psui3905/ncbi_genes_summary huggingface dataset:
MMP26, Official Symbol MMP26provided by HGNC Official Full Name matrix metallopeptidase 26provided by HGNC Primary source HGNC:HGNC:14249 See related Ensembl:ENSG00000167346 MIM:605470; AllianceGenome:HGNC:14249 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 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme may degrade collagen type IV, fibronectin, fibrinogen, and beta-casein, and activate matrix metalloproteinase-9 by cleavage. The protein differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The encoded protein may promote cell invasion in multiple human cancers. [provided by RefSeq, May 2016] Expression Restricted expression toward endometrium (RPKM 7.9) See more Orthologs all
MMP27, Official Symbol MMP27provided by HGNC Official Full Name matrix metallopeptidase 27provided by HGNC Primary source HGNC:HGNC:14250 See related Ensembl:ENSG00000137675 MIM:618101; AllianceGenome:HGNC:14250 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 MMP-27 Summary Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
MMP28, Official Symbol MMP28provided by HGNC Official Full Name matrix metallopeptidase 28provided by HGNC Primary source HGNC:HGNC:14366 See related Ensembl:ENSG00000271447 MIM:608417; AllianceGenome:HGNC:14366 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 MM28; MMP25; MMP-25; MMP-28; EPILYSIN Summary Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] Expression Broad expression in fat (RPKM 8.8), skin (RPKM 8.6) and 18 other tissues See more Orthologs mouse all
MMP3, Official Symbol MMP3provided by HGNC Official Full Name matrix metallopeptidase 3provided by HGNC Primary source HGNC:HGNC:7173 See related Ensembl:ENSG00000149968 MIM:185250; AllianceGenome:HGNC:7173 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 SL-1; STMY; STR1; CHDS6; MMP-3; STMY1 Summary Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] Expression Biased expression in endometrium (RPKM 37.5), appendix (RPKM 12.3) and 1 other tissue See more Orthologs all
MMP7, Official Symbol MMP7provided by HGNC Official Full Name matrix metallopeptidase 7provided by HGNC Primary source HGNC:HGNC:7174 See related Ensembl:ENSG00000137673 MIM:178990; AllianceGenome:HGNC:7174 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 MMP-7; MPSL1; PUMP-1 Summary This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016] Expression Biased expression in gall bladder (RPKM 292.4), endometrium (RPKM 62.1) and 3 other tissues See more Orthologs mouse all
MMP8, Official Symbol MMP8provided by HGNC Official Full Name matrix metallopeptidase 8provided by HGNC Primary source HGNC:HGNC:7175 See related Ensembl:ENSG00000118113 MIM:120355; AllianceGenome:HGNC:7175 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 HNC; CLG1; MMP-8; PMNL-CL Summary This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Proteolysis at different sites on this protein results in multiple active forms of the enzyme with distinct N-termini. This protein functions in the degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Restricted expression toward bone marrow (RPKM 202.1) See more Orthologs mouse all
MMP9, Official Symbol MMP9provided by HGNC Official Full Name matrix metallopeptidase 9provided by HGNC Primary source HGNC:HGNC:7176 See related Ensembl:ENSG00000100985 MIM:120361; AllianceGenome:HGNC:7176 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 GELB; CLG4B; MMP-9; MANDP2 Summary Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 144.9), lymph node (RPKM 49.8) and 3 other tissues See more Orthologs mouse all
MMRN1, Official Symbol MMRN1provided by HGNC Official Full Name multimerin 1provided by HGNC Primary source HGNC:HGNC:7178 See related Ensembl:ENSG00000138722 MIM:601456; AllianceGenome:HGNC:7178 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 ECM; MMRN; GPIa*; EMILIN4 Summary Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 19.8), gall bladder (RPKM 14.4) and 19 other tissues See more Orthologs mouse all
MMRN2, Official Symbol MMRN2provided by HGNC Official Full Name multimerin 2provided by HGNC Primary source HGNC:HGNC:19888 See related Ensembl:ENSG00000173269 MIM:608925; AllianceGenome:HGNC:19888 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 EMILIN3; EMILIN-3; ENDOGLYX-1 Summary This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012] Expression Broad expression in fat (RPKM 74.6), placenta (RPKM 22.4) and 20 other tissues See more Orthologs mouse all
