psui3905/ncbi_genes_summary huggingface dataset:
MARCKSL1, Official Symbol MARCKSL1provided by HGNC Official Full Name MARCKS like 1provided by HGNC Primary source HGNC:HGNC:7142 See related Ensembl:ENSG00000175130 MIM:602940; AllianceGenome:HGNC:7142 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as F52; MLP; MRP; MLP1; MACMARCKS Summary This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10. [provided by RefSeq, Jun 2012] Expression Broad expression in ovary (RPKM 132.8), brain (RPKM 127.5) and 24 other tissues See more Orthologs mouse all
MARCO, Official Symbol MARCOprovided by HGNC Official Full Name macrophage receptor with collagenous structureprovided by HGNC Primary source HGNC:HGNC:6895 See related Ensembl:ENSG00000019169 MIM:604870; AllianceGenome:HGNC:6895 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SR-A6; SCARA2 Summary The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008] Expression Biased expression in lung (RPKM 74.5), appendix (RPKM 41.8) and 3 other tissues See more Orthologs mouse all
MARCOL, Official Symbol MARCOLprovided by HGNC Official Full Name MARCO likeprovided by HGNC Primary source HGNC:HGNC:53644 See related Ensembl:ENSG00000248109 AllianceGenome:HGNC:53644 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be an extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MARF1, Official Symbol MARF1provided by HGNC Official Full Name meiosis regulator and mRNA stability factor 1provided by HGNC Primary source HGNC:HGNC:29562 See related Ensembl:ENSG00000166783 MIM:614593; AllianceGenome:HGNC:29562 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LKAP; LMKB; PPP1R34; KIAA0430 Summary This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in lymph node (RPKM 15.3), ovary (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
MARK1, Official Symbol MARK1provided by HGNC Official Full Name microtubule affinity regulating kinase 1provided by HGNC Primary source HGNC:HGNC:6896 See related Ensembl:ENSG00000116141 MIM:606511; AllianceGenome:HGNC:6896 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MARK; Par1c; Par-1c Summary Enables several functions, including ATP binding activity; phospholipid binding activity; and protein kinase activity. Involved in intracellular signal transduction and protein phosphorylation. Located in cytoplasm; dendrite; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 4.9), testis (RPKM 3.5) and 21 other tissues See more Orthologs mouse all
MARK2, Official Symbol MARK2provided by HGNC Official Full Name microtubule affinity regulating kinase 2provided by HGNC Primary source HGNC:HGNC:3332 See related Ensembl:ENSG00000072518 MIM:600526; AllianceGenome:HGNC:3332 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EMK1; EMK-1; PAR-1; Par1b; Par-1b Summary This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] Expression Ubiquitous expression in esophagus (RPKM 11.9), colon (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
MARK2P10, Official Symbol MARK2P10provided by HGNC Official Full Name MARK2 pseudogene 10provided by HGNC Primary source HGNC:HGNC:39801 See related Ensembl:ENSG00000227284 AllianceGenome:HGNC:39801 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MARK2P11, Official Symbol MARK2P11provided by HGNC Official Full Name MARK2 pseudogene 11provided by HGNC Primary source HGNC:HGNC:39802 See related Ensembl:ENSG00000253743 AllianceGenome:HGNC:39802 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MARK2P12, Official Symbol MARK2P12provided by HGNC Official Full Name MARK2 pseudogene 12provided by HGNC Primary source HGNC:HGNC:39803 See related Ensembl:ENSG00000229708 AllianceGenome:HGNC:39803 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MARK2P13, Official Symbol MARK2P13provided by HGNC Official Full Name MARK2 pseudogene 13provided by HGNC Primary source HGNC:HGNC:39804 See related Ensembl:ENSG00000228815 AllianceGenome:HGNC:39804 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MARK2P14, Official Symbol MARK2P14provided by HGNC Official Full Name MARK2 pseudogene 14provided by HGNC Primary source HGNC:HGNC:44495 See related Ensembl:ENSG00000231897 AllianceGenome:HGNC:44495 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MARK2P16, Official Symbol MARK2P16provided by HGNC Official Full Name MARK2 pseudogene 16provided by HGNC Primary source HGNC:HGNC:45171 See related AllianceGenome:HGNC:45171 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MARK2P4, Official Symbol MARK2P4provided by HGNC Official Full Name MARK2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39795 