Version 5.4
Homo sapiens Protein: MAML2
Summary
InnateDB Protein IDBP-594488.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MAML2
Protein Name mastermind-like 2 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000434552
InnateDB Gene IDBG-68673 (MAML2)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:12370315, ECO:0000269PubMed:12386158, ECO:0000269PubMed:12539049}.
Subcellular Localization Nucleus speckle {ECO:0000269PubMed:12370315}. Note=Nuclear, in a punctate manner.
Disease Associations Note=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/MECT1. 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.
Tissue Specificity Widely expressed with high levels detected in placenta, salivary gland and skeletal muscle. {ECO:0000269PubMed:14720503}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003713 transcription coactivator activity
Biological Process
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0007219 Notch signaling pathway
GO:0010467 gene expression
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0016607 nuclear speck
Protein Structure and Domains
PDB ID
InterPro IPR019082 Neurogenic mastermind-like, N-terminal
PFAM PF09596
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IZL2
PhosphoSite PhosphoSite-Q8IZL2
TrEMBL
UniProt Splice Variant
Entrez Gene 84441
UniGene Hs.741668
RefSeq NP_115803
HUGO HGNC:16259
OMIM 607537
CCDS CCDS44714
HPRD 09608
IMGT
EMBL AB058722 AP000779 AP000848 AP000870 AY040322 AY040324 AY186997 AY186998 BC152449 CR627398
GenPept AAI52450 AAK93831 AAK93833 AAP12462 AAP12463 BAB47448 CAH10491

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca