psui3905/ncbi_genes_summary huggingface dataset:
MALAT1, Official Symbol MALAT1provided by HGNC Official Full Name metastasis associated lung adenocarcinoma transcript 1provided by HGNC Primary source HGNC:HGNC:29665 See related Ensembl:ENSG00000251562 MIM:607924; AllianceGenome:HGNC:29665 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HCN; NEAT2; PRO2853; LINC00047; NCRNA00047 Summary This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3' end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3' triple helical structure. This transcript is retained in the nucleus where it is thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015] Expression Ubiquitous expression in bone marrow (RPKM 137.2), thyroid (RPKM 115.3) and 24 other tissues See more Orthologs mouse all
MALINC1, Official Symbol MALINC1provided by HGNC Official Full Name mitosis associated long intergenic non-coding RNA 1provided by HGNC Primary source HGNC:HGNC:49009 See related AllianceGenome:HGNC:49009 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 MA-linc1; LINC01024 Expression Broad expression in testis (RPKM 3.6), thyroid (RPKM 1.1) and 23 other tissues See more
MALL, Official Symbol MALLprovided by HGNC Official Full Name mal, T cell differentiation protein likeprovided by HGNC Primary source HGNC:HGNC:6818 See related Ensembl:ENSG00000144063 MIM:602022; AllianceGenome:HGNC:6818 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 BENE Summary This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 101.4), duodenum (RPKM 83.6) and 10 other tissues See more Orthologs mouse all
MALLP1, Official Symbol MALLP1provided by HGNC Official Full Name MALL pseudogene 1provided by HGNC Primary source HGNC:HGNC:55038 Gene type pseudo Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
MALLP2, Official Symbol MALLP2provided by HGNC Official Full Name MALL pseudogene 2provided by HGNC Primary source HGNC:HGNC:55039 See related AllianceGenome:HGNC:55039 Gene type pseudo 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 lymph node (RPKM 1.2), esophagus (RPKM 0.7) and 9 other tissues See more
MALRD1, Official Symbol MALRD1provided by HGNC Official Full Name MAM and LDL receptor class A domain containing 1provided by HGNC Primary source HGNC:HGNC:24331 See related Ensembl:ENSG00000204740 MIM:617715; AllianceGenome:HGNC:24331 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 DIET1; C10orf112; bA265G8.2 Summary This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Biased expression in small intestine (RPKM 12.3) and duodenum (RPKM 11.0) See more Orthologs mouse all
MALSU1, Official Symbol MALSU1provided by HGNC Official Full Name mitochondrial assembly of ribosomal large subunit 1provided by HGNC Primary source HGNC:HGNC:21721 See related Ensembl:ENSG00000156928 MIM:614624; AllianceGenome:HGNC:21721 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 mtRsfA; C7orf30 Summary Predicted to enable ribosomal large subunit binding activity. Involved in negative regulation of mitochondrial translation and ribosomal large subunit biogenesis. Located in cytosol and mitochondrion. Colocalizes with mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 9.8), fat (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
MALT1, Official Symbol MALT1provided by HGNC Official Full Name MALT1 paracaspaseprovided by HGNC Primary source HGNC:HGNC:6819 See related Ensembl:ENSG00000172175 MIM:604860; AllianceGenome:HGNC:6819 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 MLT; MLT1; IMD12; PCASP1 Summary This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018] Expression Ubiquitous expression in lymph node (RPKM 9.6), appendix (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
MALT1-AS1, Official Symbol MALT1-AS1provided by HGNC Official Full Name MALT1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55306 See related Ensembl:ENSG00000267226 AllianceGenome:HGNC:55306 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 testis (RPKM 1.7), kidney (RPKM 1.0) and 17 other tissues See more Orthologs all
MAMDC2, Official Symbol MAMDC2provided by HGNC Official Full Name MAM domain containing 2provided by HGNC Primary source HGNC:HGNC:23673 See related Ensembl:ENSG00000165072 MIM:612879; AllianceGenome:HGNC:23673 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 glycosaminoglycan binding activity. Predicted to act upstream of or within peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 16.0), endometrium (RPKM 14.8) and 24 other tissues See more Orthologs mouse all
