AutismKB 2.0

Annotation Details for GJB2


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Basic Information Top
Gene Symbol:GJB2 ( CX26,DFNA3,DFNA3A,DFNB1,DFNB1A,HID,KID,NSRD1,PPK )
Gene Full Name: gap junction protein, beta 2, 26kDa
Band: 13q12.11
Quick LinksEntrez ID:2706; OMIM: 121011; Uniprot ID:CXB2_HUMAN; ENSEMBL ID: ENSG00000165474; HGNC ID: 4284
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005793TAS-endoplasmic reticulum-Golgi intermediate compartment-
GO:0005829IEA-cytosol-
GO:0005886TAS-plasma membrane-
GO:0005922IEA-connexin complex-
GO:0016021IEA-integral component of membrane-
GO:0016328IEA-lateral plasma membrane-
GO:0044297IEA-cell body-
GO:0048471IEA-perinuclear region of cytoplasm-
GO:0097449IEA-astrocyte projection-
GO ID Evidence Qualifier GO_term References
GO:0005243IEA-gap junction channel activity-
GO ID Evidence Qualifier GO_term References
GO:0002931IEA-response to ischemia-
GO:0006810TAS-transport1324944
GO:0007267IEA-cell-cell signaling-
GO:0007568IEA-aging-
GO:0007605IEA-sensory perception of sound-
GO:0016264TAS-gap junction assembly-
GO:0032355IEA-response to estradiol-
GO:0032496IEA-response to lipopolysaccharide-
GO:0032526IEA-response to retinoic acid-
GO:0032570IEA-response to progesterone-
GO:0034599IEA-cellular response to oxidative stress-
GO:0044752IEA-response to human chorionic gonadotropin-
GO:0046677IEA-response to antibiotic-
GO:0046697IEA-decidualization-
GO:0048839IEA-inner ear development-
GO:0055085IEA-transmembrane transport-
GO:0071377IEA-cellular response to glucagon stimulus-
GO:0071549IEA-cellular response to dexamethasone stimulus-
GO:1905867IEA-epididymis development-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
GJB2CAV110730511980479 Affinity Capture-Western
GJB2CAV110897211980479 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95720
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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


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