MMS19, Official Symbol MMS19provided by HGNC Official Full Name MMS19 homolog, cytosolic iron-sulfur assembly componentprovided by HGNC Primary source HGNC:HGNC:13824 See related Ensembl:ENSG00000155229 MIM:614777; AllianceGenome:HGNC:13824 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 CIAO4; MET18; MMS19L; hMMS19 Summary Enables estrogen receptor binding activity and transcription coactivator activity. Involved in several processes, including iron-sulfur cluster assembly; positive regulation of nucleobase-containing compound metabolic process; and protein maturation by iron-sulfur cluster transfer. Located in cytosol; nucleoplasm; and spindle. Part of CIA complex and MMXD complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 18.2), skin (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
MMS22L, Official Symbol MMS22Lprovided by HGNC Official Full Name MMS22 like, DNA repair proteinprovided by HGNC Primary source HGNC:HGNC:21475 See related Ensembl:ENSG00000146263 MIM:615614; AllianceGenome:HGNC:21475 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 C6orf167; dJ39B17.2 Summary The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017] Expression Broad expression in testis (RPKM 2.1), bone marrow (RPKM 1.2) and 24 other tissues See more Orthologs mouse all
MMUT, Official Symbol MMUTprovided by HGNC Official Full Name methylmalonyl-CoA mutaseprovided by HGNC Primary source HGNC:HGNC:7526 See related Ensembl:ENSG00000146085 MIM:609058; AllianceGenome:HGNC:7526 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 MCM; MUT Summary This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 48.6), kidney (RPKM 23.2) and 25 other tissues See more Orthologs mouse all
MN1, Official Symbol MN1provided by HGNC Official Full Name MN1 proto-oncogene, transcriptional regulatorprovided by HGNC Primary source HGNC:HGNC:7180 See related Ensembl:ENSG00000169184 MIM:156100; AllianceGenome:HGNC:7180 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 MGCR; MGCR1; CEBALID; MGCR1-PEN; dJ353E16.2 Summary Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 2.3), esophagus (RPKM 2.2) and 21 other tissues See more Orthologs mouse all
MNAT1, Official Symbol MNAT1provided by HGNC Official Full Name MNAT1 component of CDK activating kinaseprovided by HGNC Primary source HGNC:HGNC:7181 See related Ensembl:ENSG00000020426 MIM:602659; AllianceGenome:HGNC:7181 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 MAT1; TFB3; CAP35; RNF66 Summary The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in fat (RPKM 3.3), prostate (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
MND1, Official Symbol MND1provided by HGNC Official Full Name meiotic nuclear divisions 1provided by HGNC Primary source HGNC:HGNC:24839 See related Ensembl:ENSG00000121211 MIM:611422; AllianceGenome:HGNC:24839 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 GAJ Summary The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008] Expression Broad expression in testis (RPKM 3.9), lymph node (RPKM 2.6) and 15 other tissues See more Orthologs mouse all
MNDA, Official Symbol MNDAprovided by HGNC Official Full Name myeloid cell nuclear differentiation antigenprovided by HGNC Primary source HGNC:HGNC:7183 See related Ensembl:ENSG00000163563 MIM:159553; AllianceGenome:HGNC:7183 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 PYHIN3 Summary The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 108.7), appendix (RPKM 52.2) and 7 other tissues See more Orthologs all
MNS1, Official Symbol MNS1provided by HGNC Official Full Name meiosis specific nuclear structural 1provided by HGNC Primary source HGNC:HGNC:29636 See related Ensembl:ENSG00000138587 MIM:610766; AllianceGenome:HGNC:29636 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 HTX9; SPATA40 Summary This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008] Expression Biased expression in testis (RPKM 28.7), kidney (RPKM 5.6) and 13 other tissues See more Orthologs mouse all
MNT, Official Symbol MNTprovided by HGNC Official Full Name MAX network transcriptional repressorprovided by HGNC Primary source HGNC:HGNC:7188 See related Ensembl:ENSG00000070444 MIM:603039; AllianceGenome:HGNC:7188 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 ROX; MAD6; MXD6; bHLHd3; lncRNA-HAL Summary The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 4.9), bone marrow (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
MNX1, Official Symbol MNX1provided by HGNC Official Full Name motor neuron and pancreas homeobox 1provided by HGNC Primary source HGNC:HGNC:4979 See related Ensembl:ENSG00000130675 MIM:142994; AllianceGenome:HGNC:4979 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 HB9; HLXB9; SCRA1; HOXHB9 Summary This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Expression Biased expression in colon (RPKM 3.3), small intestine (RPKM 2.3) and 7 other tissues See more Orthologs mouse all