MAMDC4, Official Symbol MAMDC4provided by HGNC Official Full Name MAM domain containing 4provided by HGNC Primary source HGNC:HGNC:24083 See related Ensembl:ENSG00000177943 MIM:617208; AllianceGenome:HGNC:24083 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 AEGP; EDTB Summary Predicted to be involved in protein transport. Predicted to be located in membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 5.0), spleen (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
MAML1, Official Symbol MAML1provided by HGNC Official Full Name mastermind like transcriptional coactivator 1provided by HGNC Primary source HGNC:HGNC:13632 See related Ensembl:ENSG00000161021 MIM:605424; AllianceGenome:HGNC:13632 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 Mam1; Mam-1 Summary This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 9.7), ovary (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
MAML2, Official Symbol MAML2provided by HGNC Official Full Name mastermind like transcriptional coactivator 2provided by HGNC Primary source HGNC:HGNC:16259 See related Ensembl:ENSG00000184384 MIM:607537; AllianceGenome:HGNC:16259 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 MAM2; MAM3; MAM-3; MLL-MAML2 Summary The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in spleen (RPKM 4.1), placenta (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
MAML3, Official Symbol MAML3provided by HGNC Official Full Name mastermind like transcriptional coactivator 3provided by HGNC Primary source HGNC:HGNC:16272 See related Ensembl:ENSG00000196782 MIM:608991; AllianceGenome:HGNC:16272 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 GDN; MAM2; CAGH3; ERDA3; MAM-2; TNRC3; mam-3 Summary Enables transcription coactivator activity. Involved in Notch signaling pathway and positive regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 4.8), endometrium (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
MAMLD1, Official Symbol MAMLD1provided by HGNC Official Full Name mastermind like domain containing 1provided by HGNC Primary source HGNC:HGNC:2568 See related Ensembl:ENSG00000013619 MIM:300120; AllianceGenome:HGNC:2568 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 CG1; F18; HYSP2; CXorf6 Summary This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] Expression Broad expression in testis (RPKM 8.2), ovary (RPKM 6.7) and 22 other tissues See more Orthologs mouse all
MAMSTR, Official Symbol MAMSTRprovided by HGNC Official Full Name MEF2 activating motif and SAP domain containing transcriptional regulatorprovided by HGNC Primary source HGNC:HGNC:26689 See related Ensembl:ENSG00000176909 MIM:610349; AllianceGenome:HGNC:26689 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 MASTR Summary Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of myotube differentiation and positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 4.3), stomach (RPKM 4.0) and 22 other tissues See more Orthologs mouse all
MAN1A1, Official Symbol MAN1A1provided by HGNC Official Full Name mannosidase alpha class 1A member 1provided by HGNC Primary source HGNC:HGNC:6821 See related Ensembl:ENSG00000111885 MIM:604344; AllianceGenome:HGNC:6821 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 MAN9; HUMM3; HUMM9 Summary This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in fat (RPKM 62.7), liver (RPKM 46.9) and 25 other tissues See more Orthologs mouse all
MAN1A2, Official Symbol MAN1A2provided by HGNC Official Full Name mannosidase alpha class 1A member 2provided by HGNC Primary source HGNC:HGNC:6822 See related Ensembl:ENSG00000198162 MIM:604345; AllianceGenome:HGNC:6822 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 MAN1B Summary Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in thyroid (RPKM 10.5), placenta (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
MAN1B1, Official Symbol MAN1B1provided by HGNC Official Full Name mannosidase alpha class 1B member 1provided by HGNC Primary source HGNC:HGNC:6823 See related Ensembl:ENSG00000177239 MIM:604346; AllianceGenome:HGNC:6823 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 MRT15; ERMAN1; ERManI; MANA-ER Summary This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in testis (RPKM 13.4), thyroid (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
MAN1B1-DT, Official Symbol MAN1B1-DTprovided by HGNC Official Full Name MAN1B1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:48715 See related Ensembl:ENSG00000268996 AllianceGenome:HGNC:48715 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 MAN1B1-AS1
MAN1C1, Official Symbol MAN1C1provided by HGNC Official Full Name mannosidase alpha class 1C member 1provided by HGNC Primary source HGNC:HGNC:19080 See related Ensembl:ENSG00000117643 MIM:616772; AllianceGenome:HGNC:19080 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 HMIC; MAN1C; MAN1A3; pp6318 Summary Predicted to enable mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Predicted to be involved in N-glycan processing. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 10.6), thyroid (RPKM 9.8) and 23 other tissues See more Orthologs mouse all
