AutismKB 2.0

Annotation Details for MAML2


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Basic Information Top
Gene Symbol:MAML2 ( DKFZp686N0150,KIAA1819,MAM-3,MAM2,MAM3,MGC176701,MLL-MAML2 )
Gene Full Name: mastermind-like 2 (Drosophila)
Band: 11q21
Quick LinksEntrez ID:84441; OMIM: 607537; Uniprot ID:MAML2_HUMAN; ENSEMBL ID: ENSG00000184384; HGNC ID: 16259
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus12370315
GO:0005654TAS-nucleoplasm-
GO:0016607IEA-nuclear speck-
GO ID Evidence Qualifier GO_term References
GO:0003713IDA-transcription coactivator activity12370315
GO ID Evidence Qualifier GO_term References
GO:0006367TAS-transcription initiation from RNA polymerase II promoter-
GO:0007219IDA-Notch signaling pathway12370315
GO:0007219TAS-Notch signaling pathway-
GO:0007221IBA-positive regulation of transcription of Notch receptor target-
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter12370315
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MAML2CSHL110783112370315 Affinity Capture-Western
MAML2CSHL112408012370315 Affinity Capture-Western
MAML2NOTCH111091312370315 Two-hybrid
MAML2NOTCH112408012370315 Two-hybrid
MAML2MAML111513812370315 Affinity Capture-Western
MAML2MAML112408012370315 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2389460
  • Data Attributes: HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018