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 Pre-NOTCH Expression and Processing. 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.