MAN2A1, Official Symbol MAN2A1provided by HGNC Official Full Name mannosidase alpha class 2A member 1provided by HGNC Primary source HGNC:HGNC:6824 See related Ensembl:ENSG00000112893 MIM:154582; AllianceGenome:HGNC:6824 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 MANA2; MANII; GOLIM7; AMan II Summary This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in duodenum (RPKM 14.9), colon (RPKM 14.2) and 25 other tissues See more Orthologs mouse all
MAN2A2, Official Symbol MAN2A2provided by HGNC Official Full Name mannosidase alpha class 2A member 2provided by HGNC Primary source HGNC:HGNC:6825 See related Ensembl:ENSG00000196547 MIM:600988; AllianceGenome:HGNC:6825 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 MANA2X; alpha-MIIx Summary Predicted to enable alpha-mannosidase activity. Predicted to be involved in N-glycan processing and protein deglycosylation. Predicted to be integral component of membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 28.4), brain (RPKM 21.1) and 25 other tissues See more Orthologs mouse all
MAN2B1, Official Symbol MAN2B1provided by HGNC Official Full Name mannosidase alpha class 2B member 1provided by HGNC Primary source HGNC:HGNC:6826 See related Ensembl:ENSG00000104774 MIM:609458; AllianceGenome:HGNC:6826 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 MANB; LAMAN Summary This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] Expression Ubiquitous expression in spleen (RPKM 48.9), appendix (RPKM 36.3) and 25 other tissues See more Orthologs mouse all
MAN2B2, Official Symbol MAN2B2provided by HGNC Official Full Name mannosidase alpha class 2B member 2provided by HGNC Primary source HGNC:HGNC:29623 See related Ensembl:ENSG00000013288 MIM:618899; AllianceGenome:HGNC:29623 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 EpMAN Summary Predicted to enable alpha-mannosidase activity. Predicted to be involved in mannose metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 17.8), ovary (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
MAN2C1, Official Symbol MAN2C1provided by HGNC Official Full Name mannosidase alpha class 2C member 1provided by HGNC Primary source HGNC:HGNC:6827 See related Ensembl:ENSG00000140400 MIM:154580; AllianceGenome:HGNC:6827 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 MANA; CDDG2; MANA1; MAN6A8 Summary Predicted to enable alpha-mannosidase activity. Predicted to be involved in oligosaccharide catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 23.4), ovary (RPKM 23.0) and 25 other tissues See more Orthologs mouse all
MANBA, Official Symbol MANBAprovided by HGNC Official Full Name mannosidase betaprovided by HGNC Primary source HGNC:HGNC:6831 See related Ensembl:ENSG00000109323 MIM:609489; AllianceGenome:HGNC:6831 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 MANB1 Summary This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 8.4), thyroid (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
MANBAL, Official Symbol MANBALprovided by HGNC Official Full Name mannosidase beta likeprovided by HGNC Primary source HGNC:HGNC:15799 See related Ensembl:ENSG00000101363 AllianceGenome:HGNC:15799 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 16.3), adrenal (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
MANCR, Official Symbol MANCRprovided by HGNC Official Full Name mitotically associated long non coding RNAprovided by HGNC Primary source HGNC:HGNC:44678 See related Ensembl:ENSG00000231298 AllianceGenome:HGNC:44678 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LINC00704 Expression Biased expression in spleen (RPKM 1.8), colon (RPKM 0.5) and 5 other tissues See more
MANEA, Official Symbol MANEAprovided by HGNC Official Full Name mannosidase endo-alphaprovided by HGNC Primary source HGNC:HGNC:21072 See related Ensembl:ENSG00000172469 MIM:612327; AllianceGenome:HGNC:21072 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 ENDO; hEndo Summary N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008] Expression Ubiquitous expression in urinary bladder (RPKM 7.3), thyroid (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
MANEA-DT, Official Symbol MANEA-DTprovided by HGNC Official Full Name MANEA divergent transcriptprovided by HGNC Primary source HGNC:HGNC:43732 See related Ensembl:ENSG00000261366 AllianceGenome:HGNC:43732 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 MANEA-AS1 Expression Ubiquitous expression in fat (RPKM 1.6), testis (RPKM 1.5) and 24 other tissues See more
