| 1348081 | MN1 | MN1 proto-oncogene, transcriptional regulator | Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008] | 22 | 27748277 | 27801756 | Human | 193 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1565571 | Mn1 | MN1 proto-oncogene, transcriptional regulator | INVOLVED IN intramembranous ossification (ortholog); negative regulation of osteoblast proliferation (ortholog); positive regulation of vitamin D receptor signaling pathway (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); atrial heart septal defect (ortholog); CEBALID Syndrome (ortholo g); FOUND IN nucleus (ortholog); INTERACTS WITH 2,2',4,4'-Tetrabromodiphenyl ether; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran | 12 | 50841632 | 50880795 | Rat | 133 | symbol , old_gene_name , PhenoGen , name | gene, protein-coding, VALIDATED [RefSeq] |
| 1615466 | Mn1 | Mn1 proto-oncogene, transcriptional regulator | Acts upstream of or within intramembranous ossification. Predicted to be located in nucleus. Is expressed in several structures, including brain; limb long bone; palatal shelf; tarsus; and ventral grey horn. Human ortholog(s) of this gene implicated in familial meningioma; meningioma; and myeloid le ukemia. Orthologous to human MN1 (MN1 proto-oncogene, transcriptional regulator). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 111565145 | 111604890 | Mouse | 166 | symbol , old_gene_name , PhenoGen , name , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8982625 | Mn1 | MN1 proto-oncogene, transcriptional regulator | INVOLVED IN intramembranous ossification (ortholog); negative regulation of osteoblast proliferation (ortholog); positive regulation of vitamin D receptor signaling pathway (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); atrial heart septal defect (ortholog); CEBALID Syndrome (ortholo g); FOUND IN nucleus (ortholog) | NW_004955455 | 2130104 | 2171868 | Chinchilla | 17 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 11921015 | MN1 | MN1 proto-oncogene, transcriptional regulator | INVOLVED IN intramembranous ossification (ortholog); negative regulation of osteoblast proliferation (ortholog); positive regulation of vitamin D receptor signaling pathway (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); atrial heart septal defect (ortholog); CEBALID Syndrome (ortholo g); FOUND IN nucleus (ortholog) | 22 | 8799832 | 8854695 | Bonobo | 17 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12278865 | MN1 | MN1 proto-oncogene, transcriptional regulator | INVOLVED IN intramembranous ossification (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); atrial heart septal defect (ortholog); CEBALID Syndrome (ortholog); FOUND IN nucleus (inferred) | 26 | 21216912 | 21261518 | Dog | 18 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12498676 | Mn1 | MN1 proto-oncogene, transcriptional regulator | INVOLVED IN intramembranous ossification (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); atrial heart septal defect (ortholog); CEBALID Syndrome (ortholog); FOUND IN nucleus (inferred) | NW_004936657 | 2024302 | 2066196 | Squirrel | 18 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 14022625 | MN1 | MN1 proto-oncogene, transcriptional regulator | INVOLVED IN intramembranous ossification (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); atrial heart septal defect (ortholog); CEBALID Syndrome (ortholog); FOUND IN nucleus (inferred) | | | | Pig | 18 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 18445186 | MN1 | MN1 proto-oncogene, transcriptional regulator | INVOLVED IN intramembranous ossification (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); atrial heart septal defect (ortholog); CEBALID Syndrome (ortholog); FOUND IN nucleus (inferred) | | | | Green Monkey | 18 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 18932700 | Mn1 | MN1 proto-oncogene, transcriptional regulator | INVOLVED IN intramembranous ossification (ortholog); negative regulation of osteoblast proliferation (ortholog); positive regulation of vitamin D receptor signaling pathway (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); atrial heart septal defect (ortholog); CEBALID Syndrome (ortholo g); FOUND IN nucleus (ortholog) | | | | Naked Mole-Rat | 18 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 155257313 | mn1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 625930030 | Mn1 | MN1 proto-oncogene, transcriptional regulator | INVOLVED IN intramembranous ossification (ortholog); negative regulation of osteoblast proliferation (ortholog); positive regulation of vitamin D receptor signaling pathway (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); atrial heart septal defect (ortholog); CEBALID Syndrome (ortholo g); FOUND IN nucleus (ortholog) | | | | Black Rat | 17 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 155254214 | mn1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155253988 | mn1.