AutismKB 2.0

Annotation Details for NOTCH3


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Basic Information Top
Gene Symbol:NOTCH3 ( CADASIL,CASIL )
Gene Full Name: notch 3
Band: 19p13.12
Quick LinksEntrez ID:4854; OMIM: 600276; Uniprot ID:NOTC3_HUMAN; ENSEMBL ID: ENSG00000074181; HGNC ID: 7883
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:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0005886TAS-plasma membrane-
GO:0015629IDA-actin cytoskeleton-
GO:0016021IEA-integral component of membrane-
GO:0043235IDA-receptor complex23382219
GO ID Evidence Qualifier GO_term References
GO:0004872IEA-receptor activity-
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding11006133
GO:0019899IEA-enzyme binding-
GO:0045296IDA-cadherin binding25468996
GO ID Evidence Qualifier GO_term References
GO:0000122IEA-negative regulation of transcription from RNA polymerase II promoter-
GO:0006367TAS-transcription initiation from RNA polymerase II promoter-
GO:0007219TAS-Notch signaling pathway-
GO:0007220TAS-Notch receptor processing-
GO:0030900IEA-forebrain development-
GO:0045665IEA-negative regulation of neuron differentiation-
GO:0045944IEA-positive regulation of transcription from RNA polymerase II promoter-
GO:0048661IEA-positive regulation of smooth muscle cell proliferation-
GO:0048663IEA-neuron fate commitment-
GO:0048844IEA-artery morphogenesis-
GO:0072104IEA-glomerular capillary formation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NOTCH3JAG111091611006133 Reconstituted Complex
NOTCH3JAG110668911006133 Reconstituted Complex
NOTCH3JAG211091611006133 Reconstituted Complex
NOTCH3JAG210991811006133 Reconstituted Complex
NOTCH3NOTCH111091311404076 Phenotypic Suppression
NOTCH3NOTCH111091611404076 Phenotypic Suppression
DLL1NOTCH311839111006133 Reconstituted Complex
DLL1NOTCH311091611006133 Reconstituted Complex
MAML1NOTCH311091611101851 Reconstituted Complex
MAML1NOTCH311513811101851 Reconstituted Complex
SNW1NOTCH311091611404076 Reconstituted Complex
SNW1NOTCH311659711404076 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
NOTCH3rs1050477 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:99460
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-000329-5'