psui3905/ncbi_genes_summary huggingface dataset:
MS4A1, Official Symbol MS4A1provided by HGNC Official Full Name membrane spanning 4-domains A1provided by HGNC Primary source HGNC:HGNC:7315 See related Ensembl:ENSG00000156738 MIM:112210; AllianceGenome:HGNC:7315 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 B1; S7; Bp35; CD20; FMC7; CVID5; LEU-16 Summary This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 206.7), spleen (RPKM 109.2) and 2 other tissues See more Orthologs mouse all
MS4A10, Official Symbol MS4A10provided by HGNC Official Full Name membrane spanning 4-domains A10provided by HGNC Primary source HGNC:HGNC:13368 See related Ensembl:ENSG00000172689 MIM:608403; AllianceGenome:HGNC:13368 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 MS4A9; CD20L7 Summary Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004] Expression Biased expression in small intestine (RPKM 35.3) and duodenum (RPKM 30.3) See more Orthologs mouse all
MS4A12, Official Symbol MS4A12provided by HGNC Official Full Name membrane spanning 4-domains A12provided by HGNC Primary source HGNC:HGNC:13370 See related Ensembl:ENSG00000071203 MIM:606550; AllianceGenome:HGNC:13370 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 Ms4a10 Summary The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] Expression Restricted expression toward colon (RPKM 119.7) See more Orthologs mouse all
MS4A13, Official Symbol MS4A13provided by HGNC Official Full Name membrane spanning 4-domains A13provided by HGNC Primary source HGNC:HGNC:16674 See related Ensembl:ENSG00000204979 AllianceGenome:HGNC:16674 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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 1.1) See more Orthologs mouse all
MS4A14, Official Symbol MS4A14provided by HGNC Official Full Name membrane spanning 4-domains A14provided by HGNC Primary source HGNC:HGNC:30706 See related Ensembl:ENSG00000166928 AllianceGenome:HGNC:30706 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 MS4A16; NYD-SP21 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Biased expression in testis (RPKM 42.8), lung (RPKM 3.7) and 1 other tissue See more Orthologs mouse all
MS4A15, Official Symbol MS4A15provided by HGNC Official Full Name membrane spanning 4-domains A15provided by HGNC Primary source HGNC:HGNC:28573 See related Ensembl:ENSG00000166961 AllianceGenome:HGNC:28573 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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward lung (RPKM 22.2) See more Orthologs mouse all
MS4A18, Official Symbol MS4A18provided by HGNC Official Full Name membrane spanning 4-domains A18provided by HGNC Primary source HGNC:HGNC:37636 See related Ensembl:ENSG00000214782 AllianceGenome:HGNC:37636 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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 4.4) and small intestine (RPKM 0.9) See more Orthologs mouse all
MS4A19P, Official Symbol MS4A19Pprovided by HGNC Official Full Name membrane spanning 4-domains A19, pseudogeneprovided by HGNC Primary source HGNC:HGNC:53877 See related Ensembl:ENSG00000283601 AllianceGenome:HGNC:53877 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MS4A2, Official Symbol MS4A2provided by HGNC Official Full Name membrane spanning 4-domains A2provided by HGNC Primary source HGNC:HGNC:7316 See related Ensembl:ENSG00000149534 MIM:147138; AllianceGenome:HGNC:7316 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 APY; IGEL; IGER; ATOPY; FCERI; IGHER; FCER1B Summary The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012] Expression Biased expression in lung (RPKM 8.1), gall bladder (RPKM 5.4) and 13 other tissues See more Orthologs mouse all
MS4A3, Official Symbol MS4A3provided by HGNC Official Full Name membrane spanning 4-domains A3provided by HGNC Primary source HGNC:HGNC:7317 See related Ensembl:ENSG00000149516 MIM:606498; AllianceGenome:HGNC:7317 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 HTM4; CD20L Summary This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] Expression Restricted expression toward bone marrow (RPKM 168.2) See more Orthologs all
MS4A4A, Official Symbol MS4A4Aprovided by HGNC Official Full Name membrane spanning 4-domains A4Aprovided by HGNC Primary source HGNC:HGNC:13371 See related Ensembl:ENSG00000110079 MIM:606547; AllianceGenome:HGNC:13371 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 MS4A4; MS4A7; 4SPAN1; CD20L1; CD20-L1; HDCME31P Summary This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Expression Broad expression in placenta (RPKM 28.4), gall bladder (RPKM 18.9) and 20 other tissues See more Orthologs mouse all
