psui3905/ncbi_genes_summary huggingface dataset:
MUC7, Official Symbol MUC7provided by HGNC Official Full Name mucin 7, secretedprovided by HGNC Primary source HGNC:HGNC:7518 See related Ensembl:ENSG00000171195 MIM:158375; AllianceGenome:HGNC:7518 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 MG2 Summary This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014] Expression Restricted expression toward salivary gland (RPKM 5748.3) See more Orthologs mouse all
MUCL1, Official Symbol MUCL1provided by HGNC Official Full Name mucin like 1provided by HGNC Primary source HGNC:HGNC:30588 See related Ensembl:ENSG00000172551 MIM:610857; AllianceGenome:HGNC:30588 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 SBEM Summary Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in salivary gland (RPKM 37.1), skin (RPKM 4.7) and 1 other tissue See more Orthologs all
MUCL3, Official Symbol MUCL3provided by HGNC Official Full Name mucin like 3provided by HGNC Primary source HGNC:HGNC:21666 See related Ensembl:ENSG00000168631 MIM:613928; AllianceGenome:HGNC:21666 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 PBLT; DPCR1; C6orf37 Summary Predicted to be located in cytoplasm and plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward stomach (RPKM 165.4) See more Orthologs mouse all
MUL1, Official Symbol MUL1provided by HGNC Official Full Name mitochondrial E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:25762 See related Ensembl:ENSG00000090432 MIM:612037; AllianceGenome:HGNC:25762 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 GIDE; MAPL; MULAN; RNF218; C1orf166 Summary Enables several functions, including p53 binding activity; ubiquitin protein ligase binding activity; and ubiquitin-like protein transferase activity. Involved in several processes, including negative regulation of defense response; positive regulation of cellular protein metabolic process; and regulation of mitochondrion organization. Located in several cellular components, including mitochondrion; neuronal cell body; and peroxisome. Is integral component of mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 8.0), heart (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
MUPP, Official Symbol MUPPprovided by HGNC Official Full Name major urinary protein, pseudogeneprovided by HGNC Primary source HGNC:HGNC:49202 See related Ensembl:ENSG00000237906 AllianceGenome:HGNC:49202 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 MUP
MUS81, Official Symbol MUS81provided by HGNC Official Full Name MUS81 structure-specific endonuclease subunitprovided by HGNC Primary source HGNC:HGNC:29814 See related Ensembl:ENSG00000172732 MIM:606591; AllianceGenome:HGNC:29814 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 SLX3 Summary This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017] Expression Ubiquitous expression in spleen (RPKM 12.7), endometrium (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
MUSK, Official Symbol MUSKprovided by HGNC Official Full Name muscle associated receptor tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:7525 See related Ensembl:ENSG00000030304 MIM:601296; AllianceGenome:HGNC:7525 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 CMS9; FADS; FADS1 Summary This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
MUSTN1, Official Symbol MUSTN1provided by HGNC Official Full Name musculoskeletal, embryonic nuclear protein 1provided by HGNC Primary source HGNC:HGNC:22144 See related Ensembl:ENSG00000272573 MIM:617195; AllianceGenome:HGNC:22144 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 MUSTANG Summary Predicted to be involved in several processes, including chondrocyte differentiation; chondrocyte proliferation; and embryonic limb morphogenesis. Predicted to act upstream of or within positive regulation of chondrocyte differentiation; positive regulation of chondrocyte proliferation; and positive regulation of macromolecule metabolic process. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 20.1), fat (RPKM 15.3) and 23 other tissues See more Orthologs mouse all
MUTYH, Official Symbol MUTYHprovided by HGNC Official Full Name mutY DNA glycosylaseprovided by HGNC Primary source HGNC:HGNC:7527 See related Ensembl:ENSG00000132781 MIM:604933; AllianceGenome:HGNC:7527 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 MYH Summary This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in spleen (RPKM 3.1), thyroid (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
MVB12A, Official Symbol MVB12Aprovided by HGNC Official Full Name multivesicular body subunit 12Aprovided by HGNC Primary source HGNC:HGNC:25153 See related Ensembl:ENSG00000141971 AllianceGenome:HGNC:25153 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 CFBP; FAM125A Summary Enables lipid binding activity and ubiquitin binding activity. Involved in regulation of epidermal growth factor receptor signaling pathway; viral budding; and virus maturation. Located in several cellular components, including Golgi apparatus; centrosome; and nucleoplasm. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 33.5), adrenal (RPKM 16.5) and 24 other tissues See more Orthologs mouse all