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 730884 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-25 8 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022] | 9 | 133250401 | 133275201 | Human | 100 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 69132 | BRCA1 | BRCA1 DNA repair associated | This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal trans ducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020] | 17 | 43044295 | 43170327 | Human | 9628 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 12313334 | DLA88 | MHC class I DLA-88 | ENCODES a protein that exhibits protein-folding chaperone binding (ortholog); TAP binding (ortholog); INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class Ib (ortholog); protection from natural killer cell mediated cytotoxicity (ortholog); regulation of dendriti c cell differentiation (ortholog); ASSOCIATED WITH Acute Anterior Uveitis (ortholog); acute retinal necrosis syndrome (ortholog); allergic asthma (ortholog); FOUND IN cell surface (ortholog); endoplasmic reticulum (ortholog); Golgi apparatus (ortholog) | 12 | 892442 | 895691 | Dog | 122 | GenBank Nucleotide | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1345114 | DUOX1 | dual oxidase 1 | The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide gen erating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012] | 15 | 45129994 | 45165574 | Human | 179 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731841 | EMP3 | epithelial membrane protein 3 (MAM blood group) | The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicin g results in multiple transcript variants. [provided by RefSeq, Sep 2015] | 19 | 48325552 | 48330553 | Human | 131 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736105 | EPOR | erythropoietin receptor | This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] | 19 | 11377207 | 11384314 | Human | 290 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1605730 | HLA-DPA1 | major histocompatibility complex, class II, DP alpha 1 | HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II m olecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and 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 | 33064569 | 33080748 | Human | 218 | GenBank Nucleotide | 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 Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350485 | HLA-DQA2 | major histocompatibility complex, class II, DQ alpha 2 | This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide bin ding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010] | 6 | 32741391 | 32747198 | Human | 62 | GenBank Nucleotide | 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 Nucleotide | 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 Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350012 | HLA-DRB5 | major histocompatibility complex, class II, DR beta 5 | HLA-DRB5 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] | 6 | 32517353 | 32530287 | Human | 84 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1353823 | HLA-E | major histocompatibility complex, class I, E | HLA-E 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. HLA-E binds a restricted subset of peptides derived from the leader peptides of other cla ss I molecules. 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 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. [provided by RefSeq, Jul 2008] | 6 | 30489509 | 30494194 | Human | 237 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1354436 | IGKV2-29 | immunoglobulin kappa variable 2-29 | Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 89234185 | 89234911 | Human | 12 | GenBank Nucleotide | gene, pseudo, VALIDATED [RefSeq] |
| 1342921 | IGKV2D-26 | immunoglobulin kappa variable 2D-26 | Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 89985952 | 89986704 | Human | 9 | GenBank Nucleotide | gene, pseudo, VALIDATED [RefSeq] |
| 1345868 | IYD | iodotyrosine deiodinase | This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] | 6 | 150369012 | 150405969 | Human | 313 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1351802 | KIR2DL1 | killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 | Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The g ene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] | 19 | 54769793 | 54784322 | Human | 29 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1353116 | KIR2DL4 | killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 | Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The g ene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016] | 19 | 54803610 | 54814517 | Human | 37 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1605452 | KIR2DP1 | killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 | Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 19 | 54754756 | 54767881 | Human | 5 | GenBank Nucleotide | gene, pseudo, VALIDATED [RefSeq] |