MS4A4E, Official Symbol MS4A4Eprovided by HGNC Official Full Name membrane spanning 4-domains A4Eprovided by HGNC Primary source HGNC:HGNC:14284 See related Ensembl:ENSG00000214787 MIM:608401; AllianceGenome:HGNC:14284 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 Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004] Expression Low expression observed in reference dataset See more Orthologs all
MS4A5, Official Symbol MS4A5provided by HGNC Official Full Name membrane spanning 4-domains A5provided by HGNC Primary source HGNC:HGNC:13374 See related Ensembl:ENSG00000166930 MIM:606499; AllianceGenome:HGNC:13374 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 TETM4; CD20L2; CD20-L2 Summary This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 16.2) See more Orthologs mouse all
MS4A6A, Official Symbol MS4A6Aprovided by HGNC Official Full Name membrane spanning 4-domains A6Aprovided by HGNC Primary source HGNC:HGNC:13375 See related Ensembl:ENSG00000110077 MIM:606548; AllianceGenome:HGNC:13375 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 CDA01; MS4A6; 4SPAN3; CD20L3; MST090; MSTP090; 4SPAN3.2 Summary This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011] Expression Broad expression in lymph node (RPKM 27.7), spleen (RPKM 26.2) and 22 other tissues See more Orthologs all
MS4A6E, Official Symbol MS4A6Eprovided by HGNC Official Full Name membrane spanning 4-domains A6Eprovided by HGNC Primary source HGNC:HGNC:14285 See related Ensembl:ENSG00000166926 MIM:608402; AllianceGenome:HGNC:14285 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 membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 32.3) See more Orthologs all
MS4A7, Official Symbol MS4A7provided by HGNC Official Full Name membrane spanning 4-domains A7provided by HGNC Primary source HGNC:HGNC:13378 See related Ensembl:ENSG00000166927 MIM:606502; AllianceGenome:HGNC:13378 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 CFFM4; MS4A8; 4SPAN2; CD20L4 Summary This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 76.0), lung (RPKM 24.9) and 15 other tissues See more Orthologs mouse all
MS4A8, Official Symbol MS4A8provided by HGNC Official Full Name membrane spanning 4-domains A8provided by HGNC Primary source HGNC:HGNC:13380 See related Ensembl:ENSG00000166959 MIM:606549; AllianceGenome:HGNC:13380 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 MS4A4; 4SPAN4; CD20L5; MS4A8B Summary This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008] Expression Biased expression in small intestine (RPKM 85.3), duodenum (RPKM 75.4) and 4 other tissues See more Orthologs mouse all
MSANTD1, Official Symbol MSANTD1provided by HGNC Official Full Name Myb/SANT DNA binding domain containing 1provided by HGNC Primary source HGNC:HGNC:33741 See related Ensembl:ENSG00000188981 AllianceGenome:HGNC:33741 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 C4orf44 Summary Predicted to be involved in positive regulation of transcription, DNA-templated. Predicted to be active in nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 2.6), testis (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
MSANTD2, Official Symbol MSANTD2provided by HGNC Official Full Name Myb/SANT DNA binding domain containing 2provided by HGNC Primary source HGNC:HGNC:26266 See related Ensembl:ENSG00000120458 AllianceGenome:HGNC:26266 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 C11orf61 Expression Ubiquitous expression in thyroid (RPKM 1.6), endometrium (RPKM 1.2) and 25 other tissues See more Orthologs mouse all
MSANTD2P1, Official Symbol MSANTD2P1provided by HGNC Official Full Name Myb/SANT DNA binding domain containing 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39637 See related Ensembl:ENSG00000231058 AllianceGenome:HGNC:39637 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MSANTD3, Official Symbol MSANTD3provided by HGNC Official Full Name Myb/SANT DNA binding domain containing 3provided by HGNC Primary source HGNC:HGNC:23370 See related Ensembl:ENSG00000066697 AllianceGenome:HGNC:23370 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 L8; C9orf30 Expression Ubiquitous expression in gall bladder (RPKM 7.2), thyroid (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
MSANTD3-TMEFF1, Official Symbol MSANTD3-TMEFF1provided by HGNC Official Full Name MSANTD3-TMEFF1 readthroughprovided by HGNC Primary source HGNC:HGNC:38838 See related AllianceGenome:HGNC:38838 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 TR-1; H7365; C9orf2; TMEFF1; C9orf3-TMEFF1; C9orf30-TMEFF1 Summary This locus represents naturally occurring read-through transcription from the neighboring MSANTD3 (Myb/SANT-like DNA-binding domain containing 3) and TMEFF1 (transmembrane protein with EGF-like and two follistatin-like domains 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2013] Expression Broad expression in brain (RPKM 22.5), endometrium (RPKM 5.6) and 19 other tissues See more
