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GJA8 (gap junction protein alpha 8)

Identity

Alias_namesCAE1
CZP1
CAE
gap junction protein, alpha 8, 50kD (connexin 50)
gap junction protein, alpha 8, 50kDa (connexin 50)
gap junction protein, alpha 8, 50kDa
Alias_symbol (synonym)CX50
Other aliasCTRCT1
MP70
HGNC (Hugo) GJA8
LocusID (NCBI) 2703
Atlas_Id 63795
Location 1q21.2  [Link to chromosome band 1q21]
Location_base_pair Starts at 147902820 and ends at 147909268 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)GJA8   4281
Cards
Entrez_Gene (NCBI)GJA8  2703  gap junction protein alpha 8
AliasesCAE; CAE1; CTRCT1; CX50; 
CZP1; MP70
GeneCards (Weizmann)GJA8
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr1:147902820-147909268 [Contig_View]  GJA8 [Vega]
TCGA cBioPortalGJA8
AceView (NCBI)GJA8
Genatlas (Paris)GJA8
WikiGenes2703
SOURCE (Princeton)GJA8
Genetics Home Reference (NIH)GJA8
Genomic and cartography
GoldenPath hg38 (UCSC)GJA8  -     chr1:147902820-147909268 +  1q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJA8  -     1q21.2   [Description]    (hg19-Feb_2009)
EnsemblGJA8 - 1q21.2 [CytoView hg19]  GJA8 - 1q21.2 [CytoView hg38]
Mapping of homologs : NCBIGJA8 [Mapview hg19]  GJA8 [Mapview hg38]
OMIM116200   600897   612474   
Gene and transcription
Genbank (Entrez)AI364417 BC140363 BC146507 BQ184886 CD674975
RefSeq transcript (Entrez)NM_005267
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJA8
Cluster EST : UnigeneHs.632441 [ NCBI ]
CGAP (NCI)Hs.632441
Gene ExpressionGJA8 [ NCBI-GEO ]   GJA8 [ EBI - ARRAY_EXPRESS ]   GJA8 [ SEEK ]   GJA8 [ MEM ]
Gene Expression Viewer (FireBrowse)GJA8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2703
GTEX Portal (Tissue expression)GJA8
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48165   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48165  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48165
Splice isoforms : SwissVarP48165
PhosPhoSitePlusP48165
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin50    Connexin_CCC    Connexin_CS    Connexin_N   
Domain families : Pfam (Sanger)Connexin (PF00029)    Connexin50 (PF03509)   
Domain families : Pfam (NCBI)pfam00029    pfam03509   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
Conserved Domain (NCBI)GJA8
DMDM Disease mutations2703
Blocks (Seattle)GJA8
SuperfamilyP48165
Peptide AtlasP48165
HPRD02939
IPIIPI00220287   
Protein Interaction databases
DIP (DOE-UCLA)P48165
IntAct (EBI)P48165
BioGRIDGJA8
STRING (EMBL)GJA8
ZODIACGJA8
Ontologies - Pathways
QuickGOP48165
Ontology : AmiGOlens development in camera-type eye  gap junction channel activity  integral component of plasma membrane  connexin complex  transport  cell-cell signaling  visual perception  channel activity  protein homooligomerization  transmembrane transport  
Ontology : EGO-EBIlens development in camera-type eye  gap junction channel activity  integral component of plasma membrane  connexin complex  transport  cell-cell signaling  visual perception  channel activity  protein homooligomerization  transmembrane transport  
NDEx NetworkGJA8
Atlas of Cancer Signalling NetworkGJA8
Wikipedia pathwaysGJA8
Orthology - Evolution
OrthoDB2703
Phylogenetic Trees/Animal Genes : TreeFamGJA8
HOVERGENP48165
HOGENOMP48165
Homologs : HomoloGeneGJA8
Homology/Alignments : Family Browser (UCSC)GJA8
Gene fusions - Rearrangements
Tumor Fusion PortalGJA8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJA8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJA8
dbVarGJA8
ClinVarGJA8
1000_GenomesGJA8 
Exome Variant ServerGJA8
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP2703
Genomic Variants (DGV)GJA8 [DGVbeta]
DECIPHERGJA8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJA8 
Mutations
ICGC Data PortalGJA8 
TCGA Data PortalGJA8 
Broad Tumor PortalGJA8
OASIS PortalGJA8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJA8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJA8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch GJA8
DgiDB (Drug Gene Interaction Database)GJA8
DoCM (Curated mutations)GJA8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJA8 (select a term)
intoGenGJA8
Cancer3DGJA8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM116200    600897    612474   
Orphanet1584    14001    14002    14008    14011   
DisGeNETGJA8
MedgenGJA8
Genetic Testing Registry GJA8
NextProtP48165 [Medical]
TSGene2703
GENETestsGJA8
Target ValidationGJA8
Huge Navigator GJA8 [HugePedia]
snp3D : Map Gene to Disease2703
BioCentury BCIQGJA8
ClinGenGJA8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2703
Chemical/Pharm GKB GenePA28692
Clinical trialGJA8
Miscellaneous
canSAR (ICR)GJA8 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJA8
EVEXGJA8
GoPubMedGJA8
iHOPGJA8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:00:18 CET 2017

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