ENSG00000184384


Homo sapiens

Features
Gene ID: ENSG00000184384
  
Biological name :MAML2
  
Synonyms : MAML2 / mastermind like transcriptional coactivator 2 / Q8IZL2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q21
Gene start: 95976598
Gene end: 96343180
  
Corresponding Affymetrix probe sets: 235106_at (Human Genome U133 Plus 2.0 Array)   235457_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000483371
Ensembl peptide - ENSP00000434552
NCBI entrez gene - 84441     See in Manteia.
OMIM - 607537
RefSeq - XM_011543024
RefSeq - NM_032427
RefSeq - XM_011543023
RefSeq Peptide - NP_115803
swissprot - Q8IZL2
swissprot - A0A087X0G5
Ensembl - ENSG00000184384
  
Related genetic diseases (OMIM): 607537 - Mucoepidermoid salivary gland carcinoma
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01061591.1ENSDARG00000112977Danio rerio
 MAML2ENSGALG00000017199Gallus gallus
 Maml2ENSMUSG00000031925Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MAML3 / Q96JK9 / mastermind like transcriptional coactivator 3ENSG0000019678224
MAML1 / Q92585 / mastermind like transcriptional coactivator 1ENSG0000016102122


Protein motifs (from Interpro)
Interpro ID Name
 IPR019082  Neurogenic mastermind-like, N-terminal
 IPR036910  High mobility group box domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0007219 Notch signaling pathway TAS
 biological_processGO:0007221 positive regulation of transcription of Notch receptor target IBA
 biological_processGO:0045747 positive regulation of Notch signaling pathway TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0016607 nuclear speck IEA
 molecular_functionGO:0003713 transcription coactivator activity IDA


Pathways (from Reactome)
Pathway description
Pre-NOTCH Transcription and Translation
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
NOTCH1 Intracellular Domain Regulates Transcription
NOTCH2 intracellular domain regulates transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Notch-HLH transcription pathway
RUNX3 regulates NOTCH signaling
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000134250 NOTCH2 / Q04721  / reaction / complex
 ENSG00000100603 SNW1 / Q13573 / SNW domain containing 1  / complex
 ENSG00000074181 NOTCH3 / Q9UM47  / reaction / complex
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex / reaction
 ENSG00000168214 RBPJ / Q06330 / recombination signal binding protein for immunoglobulin kappa J region  / complex / reaction
 ENSG00000112237 CCNC / P24863 / cyclin C  / complex / reaction
 ENSG00000118260 CREB1 / P16220 / cAMP responsive element binding protein 1  / complex / reaction
 ENSG00000132964 CDK8 / P49336 / cyclin dependent kinase 8  / complex / reaction
 ENSG00000114166 KAT2B / Q92831 / lysine acetyltransferase 2B  / complex
 ENSG00000204301 NOTCH4 / Q99466  / complex / reaction
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / complex / reaction






 

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