereby plays an important role in the regulation of cell growth. This gene is located in the vicinity of a differentially methylated region (DMR) and is imprinted and may show allele-specific expression. This gene is also often hypermethylated and repressed in cancers. [provided by RefSeq, Nov 2015] | 5 | 136080491 | 136080598 | Human | 13 | old_gene_symbol | gene, ncrna, REVIEWED [RefSeq] |
| 1321764 | CBLL1 | Cbl proto-oncogene like 1 | This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been ide ntified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011] | 7 | 107744142 | 107761667 | Human | 129 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1345445 | CBLL2 | Cbl proto-oncogene like 2 | This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality contro l. [provided by RefSeq, Aug 2011] | X | 22272913 | 22274461 | Human | 18 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1320080 | SORBS1 | sorbin and SH3 domain containing 1 | This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided b y RefSeq, Mar 2014] | 10 | 95311773 | 95561371 | Human | 242 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 732890 | SH3KBP1 | SH3 domain containing kinase binding protein 1 | This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskel etal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017] | X | 19533977 | 19887600 | Human | 234 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1321132 | UBASH3A | ubiquitin associated and SH3 domain containing A | This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] | 21 | 42403902 | 42447684 | Human | 52 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1605914 | UBASH3B | ubiquitin associated and SH3 domain containing B | This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and p latelet-derived growth factor receptor. [provided by RefSeq, Jul 2008] | 11 | 122655722 | 122814473 | Human | 151 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 735662 | CBLIF | cobalamin binding intrinsic factor | This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pe rnicious anemia. [provided by RefSeq, Jul 2008] | 11 | 59829273 | 59845499 | Human | 102 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1348062 | CBLN1 | cerebellin 1 precursor | This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in po stsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008] | 16 | 49277917 | 49281838 | Human | 105 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1320203 | CBLN2 | cerebellin 2 precursor | Predicted to be involved in maintenance of synapse structure and spontaneous synaptic transmission. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in synaptic cleft. Predicted to be part of trans-synaptic protein complex. Predicted to be activ e in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2025] | 18 | 72536681 | 72638521 | Human | 81 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1343800 | CBLN3 | cerebellin 3 precursor | Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. Ho wever, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009] | 14 | 24426545 | 24429668 | Human | 46 | symbol , COSMIC , description , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1346675 | CBLN4 | cerebellin 4 precursor | This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorect al cancer receptor. [provided by RefSeq, Aug 2012] | 20 | 55997357 | 56005519 | Human | 59 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 16555622 | CBLL1P1 | CBLL1 pseudogene 1 | | | | | Human | | symbol , COSMIC , name , Human Proteome Map | gene, processed_pseudogene |
| 30306013 | CBLL1P1 | CBLL1 pseudogene 1 | | X | 121025279 | 121026107 | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 16557546 | CBLL1-AS1 | CBLL1 antisense RNA 1 | | 7 | 107742753 | 107744581 | Human | | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 733977 | LMBRD1 | LMBR1 domain containing 1 | This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gen e are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009] | 6 | 69674010 | 69797010 | Human | 206 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1312825 | MMAA | metabolism of cobalamin associated A | The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methyl malonic aciduria. [provided by RefSeq, Jul 2008] | 4 | 145619385 | 145660033 | Human | 232 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1347796 | MMAB | metabolism of cobalamin associated B | This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalon ic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011] | 12 | 109553715 | 109573504 | Human | 267 | old_gene_name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1601765 | MMACHC | metabolism of cobalamin associated C | The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracell ular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] | 1 | 45500300 | 45513382 | Human | 383 | old_gene_name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1346733 | MMADHC | metabolism of cobalamin associated D | This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cbl pan>D (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] | 2 | 149569637 | 149587775 | Human | 157 | old_gene_name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 731933 | MTR | 5-methyltetrahydrofolate-homocysteine methyltransferase | This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency compleme ntation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] | 1 | 236795281 | 236903981 | Human | 409 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1318580 | MTRR | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase | This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activi ty of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015] | 5 | 7850859 | 7901113 | Human | 293 | old_gene_name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1346251 | PPP3R2 | protein phosphatase 3 regulatory subunit B, beta | Enables calcium-dependent protein serine/threonine phosphatase regulator activity. Predicted