MSANTD4, Official Symbol MSANTD4provided by HGNC Official Full Name Myb/SANT DNA binding domain containing 4 with coiled-coilsprovided by HGNC Primary source HGNC:HGNC:29383 See related Ensembl:ENSG00000170903 AllianceGenome:HGNC:29383 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 KIAA1826 Summary Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 8.0), thyroid (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
MSANTD5, Official Symbol MSANTD5provided by HGNC Official Full Name Myb/SANT DNA binding domain containing 5provided by HGNC Primary source HGNC:HGNC:55184 See related Ensembl:ENSG00000285891 AllianceGenome:HGNC:55184 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 Expression Low expression observed in reference dataset See more Orthologs mouse all
MSC, Official Symbol MSCprovided by HGNC Official Full Name musculinprovided by HGNC Primary source HGNC:HGNC:7321 See related Ensembl:ENSG00000178860 MIM:603628; AllianceGenome:HGNC:7321 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 ABF1; MYOR; ABF-1; bHLHa22 Summary The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 12.2), gall bladder (RPKM 7.2) and 23 other tissues See more Orthologs mouse all
MSC-AS1, Official Symbol MSC-AS1provided by HGNC Official Full Name MSC antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48724 See related Ensembl:ENSG00000235531 AllianceGenome:HGNC:48724 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MAT1 Expression Ubiquitous expression in urinary bladder (RPKM 4.5), gall bladder (RPKM 4.1) and 24 other tissues See more
MSGN1, Official Symbol MSGN1provided by HGNC Official Full Name mesogenin 1provided by HGNC Primary source HGNC:HGNC:14907 See related Ensembl:ENSG00000151379 MIM:612209; AllianceGenome:HGNC:14907 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 MSOG; pMsgn1 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in mesoderm formation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within segment specification and somitogenesis. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
MSH2, Official Symbol MSH2provided by HGNC Official Full Name mutS homolog 2provided by HGNC Primary source HGNC:HGNC:7325 See related Ensembl:ENSG00000095002 MIM:609309; AllianceGenome:HGNC:7325 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 FCC1; COCA1; HNPCC; LCFS2; MSH-2; hMSH2; HNPCC1; LYNCH1; MMRCS2 Summary This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in lymph node (RPKM 3.7), testis (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
MSH2-OT1, Official Symbol MSH2-OT1provided by HGNC Official Full Name MSH2 overlapping transcript 1provided by HGNC Primary source HGNC:HGNC:40319 See related Ensembl:ENSG00000235760 AllianceGenome:HGNC:40319 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HCG2040054 Expression Biased expression in testis (RPKM 1.5) and kidney (RPKM 0.1) See more
MSH3, Official Symbol MSH3provided by HGNC Official Full Name mutS homolog 3provided by HGNC Primary source HGNC:HGNC:7326 See related Ensembl:ENSG00000113318 MIM:600887; AllianceGenome:HGNC:7326 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 DUP; FAP4; MRP1 Summary The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in fat (RPKM 8.1), kidney (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
MSH4, Official Symbol MSH4provided by HGNC Official Full Name mutS homolog 4provided by HGNC Primary source HGNC:HGNC:7327 See related Ensembl:ENSG00000057468 MIM:602105; AllianceGenome:HGNC:7327 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 ASG; POF20; SPGF2 Summary This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011] Expression Biased expression in testis (RPKM 2.6) and small intestine (RPKM 0.1) See more Orthologs mouse all
MSH5, Official Symbol MSH5provided by HGNC Official Full Name mutS homolog 5provided by HGNC Primary source HGNC:HGNC:7328 See related Ensembl:ENSG00000204410 MIM:603382; AllianceGenome:HGNC:7328 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 G7; NG23; POF13; MUTSH5; SPGF74 Summary This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011] Expression Broad expression in testis (RPKM 8.9), bone marrow (RPKM 7.5) and 23 other tissues See more Orthologs mouse all
