mastermind homolog MAML2 (mastermind like 2, Mam-2, MAML2, KIAA1819)

Function

• transcriptional coactivator for NOTCH proteins
• amplify NOTCH-induced transcription of HES1
• potentiates activation by NOTCH3 & NOTCH4 more efficiently than MAML1 or MAML3
• interacts through its N-terminal region with ankyrin repeat region of Notch proteins NOTCH1, NOTCH2, NOTCH3 & NOTCH4
• forms DNA-binding complex with Notch proteins & RBPSUH/ RBP-J kappa

Structure

• belongs to the mastermind family.
• C-terminal domain is required for transcriptional activation

Compartment

• nucleus, nuclear speckle

Expression

• widely expressed
• high levels detected in placenta, salivary gland, skeletal muscle

Pathology

• a chromosomal translocation t(11;19)(q21;p13) involving MAML2 with CRTC1/MECT is found in mucoepidermoid carcinomas, benign Warthin tumors & clear cell hidradenomas.
• the fusion protein consists of the N-terminus of CRTC1 joined to the C-terminus of MAML2
• the reciprocal fusion protein consisting of the N-terminus of MAML2 joined to the C-terminus of CRTC1 has been detected in a small number of mucoepidermoid carcinomas

More general terms

• mastermind-like family protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=84441
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:84441
• OMIM: https://mirror.omim.org/entry/607537
• UniProt: http://www.uniprot.org/uniprot/Q8IZL2.html