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GJC3 (gap junction protein gamma 3)

Identity

Alias_namesGJE1
gap junction protein, epsilon 1, 29kDa
gap junction protein, gamma 3, 30.2kDa
Alias_symbol (synonym)CX30.2
Other aliasCX29
CX31.3
HGNC (Hugo) GJC3
LocusID (NCBI) 349149
Atlas_Id 54333
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 99923269 and ends at 99929620 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AZGP1 (7q22.1) / GJC3 (7q22.1)GJC3 (7q22.1) / AZGP1 (7q22.1)SMURF1 (7q22.1) / GJC3 (7q22.1)
SMURF1 7q22.1 / GJC3 7q22.1

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)GJC3   17495
Cards
Entrez_Gene (NCBI)GJC3  349149  gap junction protein gamma 3
AliasesCX29; CX30.2; CX31.3; GJE1
GeneCards (Weizmann)GJC3
Ensembl hg19 (Hinxton)ENSG00000176402 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176402 [Gene_View]  chr7:99923269-99929620 [Contig_View]  GJC3 [Vega]
ICGC DataPortalENSG00000176402
TCGA cBioPortalGJC3
AceView (NCBI)GJC3
Genatlas (Paris)GJC3
WikiGenes349149
SOURCE (Princeton)GJC3
Genetics Home Reference (NIH)GJC3
Genomic and cartography
GoldenPath hg38 (UCSC)GJC3  -     chr7:99923269-99929620 -  7q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJC3  -     7q22.1   [Description]    (hg19-Feb_2009)
EnsemblGJC3 - 7q22.1 [CytoView hg19]  GJC3 - 7q22.1 [CytoView hg38]
Mapping of homologs : NCBIGJC3 [Mapview hg19]  GJC3 [Mapview hg38]
OMIM611925   
Gene and transcription
Genbank (Entrez)AF503615 AY297109 BC038207 BC038208 BC043381
RefSeq transcript (Entrez)NM_181538
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJC3
Cluster EST : UnigeneHs.647524 [ NCBI ]
CGAP (NCI)Hs.647524
Alternative Splicing GalleryENSG00000176402
Gene ExpressionGJC3 [ NCBI-GEO ]   GJC3 [ EBI - ARRAY_EXPRESS ]   GJC3 [ SEEK ]   GJC3 [ MEM ]
Gene Expression Viewer (FireBrowse)GJC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)349149
GTEX Portal (Tissue expression)GJC3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFK1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFK1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFK1
Splice isoforms : SwissVarQ8NFK1
PhosPhoSitePlusQ8NFK1
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    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)GJC3
DMDM Disease mutations349149
Blocks (Seattle)GJC3
SuperfamilyQ8NFK1
Human Protein AtlasENSG00000176402
Peptide AtlasQ8NFK1
HPRD13580
IPIIPI00302941   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFK1
IntAct (EBI)Q8NFK1
FunCoupENSG00000176402
BioGRIDGJC3
STRING (EMBL)GJC3
ZODIACGJC3
Ontologies - Pathways
QuickGOQ8NFK1
Ontology : AmiGOconnexin complex  sensory perception of sound  integral component of membrane  myelination  protein homodimerization activity  myelin sheath  AV node cell to bundle of His cell communication by electrical coupling  gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling  
Ontology : EGO-EBIconnexin complex  sensory perception of sound  integral component of membrane  myelination  protein homodimerization activity  myelin sheath  AV node cell to bundle of His cell communication by electrical coupling  gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling  
NDEx NetworkGJC3
Atlas of Cancer Signalling NetworkGJC3
Wikipedia pathwaysGJC3
Orthology - Evolution
OrthoDB349149
GeneTree (enSembl)ENSG00000176402
Phylogenetic Trees/Animal Genes : TreeFamGJC3
HOVERGENQ8NFK1
HOGENOMQ8NFK1
Homologs : HomoloGeneGJC3
Homology/Alignments : Family Browser (UCSC)GJC3
Gene fusions - Rearrangements
Fusion : MitelmanAZGP1/GJC3 [7q22.1/7q22.1]  [t(7;7)(q22;q22)]  
Fusion : MitelmanSMURF1/GJC3 [7q22.1/7q22.1]  [t(7;7)(q22;q22)]  
Fusion: TCGASMURF1 7q22.1 GJC3 7q22.1 HNSC LGG
Fusion Cancer (Beijing)AZGP1 [7q22.1]  -  GJC3 [7q22.1]  [FUSC002392]  [FUSC002392]  [FUSC002392]  [FUSC002392]
Fusion Cancer (Beijing)GJC3 [7q22.1]  -  AZGP1 [7q22.1]  [FUSC004163]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJC3
dbVarGJC3
ClinVarGJC3
1000_GenomesGJC3 
Exome Variant ServerGJC3
ExAC (Exome Aggregation Consortium)GJC3 (select the gene name)
Genetic variants : HAPMAP349149
Genomic Variants (DGV)GJC3 [DGVbeta]
DECIPHERGJC3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJC3 
Mutations
ICGC Data PortalGJC3 
TCGA Data PortalGJC3 
Broad Tumor PortalGJC3
OASIS PortalGJC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJC3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJC3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GJC3
DgiDB (Drug Gene Interaction Database)GJC3
DoCM (Curated mutations)GJC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJC3 (select a term)
intoGenGJC3
Cancer3DGJC3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611925   
Orphanet
MedgenGJC3
Genetic Testing Registry GJC3
NextProtQ8NFK1 [Medical]
TSGene349149
GENETestsGJC3
Target ValidationGJC3
Huge Navigator GJC3 [HugePedia]
snp3D : Map Gene to Disease349149
BioCentury BCIQGJC3
ClinGenGJC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD349149
Chemical/Pharm GKB GenePA162389705
Clinical trialGJC3
Miscellaneous
canSAR (ICR)GJC3 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJC3
EVEXGJC3
GoPubMedGJC3
iHOPGJC3
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 12:35:18 CEST 2017

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