MVB12B, Official Symbol MVB12Bprovided by HGNC Official Full Name multivesicular body subunit 12Bprovided by HGNC Primary source HGNC:HGNC:23368 See related Ensembl:ENSG00000196814 AllianceGenome:HGNC:23368 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 C9orf28; FAM125B Summary The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Expression Broad expression in brain (RPKM 8.1), lung (RPKM 5.2) and 23 other tissues See more Orthologs mouse all
MVD, Official Symbol MVDprovided by HGNC Official Full Name mevalonate diphosphate decarboxylaseprovided by HGNC Primary source HGNC:HGNC:7529 See related Ensembl:ENSG00000167508 MIM:603236; AllianceGenome:HGNC:7529 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 MPD; MDDase; POROK7; FP17780 Summary The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 12.6), duodenum (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
MVK, Official Symbol MVKprovided by HGNC Official Full Name mevalonate kinaseprovided by HGNC Primary source HGNC:HGNC:7530 See related Ensembl:ENSG00000110921 MIM:251170; AllianceGenome:HGNC:7530 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 MK; LRBP; MVLK; POROK3 Summary This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in testis (RPKM 9.3), liver (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
MVP, Official Symbol MVPprovided by HGNC Official Full Name major vault proteinprovided by HGNC Primary source HGNC:HGNC:7531 See related Ensembl:ENSG00000013364 MIM:605088; AllianceGenome:HGNC:7531 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 LRP; VAULT1 Summary This gene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a role in multiple cellular processes by regulating the MAP kinase, JAK/STAT and phosphoinositide 3-kinase/Akt signaling pathways. The encoded protein also plays a role in multidrug resistance, and expression of this gene may be a prognostic marker for several types of cancer. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in colon (RPKM 85.5), small intestine (RPKM 74.9) and 25 other tissues See more Orthologs mouse all
MX1, Official Symbol MX1provided by HGNC Official Full Name MX dynamin like GTPase 1provided by HGNC Primary source HGNC:HGNC:7532 See related Ensembl:ENSG00000157601 MIM:147150; AllianceGenome:HGNC:7532 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 MX; MxA; IFI78; IFI-78K; lncMX1-215 Summary This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that participates in the cellular antiviral response. The encoded protein is induced by type I and type II interferons and antagonizes the replication process of several different RNA and DNA viruses. There is a related gene located adjacent to this gene on chromosome 21, and there are multiple pseudogenes located in a cluster on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in spleen (RPKM 25.6), salivary gland (RPKM 13.5) and 24 other tissues See more Orthologs mouse all
MX2, Official Symbol MX2provided by HGNC Official Full Name MX dynamin like GTPase 2provided by HGNC Primary source HGNC:HGNC:7533 See related Ensembl:ENSG00000183486 MIM:147890; AllianceGenome:HGNC:7533 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 MXB Summary The protein encoded by this gene has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases. The nuclear form is localized in a granular pattern in the heterochromatin region beneath the nuclear envelope. A nuclear localization signal (NLS) is present at the amino terminal end of the nuclear form but is lacking in the cytoplasmic form due to use of an alternate translation start codon. This protein is upregulated by interferon-alpha but does not contain the antiviral activity of a similar myxovirus resistance protein 1. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 16.5), appendix (RPKM 13.6) and 23 other tissues See more Orthologs all
MXD1, Official Symbol MXD1provided by HGNC Official Full Name MAX dimerization protein 1provided by HGNC Primary source HGNC:HGNC:6761 See related Ensembl:ENSG00000059728 MIM:600021; AllianceGenome:HGNC:6761 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 MAD; MAD1; BHLHC58 Summary This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] Expression Broad expression in bone marrow (RPKM 58.4), esophagus (RPKM 54.2) and 16 other tissues See more Orthologs mouse all
MXD3, Official Symbol MXD3provided by HGNC Official Full Name MAX dimerization protein 3provided by HGNC Primary source HGNC:HGNC:14008 See related Ensembl:ENSG00000213347 MIM:609450; AllianceGenome:HGNC:14008 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 MYX; MAD3; BHLHC13 Summary This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008] Expression Ubiquitous expression in small intestine (RPKM 15.2), colon (RPKM 14.3) and 25 other tissues See more Orthologs mouse all