MNX1-AS1, Official Symbol MNX1-AS1provided by HGNC Official Full Name MNX1 antisense RNA 1 (head to head)provided by HGNC Primary source HGNC:HGNC:48954 See related Ensembl:ENSG00000243479 AllianceGenome:HGNC:48954 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 MAYA; CCAT5 Expression Low expression observed in reference dataset See more
MNX1-AS2, Official Symbol MNX1-AS2provided by HGNC Official Full Name MNX1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40278 See related Ensembl:ENSG00000235029 AllianceGenome:HGNC:40278 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 Biased expression in colon (RPKM 4.7), small intestine (RPKM 4.0) and 7 other tissues See more
MOAP1, Official Symbol MOAP1provided by HGNC Official Full Name modulator of apoptosis 1provided by HGNC Primary source HGNC:HGNC:16658 See related Ensembl:ENSG00000165943 MIM:609485; AllianceGenome:HGNC:16658 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 MAP-1; PNMA4 Summary The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 65.7), heart (RPKM 21.0) and 24 other tissues See more Orthologs mouse all
MOB1A, Official Symbol MOB1Aprovided by HGNC Official Full Name MOB kinase activator 1Aprovided by HGNC Primary source HGNC:HGNC:16015 See related Ensembl:ENSG00000114978 MIM:609281; AllianceGenome:HGNC:16015 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 MOB1; MATS1; Mob4B; C2orf6; MOBK1B; MABKL1B; MOBKL1B Summary The protein encoded by this gene is a component of the Hippo signaling pathway, which controls organ size and tumor growth by enhancing apoptosis. Loss of the encoded protein results in cell proliferation and cancer formation. The encoded protein is also involved in the control of microtubule stability during cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in lymph node (RPKM 51.6), appendix (RPKM 43.0) and 24 other tissues See more Orthologs mouse all
MOB1AP1, Official Symbol MOB1AP1provided by HGNC Official Full Name MOB kinase activator 1A pseudogene 1provided by HGNC Primary source HGNC:HGNC:42638 See related Ensembl:ENSG00000228241 AllianceGenome:HGNC:42638 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 MOBKL1BP1
MOB1B, Official Symbol MOB1Bprovided by HGNC Official Full Name MOB kinase activator 1Bprovided by HGNC Primary source HGNC:HGNC:29801 See related Ensembl:ENSG00000173542 MIM:609282; AllianceGenome:HGNC:29801 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 MATS2; MOB4A; MOBKL1A Summary The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in kidney (RPKM 9.7), bone marrow (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
MOB2, Official Symbol MOB2provided by HGNC Official Full Name MOB kinase activator 2provided by HGNC Primary source HGNC:HGNC:24904 See related Ensembl:ENSG00000182208 MIM:611969; AllianceGenome:HGNC:24904 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 HCCA2 Summary Predicted to enable metal ion binding activity. Predicted to act upstream of or within actin cytoskeleton organization; positive regulation of neuron projection development; and positive regulation of protein phosphorylation. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: partial on reference assembly Expression Ubiquitous expression in skin (RPKM 12.1), endometrium (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
MOB3A, Official Symbol MOB3Aprovided by HGNC Official Full Name MOB kinase activator 3Aprovided by HGNC Primary source HGNC:HGNC:29802 See related Ensembl:ENSG00000172081 AllianceGenome:HGNC:29802 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 MOB1C; moblak; MOB-LAK; MOBKL2A Summary Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 27.0), spleen (RPKM 20.7) and 24 other tissues See more Orthologs mouse all
MOB3B, Official Symbol MOB3Bprovided by HGNC Official Full Name MOB kinase activator 3Bprovided by HGNC Primary source HGNC:HGNC:23825 See related Ensembl:ENSG00000120162 MIM:617652; AllianceGenome:HGNC:23825 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 MOB1D; C9orf35; MOBKL2B Summary The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 14.2), duodenum (RPKM 9.8) and 20 other tissues See more Orthologs mouse all
MOB3C, Official Symbol MOB3Cprovided by HGNC Official Full Name MOB kinase activator 3Cprovided by HGNC Primary source HGNC:HGNC:29800 See related Ensembl:ENSG00000142961 AllianceGenome:HGNC:29800 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 MOB1E; MOBKL2C Summary The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 4.4), spleen (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
