AutismKB 2.0

Annotation Details for NOTCH4


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Basic Information Top
Gene Symbol:NOTCH4 ( FLJ16302,INT3,MGC74442,NOTCH3 )
Gene Full Name: notch 4
Band: 6p21.32
Quick LinksEntrez ID:4855; OMIM: 164951; Uniprot ID:NOTC4_HUMAN; ENSEMBL ID: ENSG00000204301; HGNC ID: 7884
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005576TAS-extracellular region-
GO:0005634TAS-nucleus8681805
GO:0005654TAS-nucleoplasm-
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0005829TAS-cytosol-
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral component of plasma membrane11823422
GO:0009986IDA-cell surface11823422
GO ID Evidence Qualifier GO_term References
GO:0004872TAS-receptor activity11823422
GO:0005509TAS-calcium ion binding11823422
GO:0005515IPI-protein binding7671825
GO:0046982TAS-protein heterodimerization activity8681805
GO ID Evidence Qualifier GO_term References
GO:0001569ISS-branching involved in blood vessel morphogenesis-
GO:0001709TAS-cell fate determination11823422
GO:0001763ISS-morphogenesis of a branching structure-
GO:0001886IEA-endothelial cell morphogenesis-
GO:0006367TAS-transcription initiation from RNA polymerase II promoter-
GO:0007219TAS-Notch signaling pathway-
GO:0007220TAS-Notch receptor processing-
GO:0007221TAS-positive regulation of transcription of Notch receptor target18663143
GO:0009790ISS-embryo development-
GO:0030097TAS-hemopoiesis11532344
GO:0030154NAS-cell differentiation11823422
GO:0030879IDA-mammary gland development9576833
GO:0045596NAS-negative regulation of cell differentiation11823422
GO:0045602ISS-negative regulation of endothelial cell differentiation-
GO:0045893TAS-positive regulation of transcription, DNA-templated11823422
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MAML1NOTCH411091711101851 Reconstituted Complex
MAML1NOTCH411513811101851 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
NOTCH4rs2071282, rs367398, rs387071, rs422951 Gene overview in AlzGene
No data
Gene Symbol Poly Names Gene overview in SZGene
NOTCH4D6S1014, NOTCH4_(CTG)n, NOTCH4_(GAAG)n, NOTCH4_(TAA)n, NOTCH4_(TTAT)n, rs1044506, rs204993, rs204994, rs2071282, rs2071284, rs2071285, rs2071286, rs2071287, rs3130297i, rs3131290, rs3131296, rs3134942, rs367398, rs382259, rs387071, rs387081, rs397081, rs415929, rs422951, rs520688, rs520692, rs915894, rs915895, rs9268143 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:107471
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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