MXD4, Official Symbol MXD4provided by HGNC Official Full Name MAX dimerization protein 4provided by HGNC Primary source HGNC:HGNC:13906 See related Ensembl:ENSG00000123933 MIM:620016; AllianceGenome:HGNC:13906 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 MAD4; MST149; MSTP149; bHLHc12 Summary This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 22.9), spleen (RPKM 18.5) and 25 other tissues See more Orthologs mouse all
MXI1, Official Symbol MXI1provided by HGNC Official Full Name MAX interactor 1, dimerization proteinprovided by HGNC Primary source HGNC:HGNC:7534 See related Ensembl:ENSG00000119950 MIM:600020; AllianceGenome:HGNC:7534 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 MXI; MAD2; MXD2; bHLHc11 Summary Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 23.6), brain (RPKM 22.2) and 25 other tissues See more Orthologs mouse all
MXRA5, Official Symbol MXRA5provided by HGNC Official Full Name matrix remodeling associated 5provided by HGNC Primary source HGNC:HGNC:7539 See related Ensembl:ENSG00000101825 MIM:300938; AllianceGenome:HGNC:7539 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 one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in skin (RPKM 16.1), urinary bladder (RPKM 11.0) and 22 other tissues See more Orthologs all
MXRA5Y, Official Symbol MXRA5Yprovided by HGNC Official Full Name matrix remodeling associated 5 Y-linked (pseudogene)provided by HGNC Primary source HGNC:HGNC:23932 See related Ensembl:ENSG00000235649 AllianceGenome:HGNC:23932 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 MXRA5P; MXRA5P1; ADLICANP
MXRA7, Official Symbol MXRA7provided by HGNC Official Full Name matrix remodeling associated 7provided by HGNC Primary source HGNC:HGNC:7541 See related Ensembl:ENSG00000182534 AllianceGenome:HGNC:7541 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 Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in heart (RPKM 51.6), thyroid (RPKM 40.4) and 22 other tissues See more Orthologs mouse all
MXRA8, Official Symbol MXRA8provided by HGNC Official Full Name matrix remodeling associated 8provided by HGNC Primary source HGNC:HGNC:7542 See related Ensembl:ENSG00000162576 MIM:617293; AllianceGenome:HGNC:7542 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 ASP3 Summary Predicted to be involved in establishment of glial blood-brain barrier. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 26.7), fat (RPKM 25.8) and 22 other tissues See more Orthologs mouse all
MYADM, Official Symbol MYADMprovided by HGNC Official Full Name myeloid associated differentiation markerprovided by HGNC Primary source HGNC:HGNC:7544 See related Ensembl:ENSG00000179820 MIM:609959; AllianceGenome:HGNC:7544 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 SB135 Summary Involved in several processes, including negative regulation of heterotypic cell-cell adhesion; negative regulation of macromolecule metabolic process; and negative regulation of protein kinase C signaling. Located in several cellular components, including cortical actin cytoskeleton; membrane raft; and ruffle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 50.4), gall bladder (RPKM 50.0) and 25 other tissues See more Orthologs mouse all
MYADML, Official Symbol MYADMLprovided by HGNC Official Full Name myeloid associated differentiation marker like (pseudogene)provided by HGNC Primary source HGNC:HGNC:31019 See related Ensembl:ENSG00000239649 AllianceGenome:HGNC:31019 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MYADML2, Official Symbol MYADML2provided by HGNC Official Full Name myeloid associated differentiation marker like 2provided by HGNC Primary source HGNC:HGNC:34548 See related Ensembl:ENSG00000185105 AllianceGenome:HGNC:34548 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 Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MYB, Official Symbol MYBprovided by HGNC Official Full Name MYB proto-oncogene, transcription factorprovided by HGNC Primary source HGNC:HGNC:7545 See related Ensembl:ENSG00000118513 MIM:189990; AllianceGenome:HGNC:7545 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 efg; Cmyb; c-myb; c-myb_CDS Summary This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Biased expression in bone marrow (RPKM 21.6), colon (RPKM 12.6) and 7 other tissues See more Orthologs mouse all
MYBBP1A, Official Symbol MYBBP1Aprovided by HGNC Official Full Name MYB binding protein 1aprovided by HGNC Primary source HGNC:HGNC:7546 See related Ensembl:ENSG00000132382 MIM:604885; AllianceGenome:HGNC:7546 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 P160; PAP2; Pol5 Summary This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in skin (RPKM 11.1), spleen (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
