Aliases for MAML2 Gene
External Ids for MAML2 Gene
Previous GeneCards Identifiers for MAML2 Gene
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]
GeneCards Summary for MAML2 Gene
MAML2 (Mastermind Like Transcriptional Coactivator 2) is a Protein Coding gene. Diseases associated with MAML2 include Hidradenoma and Mucoepidermoid Carcinoma. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Th17 cell differentiation. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity. An important paralog of this gene is MAML3.
UniProtKB/Swiss-Prot Summary for MAML2 Gene
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.