See related Ensembl:ENSG00000250372 AllianceGenome:HGNC:39795 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MARK2P5, Official Symbol MARK2P5provided by HGNC Official Full Name MARK2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:39796 See related Ensembl:ENSG00000248834 AllianceGenome:HGNC:39796 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MARK2P6, Official Symbol MARK2P6provided by HGNC Official Full Name MARK2 pseudogene 6provided by HGNC Primary source HGNC:HGNC:39797 See related AllianceGenome:HGNC:39797 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MARK3, Official Symbol MARK3provided by HGNC Official Full Name microtubule affinity regulating kinase 3provided by HGNC Primary source HGNC:HGNC:6897 See related Ensembl:ENSG00000075413 MIM:602678; AllianceGenome:HGNC:6897 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KP78; VIPB; CTAK1; PAR1A; Par-1a Summary The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in bone marrow (RPKM 22.5), testis (RPKM 17.6) and 25 other tissues See more Orthologs mouse all
MARK3P1, Official Symbol MARK3P1provided by HGNC Official Full Name microtubule affinity regulating kinase 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:50312 See related Ensembl:ENSG00000271642 AllianceGenome:HGNC:50312 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MARK4, Official Symbol MARK4provided by HGNC Official Full Name microtubule affinity regulating kinase 4provided by HGNC Primary source HGNC:HGNC:13538 See related Ensembl:ENSG00000007047 MIM:606495; AllianceGenome:HGNC:13538 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MARK4L; MARK4S; MARKL1; PAR-1D; MARKL1L Summary This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] Expression Broad expression in testis (RPKM 14.0), brain (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
MARS1, Official Symbol MARS1provided by HGNC Official Full Name methionyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:6898 See related Ensembl:ENSG00000166986 MIM:156560; AllianceGenome:HGNC:6898 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MRS; ILLD; MARS; TTD9; CMT2U; ILFS2; METRS; MTRNS; SPG70 Summary This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in testis (RPKM 31.8), appendix (RPKM 28.7) and 25 other tissues See more Orthologs mouse all
MARS2, Official Symbol MARS2provided by HGNC Official Full Name methionyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:25133 See related Ensembl:ENSG00000247626 MIM:609728; AllianceGenome:HGNC:25133 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MetRS; COXPD25; mtMetRS Summary This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014] Orthologs mouse all
MARVELD1, Official Symbol MARVELD1provided by HGNC Official Full Name MARVEL domain containing 1provided by HGNC Primary source HGNC:HGNC:28674 See related Ensembl:ENSG00000155254 MIM:616970; AllianceGenome:HGNC:28674 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GB14; MARVD1; MRVLDC1; bA548K23.8 Summary Predicted to be a structural constituent of myelin sheath. Predicted to be involved in myelination. Predicted to be located in several cellular components, including cytoskeleton; nucleus; and plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 25.0), ovary (RPKM 20.1) and 23 other tissues See more Orthologs mouse all
MARVELD2, Official Symbol MARVELD2provided by HGNC Official Full Name MARVEL domain containing 2provided by HGNC Primary source HGNC:HGNC:26401 See related Ensembl:ENSG00000152939 MIM:610572; AllianceGenome:HGNC:26401 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Tric; DFNB49; MARVD2; MRVLDC2 Summary The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Broad expression in thyroid (RPKM 13.9), colon (RPKM 5.1) and 16 other tissues See more Orthologs mouse all
MARVELD3, Official Symbol MARVELD3provided by HGNC Official Full Name MARVEL domain containing 3provided by HGNC Primary source HGNC:HGNC:30525 See related Ensembl:ENSG00000140832 MIM:614094; AllianceGenome:HGNC:30525 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MARVD3; MRVLDC3 Summary Enables mitogen-activated protein kinase kinase kinase binding activity. Involved in bicellular tight junction assembly. Acts upstream of or within several processes, including negative regulation of JNK cascade; negative regulation of epithelial cell migration; and negative regulation of epithelial cell proliferation. Located in bicellular tight junction and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 6.8), colon (RPKM 6.5) and 18 other tissues See more Orthologs mouse all