MYBL1, Official Symbol MYBL1provided by HGNC Official Full Name MYB proto-oncogene like 1provided by HGNC Primary source HGNC:HGNC:7547 See related Ensembl:ENSG00000185697 MIM:159405; AllianceGenome:HGNC:7547 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 AMYB; A-MYB Summary Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 9.0), testis (RPKM 6.1) and 15 other tissues See more Orthologs mouse all
MYBL2, Official Symbol MYBL2provided by HGNC Official Full Name MYB proto-oncogene like 2provided by HGNC Primary source HGNC:HGNC:7548 See related Ensembl:ENSG00000101057 MIM:601415; AllianceGenome:HGNC:7548 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 BMYB; B-MYB Summary The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] Expression Biased expression in bone marrow (RPKM 29.8), lymph node (RPKM 25.5) and 11 other tissues See more Orthologs mouse all
MYBPC1, Official Symbol MYBPC1provided by HGNC Official Full Name myosin binding protein C1provided by HGNC Primary source HGNC:HGNC:7549 See related Ensembl:ENSG00000196091 MIM:160794; AllianceGenome:HGNC:7549 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 LCCS4; CMYP16; MYBPCC; MYBPCS; MYOTREM; ssMyBP-C Summary This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Biased expression in prostate (RPKM 75.7), esophagus (RPKM 49.2) and 1 other tissue See more Orthologs mouse all
MYBPC2, Official Symbol MYBPC2provided by HGNC Official Full Name myosin binding protein C2provided by HGNC Primary source HGNC:HGNC:7550 See related Ensembl:ENSG00000086967 MIM:160793; AllianceGenome:HGNC:7550 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 MYBPC; MYBPCF; fsMyBP-C Summary This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012] Expression Biased expression in prostate (RPKM 9.2), esophagus (RPKM 2.3) and 2 other tissues See more Orthologs mouse all
MYBPC3, Official Symbol MYBPC3provided by HGNC Official Full Name myosin binding protein C3provided by HGNC Primary source HGNC:HGNC:7551 See related Ensembl:ENSG00000134571 MIM:600958; AllianceGenome:HGNC:7551 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 FHC; CMH4; CMD1MM; LVNC10; MYBP-C; cMyBP-C Summary MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022] Expression Restricted expression toward heart (RPKM 426.0) See more Orthologs mouse all
MYBPH, Official Symbol MYBPHprovided by HGNC Official Full Name myosin binding protein Hprovided by HGNC Primary source HGNC:HGNC:7552 See related Ensembl:ENSG00000133055 MIM:160795; AllianceGenome:HGNC:7552 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 a structural constituent of muscle. Predicted to be involved in regulation of striated muscle contraction. Predicted to be located in myosin filament. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 3.0), kidney (RPKM 0.5) and 4 other tissues See more Orthologs mouse all
MYBPHL, Official Symbol MYBPHLprovided by HGNC Official Full Name myosin binding protein H likeprovided by HGNC Primary source HGNC:HGNC:30434 See related Ensembl:ENSG00000221986 MIM:619807; AllianceGenome:HGNC:30434 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 with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Expression Restricted expression toward heart (RPKM 11.5) See more Orthologs mouse all
MYC, Official Symbol MYCprovided by HGNC Official Full Name MYC proto-oncogene, bHLH transcription factorprovided by HGNC Primary source HGNC:HGNC:7553 See related Ensembl:ENSG00000136997 MIM:190080; AllianceGenome:HGNC:7553 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 MRTL; MYCC; c-Myc; bHLHe39 Summary This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in gall bladder (RPKM 49.6), esophagus (RPKM 44.6) and 25 other tissues See more Orthologs mouse all
MYCBP, Official Symbol MYCBPprovided by HGNC Official Full Name MYC binding proteinprovided by HGNC Primary source HGNC:HGNC:7554 See related Ensembl:ENSG00000214114 MIM:606535; AllianceGenome:HGNC:7554 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 AMY-1 Summary The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in testis (RPKM 11.1), colon (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
MYCBP2, Official Symbol MYCBP2provided by HGNC Official Full Name MYC binding protein 2provided by HGNC Primary source HGNC:HGNC:23386 See related Ensembl:ENSG00000005810 MIM:610392; AllianceGenome:HGNC:23386 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 PAM; Phr; PHR1; Myc-bp2 Summary This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in skin (RPKM 12.3), brain (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
MYCBP2-AS1, Official Symbol MYCBP2-AS1provided by HGNC Official Full Name MYCBP2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41023 See related Ensembl:ENSG00000236051 AllianceGenome:HGNC:41023 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 skin (RPKM 9.3), brain (RPKM 9.3) and 25 other tissues See more