MSH6, Official Symbol MSH6provided by HGNC Official Full Name mutS homolog 6provided by HGNC Primary source HGNC:HGNC:7329 See related Ensembl:ENSG00000116062 MIM:600678; AllianceGenome:HGNC:7329 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 GTBP; HSAP; p160; GTMBP; MSH-6; HNPCC5; LYNCH5; MMRCS3 Summary This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in ovary (RPKM 15.4), testis (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
MSI1, Official Symbol MSI1provided by HGNC Official Full Name musashi RNA binding protein 1provided by HGNC Primary source HGNC:HGNC:7330 See related Ensembl:ENSG00000135097 MIM:603328; AllianceGenome:HGNC:7330 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 protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 2.5), brain (RPKM 2.0) and 14 other tissues See more Orthologs mouse all
MSI2, Official Symbol MSI2provided by HGNC Official Full Name musashi RNA binding protein 2provided by HGNC Primary source HGNC:HGNC:18585 See related Ensembl:ENSG00000153944 MIM:607897; AllianceGenome:HGNC:18585 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 MSI2H Summary This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor prognosis in certain types of cancers. This gene has also been shown to be rearranged in certain cancer cells. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in adrenal (RPKM 11.7), ovary (RPKM 7.0) and 24 other tissues See more Orthologs mouse all
MSL1, Official Symbol MSL1provided by HGNC Official Full Name MSL complex subunit 1provided by HGNC Primary source HGNC:HGNC:27905 See related Ensembl:ENSG00000188895 MIM:614801; AllianceGenome:HGNC:27905 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 MSL-1 Summary Predicted to enable chromatin binding activity. Involved in histone H4-K16 acetylation. Located in nucleoplasm. Part of MSL complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 22.1), brain (RPKM 17.6) and 25 other tissues See more Orthologs mouse all
MSL2, Official Symbol MSL2provided by HGNC Official Full Name MSL complex subunit 2provided by HGNC Primary source HGNC:HGNC:25544 See related Ensembl:ENSG00000174579 MIM:614802; AllianceGenome:HGNC:25544 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 MSL-2; MSL2L1; RNF184 Summary Predicted to enable ubiquitin protein ligase activity. Involved in histone H4-K16 acetylation. Part of MSL complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 16.6), lymph node (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
MSL3, Official Symbol MSL3provided by HGNC Official Full Name MSL complex subunit 3provided by HGNC Primary source HGNC:HGNC:7370 See related Ensembl:ENSG00000005302 MIM:300609; AllianceGenome:HGNC:7370 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 MRSXBA; MRXS36; MRXSBA; MSL3L1 Summary This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in lymph node (RPKM 13.7), appendix (RPKM 11.8) and 24 other tissues See more Orthologs mouse all
MSL3P1, Official Symbol MSL3P1provided by HGNC Official Full Name MSL complex subunit 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:17837 See related Ensembl:ENSG00000224287 AllianceGenome:HGNC:17837 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MSL3L2 Summary Predicted to be involved in heterochromatin assembly and histone modification. Predicted to be part of MSL complex and NuA4 histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 23.6), prostate (RPKM 2.5) and 10 other tissues See more
MSLN, Official Symbol MSLNprovided by HGNC Official Full Name mesothelinprovided by HGNC Primary source HGNC:HGNC:7371 See related Ensembl:ENSG00000102854 MIM:601051; AllianceGenome:HGNC:7371 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 MPF; SMRP Summary This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. 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 lung (RPKM 16.4), stomach (RPKM 4.7) and 7 other tissues See more Orthologs mouse all
MSLNL, Official Symbol MSLNLprovided by HGNC Official Full Name mesothelin likeprovided by HGNC Primary source HGNC:HGNC:14170 See related Ensembl:ENSG00000162006 AllianceGenome:HGNC:14170 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MPFL; C16orf37 Summary Predicted to be involved in cell-matrix adhesion. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
MSMB, Official Symbol MSMBprovided by HGNC Official Full Name microseminoprotein betaprovided by HGNC Primary source HGNC:HGNC:7372 See related Ensembl:ENSG00000263639 MIM:157145; AllianceGenome:HGNC:7372 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 MSP; PSP; IGBF; MSPB; PN44; PRPS; HPC13; PSP57; PSP94; PSP-94 Summary The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female reproductive tissues. The expression of the encoded protein is found to be decreased in prostate cancer. Two alternatively spliced transcript variants encoding different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward prostate (RPKM 2642.5) See more Orthologs mouse all
