AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004004
  • Location:chr13 19659608-19665036
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 19669597 19669776 179 4650
CTCF CD4SISSRdata 19669597 19669776 179 4650
CTCF G2GSE9613 19669200 19669671 471 4399
H3K27me3 colorectalcancer 19666264 19667545 1281 1868
hScc1 BcellGSE12603 19669412 19669987 575 4663
hScc1 CdLSGSE12603 19669412 19670059 647 4699
hScc1 G2GSE9613 19669127 19669770 643 4412
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 19646752 19647634 882 12416
CTCF CD4GSE12889 19654494 19654793 299 4965
CTCF CD4SISSRdata 19654494 19654793 299 4965
CTCF JurkatGSE12889 19654352 19654682 330 5092
CTCF G2GSE9613 19649186 19649772 586 10130
CTCF G2GSE9613 19654487 19654825 338 4953
P300 T30-glioblastomaGSE21026 19646632 19647752 1120 12417
RARG MCF7GSE15244 19646673 19647777 1104 12384
Rb GrowingGSE19898 19646976 19647240 264 12501
TFAP2C MCF7GSE21234 19646663 19647482 819 12536
hScc1 BcellGSE12603 19649004 19649223 219 10495
hScc1 BcellGSE12603 19649635 19650129 494 9727
hScc1 BcellGSE12603 19654381 19654896 515 4970
hScc1 CdLSGSE12603 19654296 19654863 567 5029
hScc1 G2GSE9613 19654418 19654896 478 4952
p130 shRbQuiescentGSE19898 19646970 19647734 764 12257
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 19661379 19661747 368 0
CTCF G2GSE9613 19664498 19664879 381 0
Myc K562GSE19551 19661323 19661662 339 0
RARG MCF7GSE15244 19664177 19664498 321 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-183 hsa-mir-183 7 20739942
hsa-miR-183* hsa-mir-183 7 20739942
No data
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