MYCBP2-AS2, Official Symbol MYCBP2-AS2provided by HGNC Official Full Name MYCBP2 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:41024 See related Ensembl:ENSG00000229521 AllianceGenome:HGNC:41024 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MYCBPAP, Official Symbol MYCBPAPprovided by HGNC Official Full Name MYCBP associated proteinprovided by HGNC Primary source HGNC:HGNC:19677 See related Ensembl:ENSG00000136449 MIM:609835; AllianceGenome:HGNC:19677 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 AMAP1; AMAP-1 Summary Involved in spermatogenesis. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 33.9) See more Orthologs mouse all
MYCL, Official Symbol MYCLprovided by HGNC Official Full Name MYCL proto-oncogene, bHLH transcription factorprovided by HGNC Primary source HGNC:HGNC:7555 See related Ensembl:ENSG00000116990 MIM:164850; AllianceGenome:HGNC:7555 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 LMYC; L-Myc; MYCL1; bHLHe38 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of inner ear auditory receptor cell differentiation. Located in chromosome and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 18.4), pancreas (RPKM 11.3) and 17 other tissues See more Orthologs mouse all
MYCL-AS1, Official Symbol MYCL-AS1provided by HGNC Official Full Name MYCL antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40386 See related AllianceGenome:HGNC:40386 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 Broad expression in skin (RPKM 47.8), pancreas (RPKM 36.1) and 18 other tissues See more
MYCLP2, Official Symbol MYCLP2provided by HGNC Official Full Name MYCL pseudogene 2provided by HGNC Primary source HGNC:HGNC:48924 See related AllianceGenome:HGNC:48924 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MYCN, Official Symbol MYCNprovided by HGNC Official Full Name MYCN proto-oncogene, bHLH transcription factorprovided by HGNC Primary source HGNC:HGNC:7559 See related Ensembl:ENSG00000134323 MIM:164840; AllianceGenome:HGNC:7559 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 NMYC; ODED; MODED; N-myc; bHLHe37; MYCNsORF; MYCNsPEP Summary This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] Expression Broad expression in placenta (RPKM 4.0), ovary (RPKM 2.1) and 14 other tissues See more Orthologs mouse all
MYCNOS, Official Symbol MYCNOSprovided by HGNC Official Full Name MYCN opposite strandprovided by HGNC Primary source HGNC:HGNC:16911 See related Ensembl:ENSG00000233718 MIM:605374; AllianceGenome:HGNC:16911 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 NCYM; NYCM; N-CYM; MYCN-AS1 Summary This gene is transcribed in antisense to the v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog gene (MYCN). It is thought to encode a small, novel protein that stabilizes MYCN, prevents apoptosis, and promotes cell proliferation. Transcripts at this locus may also act directly as functional RNAs to recruit transcriptional regulators to the promoter of MYCN and stimulate transcription of this oncogene. This gene therefore functions through both RNA and protein products. [provided by RefSeq, Aug 2016] Expression Low expression observed in reference dataset See more Orthologs all
MYCNUT, Official Symbol MYCNUTprovided by HGNC Official Full Name MYCN upstream transcriptprovided by HGNC Primary source HGNC:HGNC:32684 See related Ensembl:ENSG00000223850 MIM:615968; AllianceGenome:HGNC:32684 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 MYCNUN; lncUSMycN Expression Low expression observed in reference dataset See more
MYCT1, Official Symbol MYCT1provided by HGNC Official Full Name MYC target 1provided by HGNC Primary source HGNC:HGNC:23172 See related Ensembl:ENSG00000120279 MIM:616805; AllianceGenome:HGNC:23172 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 MTLC Summary Predicted to act upstream of or within hematopoietic stem cell homeostasis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 14.8), fat (RPKM 8.8) and 22 other tissues See more Orthologs mouse all
MYD88, Official Symbol MYD88provided by HGNC Official Full Name MYD88 innate immune signal transduction adaptorprovided by HGNC Primary source HGNC:HGNC:7562 See related Ensembl:ENSG00000172936 MIM:602170; AllianceGenome:HGNC:7562 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 WM1; IMD68; MYD88D Summary This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] Expression Ubiquitous expression in appendix (RPKM 32.5), bone marrow (RPKM 32.2) and 25 other tissues See more Orthologs mouse all
MYDGF, Official Symbol MYDGFprovided by HGNC Official Full Name myeloid derived growth factorprovided by HGNC Primary source HGNC:HGNC:16948 See related Ensembl:ENSG00000074842 MIM:606746; AllianceGenome:HGNC:16948 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 IL25; IL27; SF20; IL27w; C19orf10; R33729_1; EUROIMAGE1875335 Summary The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 37.2), prostate (RPKM 33.6) and 25 other tissues See more Orthologs mouse all