UniProt:Q8IZL2 MAML2

chain
  • chain:1-1156
checksum E0DBDB669BDE6DA1
comment
  • 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.SUBUNIT Interacts through its N-terminal region with the ankyrin repeat region of the Notch proteins NOTCH1, NOTCH2, NOTCH3 and NOTCH4. Forms a DNA-binding complex with Notch proteins and RBPSUH/RBP-J kappa.INTERACTION Nuclear, in a punctate manner.TISSUE SPECIFICITY Widely expressed with high levels detected in placenta, salivary gland and skeletal muscle.DOMAIN The C-terminal domain is required for transcriptional activation.DISEASE 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. 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.SIMILARITY Belongs to the mastermind family.SEQUENCE CAUTION Extended N-terminus.
created [InstanceEdit:212200] Caudy, M, 2008-02-08 20:35:02
crossReference
databaseName UniProt
dbId 212192
description
  • recommendedName: Mastermind-like protein 2 shortName: Mam-2
displayName UniProt:Q8IZL2 MAML2
geneName
  • MAML2
  • KIAA1819
identifier Q8IZL2
isSequenceChanged false
keyword
  • Activator
  • Chromosomal rearrangement
  • Notch signaling pathway
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Transcription
  • Transcription regulation
modified [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType Protein
name
  • MAML2
otherIdentifier
  • 11740258_a_at
  • 11759346_a_at
  • 16743517
  • 235106_PM_at
  • 235106_at
  • 235457_PM_at
  • 235457_at
  • 3387538
  • 3387539
  • 3387540
  • 3387541
  • 3387543
  • 3387544
  • 3387546
  • 3387569
  • 3387570
  • 3387571
  • 3387572
  • 3387573
  • 3387574
  • 3387575
  • 3387576
  • 3387612
  • 3387613
  • 3387614
  • 3387615
  • 3387616
  • 3387617
  • 54975_at
  • 7951133
  • 84441
  • A_24_P169092
  • GO:0003713
  • GO:0005515
  • GO:0005634
  • GO:0005654
  • GO:0006355
  • GO:0007219
  • GO:0007221
  • GO:0016607
  • GO:0045944
  • HMNXSV003019529
  • HMNXSV003020942
  • Hs.112472.0.A1_3p_at
  • Hs.290131.0.A1_3p_at
  • ILMN_1765729
  • PH_hs_0022292
  • TC11002211.hg
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • MAML2_HUMAN
  • A7MD26
  • Q6AI23
  • Q6Y3A3
  • Q8IUL3
  • Q96JK6
sequenceLength 1156
species [Species:48887] Homo sapiens
stId uniprot:Q8IZL2
url http://purl.uniprot.org/uniprot/Q8IZL2
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