MANEAL, Official Symbol MANEALprovided by HGNC Official Full Name mannosidase endo-alpha likeprovided by HGNC Primary source HGNC:HGNC:26452 See related Ensembl:ENSG00000185090 AllianceGenome:HGNC:26452 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 alpha-mannosidase activity. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 5.9), thyroid (RPKM 2.3) and 21 other tissues See more Orthologs mouse all
MANEALP1, Official Symbol MANEALP1provided by HGNC Official Full Name MANEAL pseudogene 1provided by HGNC Primary source HGNC:HGNC:54641 See related Ensembl:ENSG00000214070 AllianceGenome:HGNC:54641 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MANF, Official Symbol MANFprovided by HGNC Official Full Name mesencephalic astrocyte derived neurotrophic factorprovided by HGNC Primary source HGNC:HGNC:15461 See related Ensembl:ENSG00000145050 MIM:601916; AllianceGenome:HGNC:15461 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 ARP; ARMET Summary The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and results in cell proliferation. Activity of this protein is important in promoting the survival of dopaminergic neurons. The presence of polymorphisms in the N-terminal arginine-rich region, including a specific mutation that changes an ATG start codon to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus no longer thought to be tumor-related. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in thyroid (RPKM 71.3), appendix (RPKM 44.4) and 25 other tissues See more Orthologs mouse all
MANSC1, Official Symbol MANSC1provided by HGNC Official Full Name MANSC domain containing 1provided by HGNC Primary source HGNC:HGNC:25505 See related Ensembl:ENSG00000111261 AllianceGenome:HGNC:25505 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 LOH12CR3; 9130403P13Rik Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in salivary gland (RPKM 15.1), esophagus (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
MANSC4, Official Symbol MANSC4provided by HGNC Official Full Name MANSC domain containing 4provided by HGNC Primary source HGNC:HGNC:40023 See related Ensembl:ENSG00000205693 AllianceGenome:HGNC:40023 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
MAOA, Official Symbol MAOAprovided by HGNC Official Full Name monoamine oxidase Aprovided by HGNC Primary source HGNC:HGNC:6833 See related Ensembl:ENSG00000189221 MIM:309850; AllianceGenome:HGNC:6833 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 BRNRS; MAO-A Summary This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] Expression Broad expression in small intestine (RPKM 94.9), fat (RPKM 78.4) and 19 other tissues See more Orthologs mouse all
MAOB, Official Symbol MAOBprovided by HGNC Official Full Name monoamine oxidase Bprovided by HGNC Primary source HGNC:HGNC:6834 See related Ensembl:ENSG00000069535 MIM:309860; AllianceGenome:HGNC:6834 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 The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 72.6), ovary (RPKM 62.8) and 18 other tissues See more Orthologs mouse all
MAP10, Official Symbol MAP10provided by HGNC Official Full Name microtubule associated protein 10provided by HGNC Primary source HGNC:HGNC:29265 See related Ensembl:ENSG00000212916 MIM:618551; AllianceGenome:HGNC:29265 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 MTR120; KIAA1383 Summary Enables microtubule binding activity. Involved in microtubule cytoskeleton organization; positive regulation of cytokinesis; and regulation of microtubule-based process. Located in microtubule cytoskeleton and midbody. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
MAP1A, Official Symbol MAP1Aprovided by HGNC Official Full Name microtubule associated protein 1Aprovided by HGNC Primary source HGNC:HGNC:6835 See related Ensembl:ENSG00000166963 MIM:600178; AllianceGenome:HGNC:6835 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 MAP1L; MTAP1A Summary This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 73.0), heart (RPKM 5.9) and 1 other tissue See more Orthologs mouse all
MAP1B, Official Symbol MAP1Bprovided by HGNC Official Full Name microtubule associated protein 1Bprovided by HGNC Primary source HGNC:HGNC:6836 See related Ensembl:ENSG00000131711 MIM:157129; AllianceGenome:HGNC:6836 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 MAP5; PVNH9; DFNA83; FUTSCH; PPP1R102 Summary This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 49.2), adrenal (RPKM 7.7) and 10 other tissues See more Orthologs mouse all
MAP1LC3A, Official Symbol MAP1LC3Aprovided by HGNC Official Full Name microtubule associated protein 1 light chain 3 alphaprovided by HGNC Primary source HGNC:HGNC:6838 See related Ensembl:ENSG00000101460 MIM:601242; AllianceGenome:HGNC:6838 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 LC3; LC3A; ATG8E; MAP1ALC3; MAP1BLC3 Summary MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in brain (RPKM 31.2), fat (RPKM 18.3) and 25 other tissues See more Orthologs mouse all