MSMO1, Official Symbol MSMO1provided by HGNC Official Full Name methylsterol monooxygenase 1provided by HGNC Primary source HGNC:HGNC:10545 See related Ensembl:ENSG00000052802 MIM:607545; AllianceGenome:HGNC:10545 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 DESP4; ERG25; MCCPD; SC4MOL Summary Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 94.8), brain (RPKM 43.2) and 20 other tissues See more Orthologs mouse all
MSMP, Official Symbol MSMPprovided by HGNC Official Full Name microseminoprotein, prostate associatedprovided by HGNC Primary source HGNC:HGNC:29663 See related Ensembl:ENSG00000215183 MIM:612191; AllianceGenome:HGNC:29663 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 PSMP Summary This gene encodes a member of the beta-microseminoprotein family. Members of this protein family contain ten conserved cysteine residues that form intra-molecular disulfide bonds. The encoded protein may play a role in prostate cancer tumorigenesis. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in thyroid (RPKM 19.8), colon (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
MSN, Official Symbol MSNprovided by HGNC Official Full Name moesinprovided by HGNC Primary source HGNC:HGNC:7373 See related Ensembl:ENSG00000147065 MIM:309845; AllianceGenome:HGNC:7373 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 HEL70; IMD50 Summary Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lung (RPKM 147.3), appendix (RPKM 142.6) and 24 other tissues See more Orthologs mouse all
MSR1, Official Symbol MSR1provided by HGNC Official Full Name macrophage scavenger receptor 1provided by HGNC Primary source HGNC:HGNC:7376 See related Ensembl:ENSG00000038945 MIM:153622; AllianceGenome:HGNC:7376 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 SRA; SR-A; CD204; SR-AI; phSR1; phSR2; SCARA1; SR-AII; SR-AIII Summary This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 26.5), gall bladder (RPKM 9.7) and 19 other tissues See more Orthologs mouse all
MSRA, Official Symbol MSRAprovided by HGNC Official Full Name methionine sulfoxide reductase Aprovided by HGNC Primary source HGNC:HGNC:7377 See related Ensembl:ENSG00000175806 MIM:601250; AllianceGenome:HGNC:7377 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 PMSR Summary This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Expression Broad expression in kidney (RPKM 12.0), bone marrow (RPKM 3.1) and 21 other tissues See more Orthologs mouse all
MSRB1, Official Symbol MSRB1provided by HGNC Official Full Name methionine sulfoxide reductase B1provided by HGNC Primary source HGNC:HGNC:14133 See related Ensembl:ENSG00000198736 MIM:606216; AllianceGenome:HGNC:14133 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 SELR; SELX; SepR; SEPX1; HSPC270; SELENOR; SELENOX Summary The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only member of the MsrB family that is a selenoprotein, containing a selenocysteine (Sec) residue at its active site. It also has the highest methionine-R-sulfoxide reductase activity compared to other members containing cysteine in place of Sec. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A pseudogene of this locus has been identified on chromosome 19. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in kidney (RPKM 37.2), liver (RPKM 35.6) and 25 other tissues See more Orthologs mouse all
MSRB2, Official Symbol MSRB2provided by HGNC Official Full Name methionine sulfoxide reductase B2provided by HGNC Primary source HGNC:HGNC:17061 See related Ensembl:ENSG00000148450 MIM:613782; AllianceGenome:HGNC:17061 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 CBS1; MSRB; PILB; CBS-1; CGI-131 Summary Predicted to enable actin binding activity; peptide-methionine (R)-S-oxide reductase activity; and zinc ion binding activity. Predicted to be involved in actin filament polymerization and protein repair. Predicted to be located in mitochondrion. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 17.2), liver (RPKM 8.9) and 24 other tissues See more Orthologs mouse all
MSRB3, Official Symbol MSRB3provided by HGNC Official Full Name methionine sulfoxide reductase B3provided by HGNC Primary source HGNC:HGNC:27375 See related Ensembl:ENSG00000174099 MIM:613719; AllianceGenome:HGNC:27375 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 DFNB74 Summary The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010] Expression Broad expression in endometrium (RPKM 66.2), esophagus (RPKM 57.7) and 22 other tissues See more Orthologs mouse all