| 1344459 | KIR2DS2 | killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 | Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The g ene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] | | | | Human | 19 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735895 | KIR3DL1 | killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 | Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The g ene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] | 19 | 54816468 | 54830778 | Human | 50 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1343393 | KIR3DL2 | killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 | Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The g ene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] | 19 | 54850443 | 54867207 | Human | 24 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1352085 | KIR3DL3 | killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 | Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The g ene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. [provided by RefSeq, Jul 2008] | 19 | 54724442 | 54736632 | Human | 18 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1603443 | KIR3DP1 | killer cell immunoglobulin like receptor, three Ig domains pseudogene 1 | Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The g ene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. This gene is considered to be a pseudogene based on the absence of transcription and it lacks several functional domains compared to other killer cell immunoglobulin-like receptors. A rare haplotype, the result of a recombinantion event, has two copies of this gene, one of which may encode a secreted protein. (PMID: 15580659)[provided by RefSeq, Mar 2011] | 19 | 54786362 | 54790418 | Human | 8 | GenBank Nucleotide | gene, pseudo, REVIEWED [RefSeq] |
| 1550338 | Krt75 | keratin 75 | Predicted to be a structural constituent of skin epidermis. Acts upstream of or within hematopoietic progenitor cell differentiation. Is active in cornified envelope. Is expressed in incisor; larynx; skin; urethra; and ventral grey horn. Orthologous to human KRT75 (keratin 75). [provided by Alliance of Genome Resources, Jul 2025] | 15 | 101471778 | 101482339 | Mouse | 74 | GenBank Nucleotide | gene, protein-coding, PROVISIONAL [RefSeq] |
| 2291953 | Nlgn4l | neuroligin 4-like | Predicted to enable several functions, including chloride ion binding activity; neurexin family protein binding activity; and protein homodimerization activity. Involved in several processes, including brainstem development; social behavior; and territorial aggressive behavior. Located in plasma mem brane and synapse. Is active in glycinergic synapse and postsynaptic specialization membrane. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human NLGN4X (neuroligin 4 X-linked) and NLGN4Y (neuroligin 4 Y-linked). [provided by Alliance of Genome Resources, Jul 2025] | X | 169066267 | 169089058 | Mouse | 47 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1350680 | PBX2 | PBX homeobox 2 | This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene i s located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008] | 6 | 32184733 | 32190202 | Human | 124 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1353723 | PGK1 | phosphoglycerate kinase 1 | The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by f unctioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014] | X | 78104248 | 78129295 | Human | 428 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 619790 | Rag1 | recombination activating 1 | ENCODES a protein that exhibits endonuclease activity (ortholog); histone binding (ortholog); identical protein binding (ortholog); INVOLVED IN regulation of behavioral fear response; visual learning; adaptive immune response (ortholog); PARTICIPATES IN primary immunodeficiency pathway; ASSOCIATED W ITH decreased B cell number; decreased bone marrow cell number; decreased CD4-positive, alpha-beta T cell number; ASSOCIATED WITH Albuminuria; hypertension; Hypertensive Nephropathy; FOUND IN nucleus (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; ammonium chloride; amphetamine | 3 | 108372087 | 108383184 | Rat | 222 | GenBank Nucleotide | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1321983 | SLC26A7 | solute carrier family 26 member 7 | This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript varian ts that encode different isoforms have been described. [provided by RefSeq, Aug 2013] | 8 | 91209496 | 91398155 | Human | 123 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731751 | SLC5A5 | solute carrier family 5 member 5 | This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and te traiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009] | 19 | 17871945 | 17895174 | Human | 327 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350865 | SOX2-OT | SOX2 overlapping transcript | This gene produces alternatively spliced long non-coding RNAs. These RNAs were observed to be upregulated in tumor cells and positively correlated to expression of the SRY-box 2 gene. Overexpression of these transcripts may promote cell proliferation. [provided by RefSeq, Dec 2017] | 3 | 181056680 | 181742228 | Human | 59 | GenBank Nucleotide | gene, ncrna, REVIEWED [RefSeq] |
| 735819 | TG | thyroglobulin | Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009] | 8 | 132866958 | 133134899 | Human | 375 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1313064 | UBAP1 | ubiquitin associated protein 1 | This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] | 9 | 34179005 | 34252523 | Human | 139 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
