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mastermind homolog MAML2 (mastermind like 2, Mam-2, MAML2, KIAA1819)
Function:
1) transcriptional coactivator for NOTCH proteins
2) amplify NOTCH-induced transcription of HES1
3) potentiates activation by NOTCH3 & NOTCH4 more efficiently than MAML1 or MAML3
4) interacts through its N-terminal region with ankyrin repeat region of Notch proteins NOTCH1, NOTCH2, NOTCH3 & NOTCH4
5) 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
General
mastermind-like family protein
Properties
SIZE: MW = 125 kD
entity length = 1153 aa
COMPARTMENT: cell nucleus
MOTIF: breakpoint {171-172}
glutamine-rich region {588-618}
MOTIF: glutamine residue (SEVERAL)
glutamine-rich region {624-630}
MOTIF: glutamine residue (SEVERAL)
glutamine-rich region {636-662}
MOTIF: glutamine residue (SEVERAL)
Database Correlations
OMIM 607537
UniProt Q8IZL2
Pfam PF09596
Entrez Gene 84441
Kegg hsa:84441
References
- UniProt :accession Q8IZL2
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
http://atlasgeneticsoncology.org/Genes/MAML2ID472.html