| 621165 | Mk1 | Mk1 protein | INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil | 16 | 18814804 | 18817293 | Rat | 15 | symbol , PhenoGen , name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1346938 | KCNA1 | potassium voltage-gated channel subfamily A member 1 | This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD) . The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008] | 12 | 4909905 | 4918256 | Human | 424 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1615982 | Klk1b1 | kallikrein 1-related peptidase b1 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic clea vage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016] | 7 | 43616175 | 43620742 | Mouse | 27 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 62375 | Kcna6 | potassium voltage-gated channel, shaker-related, subfamily, member 6 | Predicted to enable delayed rectifier potassium channel activity. Predicted to be involved in action potential and potassium ion transmembrane transport. Located in axon terminus. Is expressed in several structures, including central nervous system; embryo mesenchyme; hindlimb muscle; neural retina; and trigeminal nerve. Orthologous to human KCNA6 (potassium voltage-gated channel subfamily A member 6). [provided by Alliance of Genome Resources, Jul 2025] | 6 | 126685292 | 126717610 | Mouse | 91 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1618726 | Krt77 | keratin 77 | Predicted to be a structural constituent of skin epidermis. Predicted to be involved in intermediate filament organization and keratinization. Is active in cornified envelope. Is expressed in epidermis; palmar pad; and skin. Orthologous to human KRT77 (keratin 77). [provided by Alliance of Genome Re sources, Jul 2025] | 15 | 101767166 | 101778141 | Mouse | 37 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 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] |
| 1347611 | ACKR1 | atypical chemokine receptor 1 (Duffy blood group) | The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group sys tem. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 1 | 159204875 | 159206500 | Human | 95 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735603 | CD4 | CD4 molecule | This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The CD4 antigen is also a primary receptor for e ntry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020] | 12 | 6789528 | 6820799 | Human | 291 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1320122 | E2F3 | E2F transcription factor 3 | This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes inv olved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] | 6 | 20401879 | 20493714 | Human | 194 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732566 | ERAP1 | endoplasmic reticulum aminopeptidase 1 | The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by in activation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] | 5 | 96760813 | 96935854 | Human | 250 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1345405 | ETV6 | ETS variant transcription factor 6 | This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice sugges t that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008] | 12 | 11649674 | 11895377 | Human | 278 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1312385 | Fank1 | fibronectin type 3 and ankyrin repeat domains 1 | Predicted to be involved in regulation of DNA-templated transcription and regulation of apoptotic process. Located in ciliary basal body. Is active in ciliary base. Is expressed in lung. Orthologous to human FANK1 (fibronectin type III and ankyrin repeat domains 1). [provided by Alliance of Genome R esources, Jul 2025] | 7 | 133378594 | 133483261 | Mouse | 85 | GenBank Nucleotide | gene, protein-coding, VALIDATED [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 | 463 | 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] |
| 1354401 | HLA-DQB2 | major histocompatibility complex, class II, DQ beta 2 | HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010] | 6 | 32756098 | 32763532 | Human | 51 | 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] |
| 1345133 | HLA-F | major histocompatibility complex, class I, F | This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic retic ulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008] | 6 | 29723434 | 29738532 | Human | 182 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1319054 | ICAM4 | intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) | This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesio n LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] | 19 | 10286955 | 10288520 | Human | 90 | 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] |
| 401959221 | Mir155hgit | Mir155 host gene intronic transcript | | | | | Mouse | | GenBank Nucleotide | gene, ncrna |
| 1352616 | PACRG | parkin coregulated | This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 6 | 162727132 | 163315500 | Human | 97 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 21410147 | RFX5-AS1 | RFX5 antisense RNA 1 | | 1 | 151347010 | 151347891 | Human | | GenBank Nucleotide | gene, ncrna, VALIDATED [RefSeq] |
| 736735 | RHD | Rh blood group D antigen | The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD p rotein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 1 | 25272486 | 25330445 | Human | 92 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 12341163 | S100A4 | S100 calcium binding protein A4 | ENCODES a protein that exhibits actin binding (ortholog); calcium ion binding (ortholog); calcium-dependent protein binding (ortholog); PARTICIPATES IN calcium/calcium-mediated signaling pathway; ASSOCIATED WITH adult respiratory distress syndrome (ortholog); Colonic Neoplasms (ortholog); intracrani al vasospasm (ortholog); FOUND IN nucleoplasm (ortholog); perinuclear region of cytoplasm (ortholog) | 7 | 43494007 | 43496021 | Dog | 47 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1348846 | SH3TC2 | SH3 domain and tetratricopeptide repeats 2 | This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Mar ie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008] | 5 | 148982150 | 149063062 | Human | 574 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1354455 | SLC14A1 | solute carrier family 14 member 1 (Kidd blood group) | The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009] | 18 | 45724181 | 45752520 | Human | 140 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736439 | SMN1 | survival of motor neuron 1, telomeric | This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the org anization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014] | 5 | 70924941 | 70966375 | Human | 339 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1606833 | SMN2 | survival of motor neuron 2, centromeric | This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the org anization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] | 5 | 70049523 | 70090528 | Human | 148 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1345674 | ZNF384 | zinc finger protein 384 | This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP 7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011] | 12 | 6666477 | 6689572 | Human | 66 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