MOB4, Official Symbol MOB4provided by HGNC Official Full Name MOB family member 4, phoceinprovided by HGNC Primary source HGNC:HGNC:17261 See related Ensembl:ENSG00000115540 MIM:609361; AllianceGenome:HGNC:17261 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 2C4D; MOB1; MOB3; PHOCN; PREI3; CGI-95; MOBKL3 Summary This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.[provided by RefSeq, Feb 2011] Expression Ubiquitous expression in adrenal (RPKM 20.9), esophagus (RPKM 14.5) and 25 other tissues See more Orthologs mouse all
MOBP, Official Symbol MOBPprovided by HGNC Official Full Name myelin associated oligodendrocyte basic proteinprovided by HGNC Primary source HGNC:HGNC:7189 See related Ensembl:ENSG00000168314 MIM:600948; AllianceGenome:HGNC:7189 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 enable actin binding activity and myosin binding activity. Predicted to be a structural constituent of myelin sheath. Predicted to be involved in nervous system development. Predicted to be located in mitochondrion. Predicted to be active in cortical actin cytoskeleton. Implicated in frontotemporal dementia. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward brain (RPKM 31.3) See more Orthologs mouse all
MOCOS, Official Symbol MOCOSprovided by HGNC Official Full Name molybdenum cofactor sulfuraseprovided by HGNC Primary source HGNC:HGNC:18234 See related Ensembl:ENSG00000075643 MIM:613274; AllianceGenome:HGNC:18234 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 MCS; MOS; HMCS Summary This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017] Expression Broad expression in liver (RPKM 7.8), adrenal (RPKM 7.4) and 18 other tissues See more Orthologs mouse all
MOCS1, Official Symbol MOCS1provided by HGNC Official Full Name molybdenum cofactor synthesis 1provided by HGNC Primary source HGNC:HGNC:7190 See related Ensembl:ENSG00000124615 MIM:603707; AllianceGenome:HGNC:7190 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 MIG11; MOCOD; MOCS1A; MOCS1B Summary Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017] Expression Ubiquitous expression in fat (RPKM 21.7), placenta (RPKM 14.9) and 24 other tissues See more Orthologs mouse all
MOCS2, Official Symbol MOCS2provided by HGNC Official Full Name molybdenum cofactor synthesis 2provided by HGNC Primary source HGNC:HGNC:7193 See related Ensembl:ENSG00000164172 MIM:603708; AllianceGenome:HGNC:7193 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 MPTS; MCBPE; MOCO1; MOCODB Summary Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 14.3), adrenal (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
MOCS3, Official Symbol MOCS3provided by HGNC Official Full Name molybdenum cofactor synthesis 3provided by HGNC Primary source HGNC:HGNC:15765 See related Ensembl:ENSG00000124217 MIM:609277; AllianceGenome:HGNC:15765 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 UBA4 Summary Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012] Orthologs mouse all
MOG, Official Symbol MOGprovided by HGNC Official Full Name myelin oligodendrocyte glycoproteinprovided by HGNC Primary source HGNC:HGNC:7197 See related Ensembl:ENSG00000204655 MIM:159465; AllianceGenome:HGNC:7197 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 BTN6; BTNL11; MOGIG2; NRCLP7 Summary The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 52.4) See more Orthologs mouse all
MOGAT1, Official Symbol MOGAT1provided by HGNC Official Full Name monoacylglycerol O-acyltransferase 1provided by HGNC Primary source HGNC:HGNC:18210 See related Ensembl:ENSG00000124003 MIM:610268; AllianceGenome:HGNC:18210 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 MGAT1; DGAT2L; DGAT2L1 Summary Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM, Mar 2008] Expression Biased expression in gall bladder (RPKM 7.8) and fat (RPKM 0.6) See more Orthologs mouse all
MOGAT2, Official Symbol MOGAT2provided by HGNC Official Full Name monoacylglycerol O-acyltransferase 2provided by HGNC Primary source HGNC:HGNC:23248 See related Ensembl:ENSG00000166391 MIM:610270; AllianceGenome:HGNC:23248 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 hDC5; MGAT2; DGAT2L5; DGAT2L5. Summary The protein encoded by this gene is an enzyme that catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. The encoded protein is important in the uptake of dietary fat by the small intestine. This protein forms a complex with diacylglycerol O-acyltransferase 2 in the endoplasmic reticulum, and this complex catalyzes the synthesis of triacylglycerol. [provided by RefSeq, Dec 2015] Annotation information Note: MGAT2 (Gene ID: 4247) and MOGAT2 (Gene ID: 80168) share the MGAT2 symbol/alias in common. MGAT2 is a widely used alternative name for monoacylglycerol O-acyltransferase 2 (MOGAT2), which can be confused with the official symbol for MGAT2, mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase. [25 Jun 2018] Expression Biased expression in small intestine (RPKM 52.4), duodenum (RPKM 48.1) and 2 other tissues See more Orthologs mouse all
