MAML2 (original) (raw)

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Protein-coding gene in the species Homo sapiens

MAML2
Identifiers
Aliases	MAML2, MAM-3, MAM2, MAM3, MLL-mastermind like transcriptional coactivator 2
External IDs	OMIM: 607537; GeneCards: MAML2; OMA:MAML2 - orthologs
Gene location (Human)Chr.Chromosome 11 (human)[1]Band11q21Start95,976,598 bp[1]End96,343,195 bp[1]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inmucosa of paranasal sinuscartilage tissuelactiferous ductskin of hipparietal pleurabronchial epithelial cellvisceral pleurarenal medullamucosa of ileumsynovial membranen/aMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function transcription coactivator activity Cellular component nuclear speck nucleus nucleoplasm Biological process Notch signaling pathway transcription initiation from RNA polymerase II promoter regulation of transcription, DNA-templated transcription, DNA-templated positive regulation of transcription by RNA polymerase II positive regulation of transcription of Notch receptor target positive regulation of Notch signaling pathway Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez84441n/aEnsemblENSG00000184384n/aUniProtQ8IZL2n/aRefSeq (mRNA)NM_032427n/aRefSeq (protein)NP_115803n/aLocation (UCSC)Chr 11: 95.98 – 96.34 Mbn/aPubMed search[2]n/a
Wikidata
View/Edit Human

Mastermind-like protein 2 is a protein that in humans is encoded by the MAML2 gene.[3][4][5]

Details on the activity of the N-terminal domain of Mastermind-like protein 2 may be found under MamL-1.

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000184384 – Ensembl, May 2017
2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. ^ Wu L, Sun T, Kobayashi K, Gao P, Griffin JD (Oct 2002). "Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors". Mol Cell Biol. 22 (21): 7688–700. doi:10.1128/MCB.22.21.7688-7700.2002. PMC 135662. PMID 12370315.
4. ^ Lin SE, Oyama T, Nagase T, Harigaya K, Kitagawa M (Dec 2002). "Identification of new human mastermind proteins defines a family that consists of positive regulators for notch signaling". J Biol Chem. 277 (52): 50612–20. doi:10.1074/jbc.M209529200. PMID 12386158.
5. ^ "Entrez Gene: MAML2 mastermind-like 2 (Drosophila)".

• Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
• Tonon G, Modi S, Wu L, Kubo A, Coxon AB, Komiya T, O'Neil K, Stover K, El-Naggar A, Griffin JD, Kirsch IR, Kaye FJ (2003). "t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway". Nat. Genet. 33 (2): 208–13. doi:10.1038/ng1083. PMID 12539049. S2CID 23417795.
• Enlund F, Behboudi A, Andrén Y, Oberg C, Lendahl U, Mark J, Stenman G (2004). "Altered Notch signaling resulting from expression of a WAMTP1-MAML2 gene fusion in mucoepidermoid carcinomas and benign Warthin's tumors". Exp. Cell Res. 292 (1): 21–8. doi:10.1016/j.yexcr.2003.09.007. PMID 14720503.
• Behboudi A, Winnes M, Gorunova L, van den Oord JJ, Mertens F, Enlund F, Stenman G (2005). "Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion". Genes Chromosomes Cancer. 43 (2): 202–5. doi:10.1002/gcc.20168. PMID 15729701. S2CID 39267344.
• Wu L, Liu J, Gao P, Nakamura M, Cao Y, Shen H, Griffin JD (2005). "Transforming activity of MECT1-MAML2 fusion oncoprotein is mediated by constitutive CREB activation". EMBO J. 24 (13): 2391–402. doi:10.1038/sj.emboj.7600719. PMC 1173159. PMID 15961999.
• Okabe M, Miyabe S, Nagatsuka H, Terada A, Hanai N, Yokoi M, Shimozato K, Eimoto T, Nakamura S, Nagai N, Hasegawa Y, Inagaki H (2007). "MECT1-MAML2 fusion transcript defines a favorable subset of mucoepidermoid carcinoma". Clin. Cancer Res. 12 (13): 3902–7. doi:10.1158/1078-0432.CCR-05-2376. PMID 16818685.
• Winnes M, Mölne L, Suurküla M, Andrén Y, Persson F, Enlund F, Stenman G (2007). "Frequent fusion of the CRTC1 and MAML2 genes in clear cell variants of cutaneous hidradenomas". Genes Chromosomes Cancer. 46 (6): 559–63. doi:10.1002/gcc.20440. PMID 17334997. S2CID 39594598.
• Tirado Y, Williams MD, Hanna EY, Kaye FJ, Batsakis JG, El-Naggar AK (2007). "CRTC1/MAML2 fusion transcript in high grade mucoepidermoid carcinomas of salivary and thyroid glands and Warthin's tumors: implications for histogenesis and biologic behavior". Genes Chromosomes Cancer. 46 (7): 708–15. doi:10.1002/gcc.20458. PMID 17437281. S2CID 24634433.
• Nemoto N, Suzukawa K, Shimizu S, Shinagawa A, Takei N, Taki T, Hayashi Y, Kojima H, Kawakami Y, Nagasawa T (2007). "Identification of a novel fusion gene MLL-MAML2 in secondary acute myelogenous leukemia and myelodysplastic syndrome with inv(11)(q21q23)". Genes Chromosomes Cancer. 46 (9): 813–9. doi:10.1002/gcc.20467. PMID 17551948. S2CID 42629564.