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GJB3 (gap junction protein beta 3)

Identity

Alias_namesDFNA2
EKV
gap junction protein, beta 3, 31kD (connexin 31)
gap junction protein, beta 3, 31kDa (connexin 31)
erythrokeratodermia variabilis
gap junction protein, beta 3, 31kDa
Alias_symbol (synonym)CX31
Other aliasDFNA2B
HGNC (Hugo) GJB3
LocusID (NCBI) 2707
Atlas_Id 63798
Location 1p34.3  [Link to chromosome band 1p34]
Location_base_pair Starts at 34782310 and ends at 34786366 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)GJB3   4285
Cards
Entrez_Gene (NCBI)GJB3  2707  gap junction protein beta 3
AliasesCX31; DFNA2; DFNA2B; EKV
GeneCards (Weizmann)GJB3
Ensembl hg19 (Hinxton)ENSG00000188910 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188910 [Gene_View]  chr1:34782310-34786366 [Contig_View]  GJB3 [Vega]
ICGC DataPortalENSG00000188910
TCGA cBioPortalGJB3
AceView (NCBI)GJB3
Genatlas (Paris)GJB3
WikiGenes2707
SOURCE (Princeton)GJB3
Genetics Home Reference (NIH)GJB3
Genomic and cartography
GoldenPath hg38 (UCSC)GJB3  -     chr1:34782310-34786366 +  1p34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJB3  -     1p34.3   [Description]    (hg19-Feb_2009)
EnsemblGJB3 - 1p34.3 [CytoView hg19]  GJB3 - 1p34.3 [CytoView hg38]
Mapping of homologs : NCBIGJB3 [Mapview hg19]  GJB3 [Mapview hg38]
OMIM133200   220290   603324   612644   
Gene and transcription
Genbank (Entrez)AF052692 AK026139 AK312890 AL547036 BC012918
RefSeq transcript (Entrez)NM_001005752 NM_024009
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJB3
Cluster EST : UnigeneHs.522561 [ NCBI ]
CGAP (NCI)Hs.522561
Alternative Splicing GalleryENSG00000188910
Gene ExpressionGJB3 [ NCBI-GEO ]   GJB3 [ EBI - ARRAY_EXPRESS ]   GJB3 [ SEEK ]   GJB3 [ MEM ]
Gene Expression Viewer (FireBrowse)GJB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2707
GTEX Portal (Tissue expression)GJB3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75712   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75712  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75712
Splice isoforms : SwissVarO75712
PhosPhoSitePlusO75712
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin31    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)GJB3
DMDM Disease mutations2707
Blocks (Seattle)GJB3
SuperfamilyO75712
Human Protein AtlasENSG00000188910
Peptide AtlasO75712
HPRD04505
IPIIPI00026801   IPI01014765   
Protein Interaction databases
DIP (DOE-UCLA)O75712
IntAct (EBI)O75712
FunCoupENSG00000188910
BioGRIDGJB3
STRING (EMBL)GJB3
ZODIACGJB3
Ontologies - Pathways
QuickGOO75712
Ontology : AmiGOin utero embryonic development  placenta development  gap junction channel activity  cytoplasm  gap junction  connexin complex  cell communication  spermatogenesis  integral component of membrane  cell junction  intracellular membrane-bounded organelle  skin development  transmembrane transport  cellular response to retinoic acid  
Ontology : EGO-EBIin utero embryonic development  placenta development  gap junction channel activity  cytoplasm  gap junction  connexin complex  cell communication  spermatogenesis  integral component of membrane  cell junction  intracellular membrane-bounded organelle  skin development  transmembrane transport  cellular response to retinoic acid  
NDEx NetworkGJB3
Atlas of Cancer Signalling NetworkGJB3
Wikipedia pathwaysGJB3
Orthology - Evolution
OrthoDB2707
GeneTree (enSembl)ENSG00000188910
Phylogenetic Trees/Animal Genes : TreeFamGJB3
HOVERGENO75712
HOGENOMO75712
Homologs : HomoloGeneGJB3
Homology/Alignments : Family Browser (UCSC)GJB3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJB3
dbVarGJB3
ClinVarGJB3
1000_GenomesGJB3 
Exome Variant ServerGJB3
ExAC (Exome Aggregation Consortium)GJB3 (select the gene name)
Genetic variants : HAPMAP2707
Genomic Variants (DGV)GJB3 [DGVbeta]
DECIPHERGJB3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJB3 
Mutations
ICGC Data PortalGJB3 
TCGA Data PortalGJB3 
Broad Tumor PortalGJB3
OASIS PortalGJB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJB3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJB3
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)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GJB3
DgiDB (Drug Gene Interaction Database)GJB3
DoCM (Curated mutations)GJB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJB3 (select a term)
intoGenGJB3
Cancer3DGJB3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133200    220290    603324    612644   
Orphanet16912    7023    12046    12047   
MedgenGJB3
Genetic Testing Registry GJB3
NextProtO75712 [Medical]
TSGene2707
GENETestsGJB3
Target ValidationGJB3
Huge Navigator GJB3 [HugePedia]
snp3D : Map Gene to Disease2707
BioCentury BCIQGJB3
ClinGenGJB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2707
Chemical/Pharm GKB GenePA28696
Clinical trialGJB3
Miscellaneous
canSAR (ICR)GJB3 (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJB3
EVEXGJB3
GoPubMedGJB3
iHOPGJB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:50:40 CEST 2017

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