Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GJB2 (gap junction protein beta 2)

Identity

Alias_namesDFNB1
DFNA3
gap junction protein, beta 2, 26kD (connexin 26)
gap junction protein, beta 2, 26kDa (connexin 26)
gap junction protein, beta 2, 26kDa
Alias_symbol (synonym)CX26
NSRD1
Other aliasDFNA3A
DFNB1A
HID
KID
PPK
HGNC (Hugo) GJB2
LocusID (NCBI) 2706
Atlas_Id 40716
Location 13q12.11  [Link to chromosome band 13q12]
Location_base_pair Starts at 20187465 and ends at 20192975 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GJB2   4284
Cards
Entrez_Gene (NCBI)GJB2  2706  gap junction protein beta 2
AliasesCX26; DFNA3; DFNA3A; DFNB1; 
DFNB1A; HID; KID; NSRD1; PPK
GeneCards (Weizmann)GJB2
Ensembl hg19 (Hinxton)ENSG00000165474 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165474 [Gene_View]  chr13:20187465-20192975 [Contig_View]  GJB2 [Vega]
ICGC DataPortalENSG00000165474
TCGA cBioPortalGJB2
AceView (NCBI)GJB2
Genatlas (Paris)GJB2
WikiGenes2706
SOURCE (Princeton)GJB2
Genetics Home Reference (NIH)GJB2
Genomic and cartography
GoldenPath hg38 (UCSC)GJB2  -     chr13:20187465-20192975 -  13q12.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJB2  -     13q12.11   [Description]    (hg19-Feb_2009)
EnsemblGJB2 - 13q12.11 [CytoView hg19]  GJB2 - 13q12.11 [CytoView hg38]
Mapping of homologs : NCBIGJB2 [Mapview hg19]  GJB2 [Mapview hg38]
OMIM121011   124500   148210   148350   149200   220290   304400   601544   602540   
Gene and transcription
Genbank (Entrez)AA947181 AA962716 AK225966 AK313595 BC017048
RefSeq transcript (Entrez)NM_004004
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJB2
Cluster EST : UnigeneHs.714494 [ NCBI ]
CGAP (NCI)Hs.714494
Alternative Splicing GalleryENSG00000165474
Gene ExpressionGJB2 [ NCBI-GEO ]   GJB2 [ EBI - ARRAY_EXPRESS ]   GJB2 [ SEEK ]   GJB2 [ MEM ]
Gene Expression Viewer (FireBrowse)GJB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2706
GTEX Portal (Tissue expression)GJB2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP29033   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP29033  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP29033
Splice isoforms : SwissVarP29033
PhosPhoSitePlusP29033
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin26    Connexin_CCC    Connexin_CS    Connexin_N   
Domain families : Pfam (Sanger)Connexin (PF00029)   
Domain families : Pfam (NCBI)pfam00029   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
Conserved Domain (NCBI)GJB2
DMDM Disease mutations2706
Blocks (Seattle)GJB2
PDB (SRS)1XIR    2ZW3    3IZ1    3IZ2    5ER7    5ERA    5KJ3    5KJG   
PDB (PDBSum)1XIR    2ZW3    3IZ1    3IZ2    5ER7    5ERA    5KJ3    5KJG   
PDB (IMB)1XIR    2ZW3    3IZ1    3IZ2    5ER7    5ERA    5KJ3    5KJG   
PDB (RSDB)1XIR    2ZW3    3IZ1    3IZ2    5ER7    5ERA    5KJ3    5KJG   
Structural Biology KnowledgeBase1XIR    2ZW3    3IZ1    3IZ2    5ER7    5ERA    5KJ3    5KJG   
SCOP (Structural Classification of Proteins)1XIR    2ZW3    3IZ1    3IZ2    5ER7    5ERA    5KJ3    5KJG   
CATH (Classification of proteins structures)1XIR    2ZW3    3IZ1    3IZ2    5ER7    5ERA    5KJ3    5KJG   
SuperfamilyP29033
Human Protein AtlasENSG00000165474
Peptide AtlasP29033
HPRD00413
IPIIPI00019868   
Protein Interaction databases
DIP (DOE-UCLA)P29033
IntAct (EBI)P29033
FunCoupENSG00000165474
BioGRIDGJB2
STRING (EMBL)GJB2
ZODIACGJB2
Ontologies - Pathways
QuickGOP29033
Ontology : AmiGOresponse to ischemia  gap junction channel activity  endoplasmic reticulum-Golgi intermediate compartment  cytosol  plasma membrane  connexin complex  transport  cell-cell signaling  aging  sensory perception of sound  integral component of membrane  gap junction assembly  lateral plasma membrane  response to estradiol  response to lipopolysaccharide  response to retinoic acid  response to progesterone  cellular response to oxidative stress  cell body  response to human chorionic gonadotropin  response to antibiotic  decidualization  perinuclear region of cytoplasm  inner ear development  transmembrane transport  cellular response to glucagon stimulus  cellular response to dexamethasone stimulus  astrocyte projection  epididymis development  
Ontology : EGO-EBIresponse to ischemia  gap junction channel activity  endoplasmic reticulum-Golgi intermediate compartment  cytosol  plasma membrane  connexin complex  transport  cell-cell signaling  aging  sensory perception of sound  integral component of membrane  gap junction assembly  lateral plasma membrane  response to estradiol  response to lipopolysaccharide  response to retinoic acid  response to progesterone  cellular response to oxidative stress  cell body  response to human chorionic gonadotropin  response to antibiotic  decidualization  perinuclear region of cytoplasm  inner ear development  transmembrane transport  cellular response to glucagon stimulus  cellular response to dexamethasone stimulus  astrocyte projection  epididymis development  
NDEx NetworkGJB2
Atlas of Cancer Signalling NetworkGJB2
Wikipedia pathwaysGJB2
Orthology - Evolution
OrthoDB2706
GeneTree (enSembl)ENSG00000165474
Phylogenetic Trees/Animal Genes : TreeFamGJB2
HOVERGENP29033
HOGENOMP29033
Homologs : HomoloGeneGJB2
Homology/Alignments : Family Browser (UCSC)GJB2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJB2
dbVarGJB2
ClinVarGJB2
1000_GenomesGJB2 
Exome Variant ServerGJB2
ExAC (Exome Aggregation Consortium)GJB2 (select the gene name)
Genetic variants : HAPMAP2706
Genomic Variants (DGV)GJB2 [DGVbeta]
DECIPHERGJB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJB2 
Mutations
ICGC Data PortalGJB2 
TCGA Data PortalGJB2 
Broad Tumor PortalGJB2
OASIS PortalGJB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJB2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJB2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)SpainMDB
BioMutasearch GJB2
DgiDB (Drug Gene Interaction Database)GJB2
DoCM (Curated mutations)GJB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJB2 (select a term)
intoGenGJB2
Cancer3DGJB2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM121011    124500    148210    148350    149200    220290    304400    601544    602540   
Orphanet17629    520    2190    2085    2460    12046    12047   
MedgenGJB2
Genetic Testing Registry GJB2
NextProtP29033 [Medical]
TSGene2706
GENETestsGJB2
Target ValidationGJB2
Huge Navigator GJB2 [HugePedia]
snp3D : Map Gene to Disease2706
BioCentury BCIQGJB2
ClinGenGJB2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2706
Chemical/Pharm GKB GenePA28695
Clinical trialGJB2
Miscellaneous
canSAR (ICR)GJB2 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJB2
EVEXGJB2
GoPubMedGJB2
iHOPGJB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 25 19:09:52 CEST 2017

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