MAML2
Domain
The C-terminal domain is required for transcriptional activation.
Function
Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3.
Involvement in disease
A chromosomal aberration involving MAML2 is found in mucoepidermoid carcinomas, benign Warthin tumors and clear cell hidradenomas. Translocation t(11;19)(q21;p13) with CRTC1. 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.
Sequence Similarities
Belongs to the mastermind family.
Tissue Specificity
Widely expressed with high levels detected in placenta, salivary gland and skeletal muscle.
Cellular localization
- Nucleus speckle
- Nuclear, in a punctate manner.
Alternative names
KIAA1819, MAML2, Mastermind-like protein 2, Mam-2