MOGAT3, Official Symbol MOGAT3provided by HGNC Official Full Name monoacylglycerol O-acyltransferase 3provided by HGNC Primary source HGNC:HGNC:23249 See related Ensembl:ENSG00000106384 MIM:610184; AllianceGenome:HGNC:23249 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 DC7; MGAT3; DGAT2L2 Summary Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM, Mar 2008] Expression Biased expression in small intestine (RPKM 14.2), duodenum (RPKM 14.1) and 3 other tissues See more Orthologs mouse all
MOGS, Official Symbol MOGSprovided by HGNC Official Full Name mannosyl-oligosaccharide glucosidaseprovided by HGNC Primary source HGNC:HGNC:24862 See related Ensembl:ENSG00000115275 MIM:601336; AllianceGenome:HGNC:24862 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 DER7; GCS1; CDG2B; CWH41 Summary This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in duodenum (RPKM 32.8), placenta (RPKM 24.5) and 25 other tissues See more Orthologs mouse all
MOK, Official Symbol MOKprovided by HGNC Official Full Name MOK protein kinaseprovided by HGNC Primary source HGNC:HGNC:9833 See related Ensembl:ENSG00000080823 MIM:605762; AllianceGenome:HGNC:9833 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 RAGE; RAGE1; STK30; RAGE-1 Summary This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012] Expression Broad expression in testis (RPKM 9.4), thyroid (RPKM 2.1) and 15 other tissues See more Orthologs mouse all
MON1A, Official Symbol MON1Aprovided by HGNC Official Full Name MON1 homolog A, secretory trafficking associatedprovided by HGNC Primary source HGNC:HGNC:28207 See related Ensembl:ENSG00000164077 MIM:611464; AllianceGenome:HGNC:28207 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 SAND1 Summary Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in protein secretion. Predicted to act upstream of or within cellular iron ion homeostasis and protein transport. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 6.4), testis (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
MON1B, Official Symbol MON1Bprovided by HGNC Official Full Name MON1 homolog B, secretory trafficking associatedprovided by HGNC Primary source HGNC:HGNC:25020 See related Ensembl:ENSG00000103111 MIM:608954; AllianceGenome:HGNC:25020 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 SRG1; HSRG1; SAND2 Summary Involved in early viral transcription and late viral transcription. Located in cytoplasm. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 20.4), thyroid (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
MON2, Official Symbol MON2provided by HGNC Official Full Name MON2 homolog, regulator of endosome-to-Golgi traffickingprovided by HGNC Primary source HGNC:HGNC:29177 See related Ensembl:ENSG00000061987 MIM:616822; AllianceGenome:HGNC:29177 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 involved in Golgi to endosome transport. Located in early endosome membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 6.3), ovary (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
MORC1, Official Symbol MORC1provided by HGNC Official Full Name MORC family CW-type zinc finger 1provided by HGNC Primary source HGNC:HGNC:7198 See related Ensembl:ENSG00000114487 MIM:603205; AllianceGenome:HGNC:7198 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 CT33; MORC; ZCW6 Summary This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009] Expression Restricted expression toward testis (RPKM 9.4) See more Orthologs mouse all
MORC1-AS1, Official Symbol MORC1-AS1provided by HGNC Official Full Name MORC1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40377 See related Ensembl:ENSG00000239314 AllianceGenome:HGNC:40377 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MORC2, Official Symbol MORC2provided by HGNC Official Full Name MORC family CW-type zinc finger 2provided by HGNC Primary source HGNC:HGNC:23573 See related Ensembl:ENSG00000133422 MIM:616661; AllianceGenome:HGNC:23573 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 ZCW3; CMT2Z; DIGFAN; ZCWCC1 Summary This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016] Expression Broad expression in testis (RPKM 20.8), ovary (RPKM 5.3) and 24 other tissues See more Orthologs mouse all
MORC2-AS1, Official Symbol MORC2-AS1provided by HGNC Official Full Name MORC2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:26662 See related Ensembl:ENSG00000235989 AllianceGenome:HGNC:26662 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 C22orf27; NCRNA00325 Expression Biased expression in testis (RPKM 34.3) and lymph node (RPKM 1.7) See more