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GJB5 (gap junction protein beta 5)

Identity

Alias_namesgap junction protein, beta 5 (connexin 31.1)
gap junction protein, beta 5
gap junction protein, beta 5, 31.1kDa
Alias_symbol (synonym)CX31.1
Other alias
HGNC (Hugo) GJB5
LocusID (NCBI) 2709
Atlas_Id 52871
Location 1p34.3  [Link to chromosome band 1p34]
Location_base_pair Starts at 34755047 and ends at 34758512 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)GJB5   4287
Cards
Entrez_Gene (NCBI)GJB5  2709  gap junction protein beta 5
AliasesCX31.1
GeneCards (Weizmann)GJB5
Ensembl hg19 (Hinxton)ENSG00000189280 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000189280 [Gene_View]  ENSG00000189280 [Sequence]  chr1:34755047-34758512 [Contig_View]  GJB5 [Vega]
ICGC DataPortalENSG00000189280
TCGA cBioPortalGJB5
AceView (NCBI)GJB5
Genatlas (Paris)GJB5
WikiGenes2709
SOURCE (Princeton)GJB5
Genetics Home Reference (NIH)GJB5
Genomic and cartography
GoldenPath hg38 (UCSC)GJB5  -     chr1:34755047-34758512 +  1p34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJB5  -     1p34.3   [Description]    (hg19-Feb_2009)
EnsemblGJB5 - 1p34.3 [CytoView hg19]  GJB5 - 1p34.3 [CytoView hg38]
Mapping of homologs : NCBIGJB5 [Mapview hg19]  GJB5 [Mapview hg38]
OMIM604493   
Gene and transcription
Genbank (Entrez)AA877961 AF052693 AK129509 BC004379
RefSeq transcript (Entrez)NM_005268
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJB5
Cluster EST : UnigeneHs.198249 [ NCBI ]
CGAP (NCI)Hs.198249
Alternative Splicing GalleryENSG00000189280
Gene ExpressionGJB5 [ NCBI-GEO ]   GJB5 [ EBI - ARRAY_EXPRESS ]   GJB5 [ SEEK ]   GJB5 [ MEM ]
Gene Expression Viewer (FireBrowse)GJB5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2709
GTEX Portal (Tissue expression)GJB5
Human Protein AtlasENSG00000189280-GJB5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95377   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95377  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95377
Splice isoforms : SwissVarO95377
PhosPhoSitePlusO95377
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin303    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)GJB5
DMDM Disease mutations2709
Blocks (Seattle)GJB5
SuperfamilyO95377
Human Protein Atlas [tissue]ENSG00000189280-GJB5 [tissue]
Peptide AtlasO95377
HPRD06840
IPIIPI00030070   
Protein Interaction databases
DIP (DOE-UCLA)O95377
IntAct (EBI)O95377
FunCoupENSG00000189280
BioGRIDGJB5
STRING (EMBL)GJB5
ZODIACGJB5
Ontologies - Pathways
QuickGOO95377
Ontology : AmiGOconnexin complex  cell communication  epidermis development  integral component of membrane  trophoblast giant cell differentiation  spongiotrophoblast differentiation  labyrinthine layer morphogenesis  epididymis development  
Ontology : EGO-EBIconnexin complex  cell communication  epidermis development  integral component of membrane  trophoblast giant cell differentiation  spongiotrophoblast differentiation  labyrinthine layer morphogenesis  epididymis development  
Pathways : KEGGCell Communication   
NDEx NetworkGJB5
Atlas of Cancer Signalling NetworkGJB5
Wikipedia pathwaysGJB5
Orthology - Evolution
OrthoDB2709
GeneTree (enSembl)ENSG00000189280
Phylogenetic Trees/Animal Genes : TreeFamGJB5
HOVERGENO95377
HOGENOMO95377
Homologs : HomoloGeneGJB5
Homology/Alignments : Family Browser (UCSC)GJB5
Gene fusions - Rearrangements
Fusion : QuiverGJB5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJB5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJB5
dbVarGJB5
ClinVarGJB5
1000_GenomesGJB5 
Exome Variant ServerGJB5
ExAC (Exome Aggregation Consortium)ENSG00000189280
GNOMAD BrowserENSG00000189280
Genetic variants : HAPMAP2709
Genomic Variants (DGV)GJB5 [DGVbeta]
DECIPHERGJB5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJB5 
Mutations
ICGC Data PortalGJB5 
TCGA Data PortalGJB5 
Broad Tumor PortalGJB5
OASIS PortalGJB5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJB5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJB5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GJB5
DgiDB (Drug Gene Interaction Database)GJB5
DoCM (Curated mutations)GJB5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJB5 (select a term)
intoGenGJB5
Cancer3DGJB5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604493   
Orphanet
DisGeNETGJB5
MedgenGJB5
Genetic Testing Registry GJB5
NextProtO95377 [Medical]
TSGene2709
GENETestsGJB5
Target ValidationGJB5
Huge Navigator GJB5 [HugePedia]
snp3D : Map Gene to Disease2709
BioCentury BCIQGJB5
ClinGenGJB5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2709
Chemical/Pharm GKB GenePA28698
Clinical trialGJB5
Miscellaneous
canSAR (ICR)GJB5 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJB5
EVEXGJB5
GoPubMedGJB5
iHOPGJB5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:27:16 CEST 2018

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