InnateDB Protein
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IDBP-594488.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MAML2
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Protein Name
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mastermind-like 2 (Drosophila)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000434552
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InnateDB Gene
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IDBG-68673 (MAML2)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus speckle {ECO:0000269PubMed:12370315}. Note=Nuclear, in a punctate manner.
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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.
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Tissue Specificity |
Widely expressed with high levels detected in placenta, salivary gland and skeletal muscle. {ECO:0000269PubMed:14720503}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0003713
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transcription coactivator activity
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Biological Process |
GO:0006367
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transcription initiation from RNA polymerase II promoter
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GO:0007219
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Notch signaling pathway
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GO:0010467
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gene expression
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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Cellular Component |
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PDB ID |
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InterPro |
IPR019082
Neurogenic mastermind-like, N-terminal
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PFAM |
PF09596
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8IZL2
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PhosphoSite |
PhosphoSite-Q8IZL2
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
84441
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UniGene |
Hs.741668
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RefSeq |
NP_115803
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HUGO |
HGNC:16259
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OMIM |
607537
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CCDS |
CCDS44714
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HPRD |
09608
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IMGT |
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EMBL |
AB058722
AP000779
AP000848
AP000870
AY040322
AY040324
AY186997
AY186998
BC152449
CR627398
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GenPept |
AAI52450
AAK93831
AAK93833
AAP12462
AAP12463
BAB47448
CAH10491
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