to be involved in calcineurin-mediated signaling. Predicted to act upstream of or within penetration of zona pellucida. Predicted to be located in cytosol. Predicted to be part of calcineurin complex. [provi ded by Alliance of Genome Resources, Jul 2025] | 9 | 101591604 | 101594969 | Human | 52 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1317504 | PTPN22 | protein tyrosine phosphatase non-receptor type 22 | This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regul ating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009] | 1 | 113813811 | 113871759 | Human | 470 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1351472 | ADIPOQ | adiponectin, C1Q and collagen domain containing | This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin def iciency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010] | 3 | 186842710 | 186858463 | Human | 916 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 735404 | ALB | albumin | This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additiona lly, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016] | 4 | 73404287 | 73421482 | Human | 1282 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 10216 | ATP7A | ATPase copper transporting alpha | This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013] | X | 77910693 | 78050395 | Human | 949 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1603380 | BCL2L14 | BCL2 like 14 | The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009] | 12 | 12049861 | 12099695 | Human | 105 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1315034 | CA9 | carbonic anhydrase 9 | Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrosp inal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014] | 9 | 35673928 | 35681159 | Human | 215 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1604657 | CD40 | CD40 molecule | This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell devel opment, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014] | 20 | 46118314 | 46129858 | Human | 558 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1320469 | CHODL | chondrolectin | This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] | 21 | 17917340 | 18267370 | Human | 82 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1349023 | CLEC2D | C-type lectin domain family 2 member D | This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants hav e been identified for this gene. [provided by RefSeq, Oct 2010] | 12 | 9669713 | 9699553 | Human | 155 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1319183 | CYLD | CYLD lysine 63 deubiquitinase | This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] | 16 | 50742086 | 50801935 | Human | 312 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1603040 | DUS2 | dihydrouridine synthase 2 | This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of translation by inhibiting an interferon-induced p rotein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] | 16 | 68023284 | 68079320 | Human | 83 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 732833 | EIF4E | eukaryotic translation initiation factor 4E | The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5'-cap structure. Associ ation of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] | 4 | 98879276 | 98929133 | Human | 363 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1343567 | F8 | coagulation factor VIII | This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcript s. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008] | X | 154835792 | 155022723 | Human | 796 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 736450 | FCGR3A | Fc gamma receptor IIIa | This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. T his gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020] | 1 | 161541759 | 161550737 | Human | 221 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1344631 | FGF21 | fibroblast growth factor 21 | Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The enco ded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016] | 19 | 48755524 | 48758330 | Human | 341 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1317736 | GMNN | geminin DNA replication inhibitor | This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expres sed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011] | 6 | 24774937 | 24786099 | Human | 357 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1349444 | HLA-A | major histocompatibility complex, class I, A | HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020] | 6 | 29942532 | 29945870 | Human | 300 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1352836 | HLA-B | major histocompatibility complex, class I, B | HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008] | 6 | 31353875 | 31357179 | Human | 573 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1343149 | HLA-C | major histocompatibility complex, class I, C | HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020] | 6 | 31268749 | 31272092 | Human | 172 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1347386 | HLA-DPB1 | major histocompatibility complex, class II, DP beta 1 | HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II mol ecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008] | 6 | 33075990 | 33089696 | Human | 296 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1351810 | HLA-DQA1 | major histocompatibility complex, class II, DQ alpha 1 | HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II mo lecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008] | 6 | 32637406 | 32655272 | Human | 464 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1349823 | HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molec ules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020] | 6 | 32578775 | 32589848 | Human | 861 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1343169 | HLA-DRB3 | major histocompatibility complex, class II, DR beta 3 | HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II mo lecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020] | | | | Human | 79 | GenBank Protein | gene, protein-coding, VALIDATED [RefSeq] |
| 1345500 | HLA-DRB4 | major histocompatibility complex, class II, DR beta 4 | HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II mo lecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020] | | | | Human | 75 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1316553 | IL21 | interleukin 21 | This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natur al killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] | 4 | 122610108 | 122621066 | Human | 190 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1312687 | IL21R | interleukin 21 receptor | The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] | 16 | 27402174 | 27452042 | Human | 160 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1344987 | IL22 | interleukin 22 | This gene is a member of the IL10 family of cytokines that mediate cellular inflammatory responses. The encoded protein functions in antimicrobial defense at mucosal surfaces and in tissue repair. This protein also has pro-inflammatory properties and plays a role in in the pathogenesis of several in testinal diseases. The encoded protein is a crucial cytokine that regulates host immunity in infectious diseases, including COVID-19 (disease caused by SARS-CoV-2). [provided by RefSeq, Dec 2021] | 12 | 68248242 | 68253604 | Human | 136 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1353267 | IL31 | interleukin 31 | IL31, which is made principally by activated Th2-type T cells, interacts with a heterodimeric receptor consisting of IL31RA (MIM 609510) and OSMR (MIM 601743) that is constitutively expressed on epithelial cells and keratinocytes. IL31 may be involved in the promotion of allergic skin disorders and in regulating other allergic diseases, such as asthma (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM, Mar 2008] | 12 | 122172029 | 122174221 | Human | 30 | GenBank Protein | gene, protein-coding, VALIDATED [RefSeq] |
| 1344882 | IL31RA | interleukin 31 receptor A | The protein encoded by this gene belongs to the type I cytokine receptor family. This receptor, with homology to gp130, is expressed on monocytes, and is involved in IL-31 signaling via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a receptor complex with oncostati n M receptor (OSMR). Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011] | 5 | 55839789 | 55922850 | Human | 83 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 736306 | IL4 | interleukin 4 | The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. IL4 is considered an important cytokine for tissue repair, counterbalancing the effects of proinflammatory type 1 cytokines, however, it also promotes allergic airway inflammation. Moreover, IL-4, a type 2 cytokine, mediates and regulates a variety of human host responses such as allergic, anti-parasitic, wound healing, and acute inflammation. This cytokine has been reported to promote resolution of neutrophil-mediated acute lung injury. In an allergic response, IL-4 has an essential role in the production of allergen-specific immunoglobin (Ig) E. This pro-inflammatory cytokine has been observed to be increased in COVID-19 (Coronavirus disease 2019) patients, but is not necessarily associated with severe COVID-19 pathology. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020] | 5 | 132673989 | 132682678 | Human | 1221 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 733473 | IRS1 | insulin receptor substrate 1 | This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009] | 2 | 226731312 | 226799820 | Human | 650 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 731798 | ITGAD | integrin subunit alpha D | This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocyt es. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] | 16 | 31393335 | 31426505 | Human | 67 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1605118 | LGR5 | leucine rich repeat containing G protein-coupled receptor 5 | The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] | 12 | 71439129 | 71586310 | Human | 173 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 736262 | MBP | myelin basic protein | The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008] | 18 | 76978833 | 77133708 | Human | 342 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1319059 | MELK | maternal embryonic leucine zipper kinase | Enables calcium ion binding activity; non-membrane spanning protein tyrosine kinase activity; and protein serine/threonine kinase activity. Involved in apoptotic process; cell population proliferation; and protein autophosphorylation. Located in cell cortex and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 9 | 36572895 | 36677682 | Human | 195 | GenBank Protein | gene, protein-coding, VALIDATED [RefSeq] |
| 1352311 | OSMR | oncostatin M receptor | This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleuk in 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] | 5 | 38846012 | 38945579 | Human | 204 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 730919 | RTN4 | reticulon 4 | This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] | 2 | 54972189 | 55137831 | Human | 298 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1607007 | RTN4R | reticulon 4 receptor | This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2 008] | 22 | 20241415 | 20268318 | Human | 174 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1347791 | SPAM1 | sperm adhesion molecule 1 | Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] | 7 | 123925241 | 123971414 | Human | 36 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 16568991 | AC007614.1 | novel transcript, antisense to CBLN1 | | | | | Human | | name | gene, lncrna |
| 16560390 | MMADHCP2 | MMADHC pseudogene 2 | | | | | Human | | old_gene_name | gene, processed_pseudogene |
| 16556870 | MMACHCP1 | MMACHC pseudogene 1 | | | | | Human | | old_gene_name | gene, processed_pseudogene |
