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GJD3 (gap junction protein delta 3)

Identity

Alias_namesGJC1
gap junction protein, chi 1, 31.9kDa
gap junction protein, delta 3, 31.9kDa
Alias_symbol (synonym)CX31.9
GJA11
Cx30.2
Other alias
HGNC (Hugo) GJD3
LocusID (NCBI) 125111
Atlas_Id 63802
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 40360653 and ends at 40364693 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)GJD3   19147
Cards
Entrez_Gene (NCBI)GJD3  125111  gap junction protein delta 3
AliasesCX31.9; Cx30.2; GJA11; GJC1
GeneCards (Weizmann)GJD3
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr17:40360653-40364693 [Contig_View]  GJD3 [Vega]
TCGA cBioPortalGJD3
AceView (NCBI)GJD3
Genatlas (Paris)GJD3
WikiGenes125111
SOURCE (Princeton)GJD3
Genetics Home Reference (NIH)GJD3
Genomic and cartography
GoldenPath hg38 (UCSC)GJD3  -     chr17:40360653-40364693 -  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJD3  -     17q21.2   [Description]    (hg19-Feb_2009)
EnsemblGJD3 - 17q21.2 [CytoView hg19]  GJD3 - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBIGJD3 [Mapview hg19]  GJD3 [Mapview hg38]
OMIM607425   
Gene and transcription
Genbank (Entrez)AK125254 BC153089
RefSeq transcript (Entrez)NM_152219
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJD3
Cluster EST : UnigeneHs.444663 [ NCBI ]
CGAP (NCI)Hs.444663
Gene ExpressionGJD3 [ NCBI-GEO ]   GJD3 [ EBI - ARRAY_EXPRESS ]   GJD3 [ SEEK ]   GJD3 [ MEM ]
Gene Expression Viewer (FireBrowse)GJD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)125111
GTEX Portal (Tissue expression)GJD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N144   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N144  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N144
Splice isoforms : SwissVarQ8N144
PhosPhoSitePlusQ8N144
Domaine pattern : Prosite (Expaxy)CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    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)GJD3
DMDM Disease mutations125111
Blocks (Seattle)GJD3
SuperfamilyQ8N144
Peptide AtlasQ8N144
HPRD08461
IPIIPI00166072   IPI00879578   
Protein Interaction databases
DIP (DOE-UCLA)Q8N144
IntAct (EBI)Q8N144
BioGRIDGJD3
STRING (EMBL)GJD3
ZODIACGJD3
Ontologies - Pathways
QuickGOQ8N144
Ontology : AmiGOion channel activity  protein binding  integral component of plasma membrane  connexin complex  cell communication  response to glucose  cell surface  gap junction assembly  ion transmembrane transport  cell communication involved in cardiac conduction  gap junction channel activity involved in cardiac conduction electrical coupling  
Ontology : EGO-EBIion channel activity  protein binding  integral component of plasma membrane  connexin complex  cell communication  response to glucose  cell surface  gap junction assembly  ion transmembrane transport  cell communication involved in cardiac conduction  gap junction channel activity involved in cardiac conduction electrical coupling  
NDEx NetworkGJD3
Atlas of Cancer Signalling NetworkGJD3
Wikipedia pathwaysGJD3
Orthology - Evolution
OrthoDB125111
Phylogenetic Trees/Animal Genes : TreeFamGJD3
HOVERGENQ8N144
HOGENOMQ8N144
Homologs : HomoloGeneGJD3
Homology/Alignments : Family Browser (UCSC)GJD3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJD3
dbVarGJD3
ClinVarGJD3
1000_GenomesGJD3 
Exome Variant ServerGJD3
ExAC (Exome Aggregation Consortium)GJD3 (select the gene name)
Genetic variants : HAPMAP125111
Genomic Variants (DGV)GJD3 [DGVbeta]
DECIPHERGJD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJD3 
Mutations
ICGC Data PortalGJD3 
TCGA Data PortalGJD3 
Broad Tumor PortalGJD3
OASIS PortalGJD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJD3
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
BioMutasearch GJD3
DgiDB (Drug Gene Interaction Database)GJD3
DoCM (Curated mutations)GJD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJD3 (select a term)
intoGenGJD3
Cancer3DGJD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607425   
Orphanet
MedgenGJD3
Genetic Testing Registry GJD3
NextProtQ8N144 [Medical]
TSGene125111
GENETestsGJD3
Target ValidationGJD3
Huge Navigator GJD3 [HugePedia]
snp3D : Map Gene to Disease125111
BioCentury BCIQGJD3
ClinGenGJD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD125111
Chemical/Pharm GKB GenePA162389707
Clinical trialGJD3
Miscellaneous
canSAR (ICR)GJD3 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJD3
EVEXGJD3
GoPubMedGJD3
iHOPGJD3
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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