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GJB1 (gap junction protein beta 1)

Identity

Other namesCMTX
CMTX1
CX32
HGNC (Hugo) GJB1
LocusID (NCBI) 2705
Atlas_Id 43629
Location Xq13.1  [Link to chromosome band Xq13]
Location_base_pair Starts at 70443056 and ends at 70445065 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MTMR3 (22q12.2) / GJB1 (Xq13.1)

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)GJB1   4283
Cards
Entrez_Gene (NCBI)GJB1  2705  gap junction protein beta 1
AliasesCMTX; CMTX1; CX32
GeneCards (Weizmann)GJB1
Ensembl hg19 (Hinxton)ENSG00000169562 [Gene_View]  chrX:70443056-70445065 [Contig_View]  GJB1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000169562 [Gene_View]  chrX:70443056-70445065 [Contig_View]  GJB1 [Vega]
ICGC DataPortalENSG00000169562
TCGA cBioPortalGJB1
AceView (NCBI)GJB1
Genatlas (Paris)GJB1
WikiGenes2705
SOURCE (Princeton)GJB1
Genomic and cartography
GoldenPath hg19 (UCSC)GJB1  -     chrX:70443056-70445065 +  Xq13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GJB1  -     Xq13.1   [Description]    (hg38-Dec_2013)
EnsemblGJB1 - Xq13.1 [CytoView hg19]  GJB1 - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBIGJB1 [Mapview hg19]  GJB1 [Mapview hg38]
OMIM302800   304040   
Gene and transcription
Genbank (Entrez)AA041403 AK313474 BC002805 BC022426 BC039198
RefSeq transcript (Entrez)NM_000166 NM_001097642
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_008357 NT_011651 NW_004929443
Consensus coding sequences : CCDS (NCBI)GJB1
Cluster EST : UnigeneHs.333303 [ NCBI ]
CGAP (NCI)Hs.333303
Alternative Splicing GalleryENSG00000169562
Gene ExpressionGJB1 [ NCBI-GEO ]   GJB1 [ EBI - ARRAY_EXPRESS ]   GJB1 [ SEEK ]   GJB1 [ MEM ]
Gene Expression Viewer (FireBrowse)GJB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2705
GTEX Portal (Tissue expression)GJB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08034 (Uniprot)
NextProtP08034  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08034
Splice isoforms : SwissVarP08034 (Swissvar)
PhosPhoSitePlusP08034
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin32    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)  
DMDM Disease mutations2705
Blocks (Seattle)GJB1
PDB (SRS)1TXH   
PDB (PDBSum)1TXH   
PDB (IMB)1TXH   
PDB (RSDB)1TXH   
Structural Biology KnowledgeBase1TXH   
SCOP (Structural Classification of Proteins)1TXH   
CATH (Classification of proteins structures)1TXH   
SuperfamilyP08034
Human Protein AtlasENSG00000169562
Peptide AtlasP08034
HPRD02367
IPIIPI00027190   IPI00640484   
Protein Interaction databases
DIP (DOE-UCLA)P08034
IntAct (EBI)P08034
FunCoupENSG00000169562
BioGRIDGJB1
STRING (EMBL)GJB1
ZODIACGJB1
Ontologies - Pathways
QuickGOP08034
Ontology : AmiGOgap junction channel activity  endoplasmic reticulum membrane  connexon complex  transport  cell-cell signaling  nervous system development  purine ribonucleotide transport  integral component of membrane  gap junction assembly  protein homodimerization activity  protein oligomerization  transmembrane transport  
Ontology : EGO-EBIgap junction channel activity  endoplasmic reticulum membrane  connexon complex  transport  cell-cell signaling  nervous system development  purine ribonucleotide transport  integral component of membrane  gap junction assembly  protein homodimerization activity  protein oligomerization  transmembrane transport  
NDEx NetworkGJB1
Atlas of Cancer Signalling NetworkGJB1
Wikipedia pathwaysGJB1
Orthology - Evolution
OrthoDB2705
GeneTree (enSembl)ENSG00000169562
Phylogenetic Trees/Animal Genes : TreeFamGJB1
Homologs : HomoloGeneGJB1
Homology/Alignments : Family Browser (UCSC)GJB1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGJB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJB1
dbVarGJB1
ClinVarGJB1
1000_GenomesGJB1 
Exome Variant ServerGJB1
ExAC (Exome Aggregation Consortium)GJB1 (select the gene name)
Genetic variants : HAPMAP2705
Genomic Variants (DGV)GJB1 [DGVbeta]
Mutations
ICGC Data PortalGJB1 
TCGA Data PortalGJB1 
Broad Tumor PortalGJB1
OASIS PortalGJB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJB1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GJB1
DgiDB (Drug Gene Interaction Database)GJB1
DoCM (Curated mutations)GJB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJB1 (select a term)
intoGenGJB1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:70443056-70445065  ENSG00000169562
CONAN: Copy Number AnalysisGJB1 
Mutations and Diseases : HGMDGJB1
OMIM302800    304040   
MedgenGJB1
Genetic Testing Registry GJB1
NextProtP08034 [Medical]
TSGene2705
GENETestsGJB1
Huge Navigator GJB1 [HugePedia]
snp3D : Map Gene to Disease2705
BioCentury BCIQGJB1
ClinGenGJB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2705
Chemical/Pharm GKB GenePA28694
Clinical trialGJB1
Miscellaneous
canSAR (ICR)GJB1 (select the gene name)
Probes
Litterature
PubMed191 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJB1
EVEXGJB1
GoPubMedGJB1
iHOPGJB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:50:56 CEST 2016

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