MAS1, Official Symbol MAS1provided by HGNC Official Full Name MAS1 proto-oncogene, G protein-coupled receptorprovided by HGNC Primary source HGNC:HGNC:6899 See related Ensembl:ENSG00000130368 MIM:165180; AllianceGenome:HGNC:6899 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MAS; MGRA Summary This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012] Orthologs mouse all
MAS1L, Official Symbol MAS1Lprovided by HGNC Official Full Name MAS1 proto-oncogene like, G protein-coupled receptorprovided by HGNC Primary source HGNC:HGNC:13961 See related Ensembl:ENSG00000204687 MIM:607235; AllianceGenome:HGNC:13961 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MRG; MAS-L; dJ994E9.2 Summary Predicted to enable G protein-coupled receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
MASP1, Official Symbol MASP1provided by HGNC Official Full Name MBL associated serine protease 1provided by HGNC Primary source HGNC:HGNC:6901 See related Ensembl:ENSG00000127241 MIM:600521; AllianceGenome:HGNC:6901 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 3MC1; MAP1; MASP; RaRF; CRARF; MAP-1; MASP3; MAp44; PRSS5; CRARF1; MASP-3 Summary This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] Expression Biased expression in liver (RPKM 20.5), endometrium (RPKM 13.2) and 10 other tissues See more Orthologs mouse all
MASP2, Official Symbol MASP2provided by HGNC Official Full Name MBL associated serine protease 2provided by HGNC Primary source HGNC:HGNC:6902 See related Ensembl:ENSG00000009724 MIM:605102; AllianceGenome:HGNC:6902 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as sMAP; MAP-2; MAP19; MASP-2; MASP1P1 Summary This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016] Expression Biased expression in liver (RPKM 26.8), bone marrow (RPKM 2.7) and 7 other tissues See more Orthologs mouse all
MAST1, Official Symbol MAST1provided by HGNC Official Full Name microtubule associated serine/threonine kinase 1provided by HGNC Primary source HGNC:HGNC:19034 See related Ensembl:ENSG00000105613 MIM:612256; AllianceGenome:HGNC:19034 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SAST; MCCCHCM Summary This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017] Expression Biased expression in brain (RPKM 10.3), testis (RPKM 1.3) and 1 other tissue See more Orthologs mouse all
MAST2, Official Symbol MAST2provided by HGNC Official Full Name microtubule associated serine/threonine kinase 2provided by HGNC Primary source HGNC:HGNC:19035 See related Ensembl:ENSG00000086015 MIM:612257; AllianceGenome:HGNC:19035 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MTSSK; MAST205 Summary Enables phosphatase binding activity. Predicted to be involved in several processes, including peptidyl-serine phosphorylation; regulation of interleukin-12 production; and spermatid differentiation. Predicted to be located in cytoplasm and plasma membrane. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 25.4), heart (RPKM 11.8) and 23 other tissues See more Orthologs mouse all
MAST3, Official Symbol MAST3provided by HGNC Official Full Name microtubule associated serine/threonine kinase 3provided by HGNC Primary source HGNC:HGNC:19036 See related Ensembl:ENSG00000099308 MIM:612258; AllianceGenome:HGNC:19036 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEE108 Summary Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cytoskeleton organization; intracellular signal transduction; and peptidyl-serine phosphorylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 16.8), spleen (RPKM 6.6) and 24 other tissues See more Orthologs mouse all
MAST3-AS1, Official Symbol MAST3-AS1provided by HGNC Official Full Name MAST3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55276 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
MAST4, Official Symbol MAST4provided by HGNC Official Full Name microtubule associated serine/threonine kinase family member 4provided by HGNC Primary source HGNC:HGNC:19037 See related Ensembl:ENSG00000069020 MIM:618002; AllianceGenome:HGNC:19037 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in esophagus (RPKM 3.2), fat (RPKM 2.7) and 23 other tissues See more Orthologs mouse all
MASTL, Official Symbol MASTLprovided by HGNC Official Full Name microtubule associated serine/threonine kinase likeprovided by HGNC Primary source HGNC:HGNC:19042 See related Ensembl:ENSG00000120539 MIM:608221; AllianceGenome:HGNC:19042 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GW; GWL; THC2; MAST-L; GREATWALL Summary This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010] Expression Ubiquitous expression in bone marrow (RPKM 4.9), testis (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
