MAML2

Protein-coding gene in the species Homo sapiens
MAML2
Identifiers
AliasesMAML2, MAM-3, MAM2, MAM3, MLL-mastermind like transcriptional coactivator 2
External IDsOMIM: 607537; GeneCards: MAML2; OMA:MAML2 - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for MAML2
Genomic location for MAML2
Band11q21Start95,976,598 bp[1]
End96,343,195 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of paranasal sinus

  • cartilage tissue

  • lactiferous duct

  • skin of hip

  • parietal pleura

  • bronchial epithelial cell

  • visceral pleura

  • renal medulla

  • mucosa of ileum

  • synovial membrane
    n/a
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular 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
Orthologs
SpeciesHumanMouse
Entrez

84441

n/a

Ensembl

ENSG00000184384

n/a

UniProt

Q8IZL2

n/a

RefSeq (mRNA)

NM_032427

n/a

RefSeq (protein)

NP_115803

n/a

Location (UCSC)Chr 11: 95.98 – 96.34 Mbn/a
PubMed 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]

See also

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

References

  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)".

Further reading

  • 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.


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