MAP1LC3B, Official Symbol MAP1LC3Bprovided by HGNC Official Full Name microtubule associated protein 1 light chain 3 betaprovided by HGNC Primary source HGNC:HGNC:13352 See related Ensembl:ENSG00000140941 MIM:609604; AllianceGenome:HGNC:13352 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 LC3B; ATG8F; MAP1LC3B-a; MAP1A/1BLC3 Summary The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 94.3), brain (RPKM 58.8) and 25 other tissues See more Orthologs mouse all
MAP1LC3B2, Official Symbol MAP1LC3B2provided by HGNC Official Full Name microtubule associated protein 1 light chain 3 beta 2provided by HGNC Primary source HGNC:HGNC:34390 See related Ensembl:ENSG00000258102 AllianceGenome:HGNC:34390 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 ATG8G Summary Predicted to enable microtubule binding activity and ubiquitin protein ligase binding activity. Predicted to be involved in autophagy of mitochondrion; cellular response to nitrogen starvation; and macroautophagy. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 28.8), brain (RPKM 18.9) and 25 other tissues See more Orthologs all
MAP1LC3BP1, Official Symbol MAP1LC3BP1provided by HGNC Official Full Name microtubule associated protein 1 light chain 3 beta pseudogene 1provided by HGNC Primary source HGNC:HGNC:49783 See related Ensembl:ENSG00000231909 AllianceGenome:HGNC:49783 Gene type protein coding RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MAP1LC3C, Official Symbol MAP1LC3Cprovided by HGNC Official Full Name microtubule associated protein 1 light chain 3 gammaprovided by HGNC Primary source HGNC:HGNC:13353 See related Ensembl:ENSG00000197769 MIM:609605; AllianceGenome:HGNC:13353 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 LC3C; ATG8J Summary Autophagy is a highly regulated bulk degradation process that plays an important role in cellular maintenance and development. MAP1LC3C is an ortholog of the yeast autophagosome protein Atg8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM, Nov 2010] Expression Biased expression in placenta (RPKM 3.9), lung (RPKM 1.9) and 9 other tissues See more Orthologs all
MAP1LC3P, Official Symbol MAP1LC3Pprovided by HGNC Official Full Name microtubule associated protein 1 light chain 3 pseudogeneprovided by HGNC Primary source HGNC:HGNC:31004 See related AllianceGenome:HGNC:31004 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 HsT312
MAP1S, Official Symbol MAP1Sprovided by HGNC Official Full Name microtubule associated protein 1Sprovided by HGNC Primary source HGNC:HGNC:15715 See related Ensembl:ENSG00000130479 MIM:607573; AllianceGenome:HGNC:15715 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 MAP8; BPY2IP1; C19orf5; VCY2IP1; VCY2IP-1 Summary Enables DNA binding activity and cytoskeletal protein binding activity. Involved in microtubule bundle formation; neuron projection morphogenesis; and regulation of chromatin disassembly. Located in several cellular components, including microtubule cytoskeleton; nuclear lumen; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 11.7), brain (RPKM 7.0) and 25 other tissues See more Orthologs mouse all
MAP2, Official Symbol MAP2provided by HGNC Official Full Name microtubule associated protein 2provided by HGNC Primary source HGNC:HGNC:6839 See related Ensembl:ENSG00000078018 MIM:157130; AllianceGenome:HGNC:6839 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-2; MAP2A; MAP2B; MAP2C Summary This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010] Expression Biased expression in brain (RPKM 82.4), thyroid (RPKM 4.7) and 1 other tissue See more Orthologs mouse all
MAP2K1, Official Symbol MAP2K1provided by HGNC Official Full Name mitogen-activated protein kinase kinase 1provided by HGNC Primary source HGNC:HGNC:6840 See related Ensembl:ENSG00000169032 MIM:176872; AllianceGenome:HGNC:6840 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 MEL; CFC3; MEK1; MKK1; MAPKK1; PRKMK1 Summary The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 34.3), fat (RPKM 20.3) and 25 other tissues See more Orthologs mouse all
MAP2K2, Official Symbol MAP2K2provided by HGNC Official Full Name mitogen-activated protein kinase kinase 2provided by HGNC Primary source HGNC:HGNC:6842 See related Ensembl:ENSG00000126934 MIM:601263; AllianceGenome:HGNC:6842 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 CFC4; MEK2; MKK2; MAPKK2; PRKMK2 Summary The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 32.3), testis (RPKM 26.3) and 25 other tissues See more Orthologs mouse all