MAML2

Name

mastermind like transcriptional coactivator 2

Type

protein-coding

Position

95,976,598–96,343,195 (−)

Aliases

MAM-3, MAM2, MAM3, MLL-MAML2

Ensembl

ENSG00000184384

RefSeq RNA

NM_032427.4, XM_011543023.4, XM_047427710.1, XM_054370189.1

RefSeq protein

NP_115803.1, XP_011541325.1, XP_047283666.1, XP_054226164.1

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].

via MyGene.info

Gene · Ensembl

mastermind like transcriptional coactivator 2

Symbol

MAML2

Biotype

Protein coding

Organism

Homo sapiens

Location

11:95,976,598-96,343,255

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

via Wikidata · CC0