MAT1A, Official Symbol MAT1Aprovided by HGNC Official Full Name methionine adenosyltransferase 1Aprovided by HGNC Primary source HGNC:HGNC:6903 See related Ensembl:ENSG00000151224 MIM:610550; AllianceGenome:HGNC:6903 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MAT; SAMS; MATA1; SAMS1 Summary This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 313.0) See more Orthologs mouse all
MAT2A, Official Symbol MAT2Aprovided by HGNC Official Full Name methionine adenosyltransferase 2Aprovided by HGNC Primary source HGNC:HGNC:6904 See related Ensembl:ENSG00000168906 MIM:601468; AllianceGenome:HGNC:6904 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MATA2; MATII; SAMS2 Summary The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in thyroid (RPKM 234.0), adrenal (RPKM 141.3) and 25 other tissues See more Orthologs mouse all
MAT2B, Official Symbol MAT2Bprovided by HGNC Official Full Name methionine adenosyltransferase 2 non-catalytic beta subunitprovided by HGNC Primary source HGNC:HGNC:6905 See related Ensembl:ENSG00000038274 MIM:605527; AllianceGenome:HGNC:6905 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TGR; MAT-II; SDR23E1; MATIIbeta; Nbla02999 Summary The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in lymph node (RPKM 45.7), thyroid (RPKM 43.7) and 25 other tissues See more Orthologs mouse all
MATK, Official Symbol MATKprovided by HGNC Official Full Name megakaryocyte-associated tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:6906 See related Ensembl:ENSG00000007264 MIM:600038; AllianceGenome:HGNC:6906 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CHK; CTK; HYL; Lsk; HYLTK; HHYLTK Summary The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 4.5), bone marrow (RPKM 3.5) and 19 other tissues See more Orthologs mouse all
MATN1, Official Symbol MATN1provided by HGNC Official Full Name matrilin 1provided by HGNC Primary source HGNC:HGNC:6907 See related Ensembl:ENSG00000162510 MIM:115437; AllianceGenome:HGNC:6907 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMP; CRTM Summary This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
MATN1-AS1, Official Symbol MATN1-AS1provided by HGNC Official Full Name MATN1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40364 See related Ensembl:ENSG00000186056 AllianceGenome:HGNC:40364 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in ovary (RPKM 1.7), spleen (RPKM 1.5) and 25 other tissues See more
MATN2, Official Symbol MATN2provided by HGNC Official Full Name matrilin 2provided by HGNC Primary source HGNC:HGNC:6908 See related Ensembl:ENSG00000132561 MIM:602108; AllianceGenome:HGNC:6908 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 133.8), placenta (RPKM 60.9) and 20 other tissues See more Orthologs mouse all
MATN3, Official Symbol MATN3provided by HGNC Official Full Name matrilin 3provided by HGNC Primary source HGNC:HGNC:6909 See related Ensembl:ENSG00000132031 MIM:602109; AllianceGenome:HGNC:6909 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HOA; OS2; EDM5; DIPOA; OADIP; SEMDBCD Summary This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] Expression Biased expression in lung (RPKM 8.3), placenta (RPKM 4.2) and 9 other tissues See more Orthologs mouse all
MATN4, Official Symbol MATN4provided by HGNC Official Full Name matrilin 4provided by HGNC Primary source HGNC:HGNC:6910 See related Ensembl:ENSG00000124159 MIM:603897; AllianceGenome:HGNC:6910 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Biased expression in pancreas (RPKM 6.7), skin (RPKM 0.9) and 2 other tissues See more Orthologs mouse all
MATR3, Official Symbol MATR3provided by HGNC Official Full Name matrin 3provided by HGNC Primary source HGNC:HGNC:6912 See related Ensembl:ENSG00000015479 MIM:164015; AllianceGenome:HGNC:6912 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MPD2; ALS21; VCPDM Summary This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in brain (RPKM 79.2), thyroid (RPKM 60.8) and 25 other tissues See more Orthologs mouse all
MATR3P1, Official Symbol MATR3P1provided by HGNC Official Full Name MATR3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54991 See related AllianceGenome:HGNC:54991 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MAU2, Official Symbol MAU2provided by HGNC Official Full Name MAU2 sister chromatid cohesion factorprovided by HGNC Primary source HGNC:HGNC:29140 See related Ensembl:ENSG00000129933 MIM:614560; AllianceGenome:HGNC:29140 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCC4; MAU2L; mau-2; KIAA0892 Summary Enables protein N-terminus binding activity. Involved in cohesin loading and maintenance of mitotic sister chromatid cohesion. Located in chromatin and nuclear body. Part of Scc2-Scc4 cohesin loading complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 14.5), ovary (RPKM 12.1) and 25 other tissues See more Orthologs mouse all
