AutismKB 2.0

Annotation Detail for GJD2


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Basic Information Top
Gene Symbol:GJD2 ( CX36,GJA9,MGC138315,MGC138319 )
Gene Full Name: gap junction protein, delta 2, 36kDa
Band: 15q14
Quick LinksEntrez ID:57369; OMIM: 607058; Uniprot ID:CXD2_HUMAN; ENSEMBL ID: ENSG00000159248; HGNC ID: 19154
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020660
  • Location:chr15 32831971-32833980
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 32833986 32834431 445 228
H3K27me3 colorectalcancer 32835167 32836101 934 1654
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 32826894 32827114 220 4968
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 32832671 32833276 605 0
NRSF mAbJurkat 32830794 32833535 2741 0
NRSF-mono JurkatQuESTdata 32832693 32833269 576 0
NRSF-poly JurkatQuESTdata 32832544 32833269 725 0
STAT1 IFNSISSRdata 32832600 32833176 576 0
Validated miRNA targets Top
Cis-Nats regulation Top

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