MAVS, Official Symbol MAVSprovided by HGNC Official Full Name mitochondrial antiviral signaling proteinprovided by HGNC Primary source HGNC:HGNC:29233 See related Ensembl:ENSG00000088888 MIM:609676; AllianceGenome:HGNC:29233 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IPS1; VISA; IPS-1; CARDIF Summary This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral innate immunity. [provided by RefSeq, Jul 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in colon (RPKM 9.9), fat (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
MAX, Official Symbol MAXprovided by HGNC Official Full Name MYC associated factor Xprovided by HGNC Primary source HGNC:HGNC:6913 See related Ensembl:ENSG00000125952 MIM:154950; AllianceGenome:HGNC:6913 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as bHLHd4 Summary The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in spleen (RPKM 18.6), lymph node (RPKM 17.0) and 25 other tissues See more Orthologs mouse all
MAZ, Official Symbol MAZprovided by HGNC Official Full Name MYC associated zinc finger proteinprovided by HGNC Primary source HGNC:HGNC:6914 See related Ensembl:ENSG00000103495 MIM:600999; AllianceGenome:HGNC:6914 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PUR1; ZF87; Pur-1; SAF-1; SAF-2; SAF-3; Zif87; ZNF801 Summary Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including regulation of gene expression; regulation of signal transduction; and transcription by RNA polymerase II. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 38.3), colon (RPKM 34.1) and 25 other tissues See more Orthologs mouse all
MB, Official Symbol MBprovided by HGNC Official Full Name myoglobinprovided by HGNC Primary source HGNC:HGNC:6915 See related Ensembl:ENSG00000198125 MIM:160000; AllianceGenome:HGNC:6915 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MYOSB; PVALB Summary This gene encodes a member of the globin superfamily and is predominantly expressed in skeletal and cardiac muscles. The encoded protein forms a monomeric globular haemoprotein that is primarily responsible for the storage and facilitated transfer of oxygen from the cell membrane to the mitochondria. This protein also plays a role in regulating physiological levels of nitric oxide. Multiple transcript variants encoding distinct isoforms exist for this gene. [provided by RefSeq, May 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis. Expression Restricted expression toward heart (RPKM 2708.0) See more Orthologs mouse all
MB21D2, Official Symbol MB21D2provided by HGNC Official Full Name Mab-21 domain containing 2provided by HGNC Primary source HGNC:HGNC:30438 See related Ensembl:ENSG00000180611 AllianceGenome:HGNC:30438 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as D2A; C3orf59; hMB21D2 Summary Enables cadherin binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 8.0), testis (RPKM 5.3) and 23 other tissues See more Orthologs mouse all
MBD1, Official Symbol MBD1provided by HGNC Official Full Name methyl-CpG binding domain protein 1provided by HGNC Primary source HGNC:HGNC:6916 See related Ensembl:ENSG00000141644 MIM:156535; AllianceGenome:HGNC:6916 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RFT; PCM1; CXXC3 Summary The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011] Expression Ubiquitous expression in testis (RPKM 18.8), bone marrow (RPKM 9.7) and 25 other tissues See more Orthologs mouse all
MBD2, Official Symbol MBD2provided by HGNC Official Full Name methyl-CpG binding domain protein 2provided by HGNC Primary source HGNC:HGNC:6917 See related Ensembl:ENSG00000134046 MIM:603547; AllianceGenome:HGNC:6917 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMTase; NY-CO-41 Summary DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in thyroid (RPKM 19.7), lymph node (RPKM 18.4) and 25 other tissues See more Orthologs mouse all
MBD3, Official Symbol MBD3provided by HGNC Official Full Name methyl-CpG binding domain protein 3provided by HGNC Primary source HGNC:HGNC:6918 See related Ensembl:ENSG00000071655 MIM:603573; AllianceGenome:HGNC:6918 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in placenta (RPKM 23.4), fat (RPKM 18.3) and 25 other tissues See more Orthologs mouse all