Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GJA5 (gap junction protein alpha 5)

Identity

Alias_namesgap junction protein, alpha 5, 40kD (connexin 40)
gap junction protein, alpha 5, 40kDa (connexin 40)
gap junction protein, alpha 5, 40kDa
Alias_symbol (synonym)CX40
Other aliasATFB11
HGNC (Hugo) GJA5
LocusID (NCBI) 2702
Atlas_Id 56514
Location 1q21.2  [Link to chromosome band 1q21]
Location_base_pair Starts at 147756199 and ends at 147773362 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATF6 (1q23.3) / GJA5 (1q21.2)GJA5 (1q21.2) / GJA5 (1q21.2)

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)GJA5   4279
Cards
Entrez_Gene (NCBI)GJA5  2702  gap junction protein alpha 5
AliasesATFB11; CX40
GeneCards (Weizmann)GJA5
Ensembl hg19 (Hinxton)ENSG00000265107 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000265107 [Gene_View]  chr1:147756199-147773362 [Contig_View]  GJA5 [Vega]
ICGC DataPortalENSG00000265107
TCGA cBioPortalGJA5
AceView (NCBI)GJA5
Genatlas (Paris)GJA5
WikiGenes2702
SOURCE (Princeton)GJA5
Genetics Home Reference (NIH)GJA5
Genomic and cartography
GoldenPath hg38 (UCSC)GJA5  -     chr1:147756199-147773362 -  1q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJA5  -     1q21.2   [Description]    (hg19-Feb_2009)
EnsemblGJA5 - 1q21.2 [CytoView hg19]  GJA5 - 1q21.2 [CytoView hg38]
Mapping of homologs : NCBIGJA5 [Mapview hg19]  GJA5 [Mapview hg38]
OMIM108770   121013   612474   614049   
Gene and transcription
Genbank (Entrez)AF074995 BC013313 BM970701 BQ231177 BQ924948
RefSeq transcript (Entrez)NM_005266 NM_181703
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJA5
Cluster EST : UnigeneHs.447968 [ NCBI ]
CGAP (NCI)Hs.447968
Alternative Splicing GalleryENSG00000265107
Gene ExpressionGJA5 [ NCBI-GEO ]   GJA5 [ EBI - ARRAY_EXPRESS ]   GJA5 [ SEEK ]   GJA5 [ MEM ]
Gene Expression Viewer (FireBrowse)GJA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2702
GTEX Portal (Tissue expression)GJA5
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36382   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP36382  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP36382
Splice isoforms : SwissVarP36382
PhosPhoSitePlusP36382
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin40    Connexin_CCC    Connexin_CS    Connexin_N    Cx40_C   
Domain families : Pfam (Sanger)Connexin (PF00029)    Connexin40_C (PF16791)   
Domain families : Pfam (NCBI)pfam00029    pfam16791   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
Conserved Domain (NCBI)GJA5
DMDM Disease mutations2702
Blocks (Seattle)GJA5
SuperfamilyP36382
Human Protein AtlasENSG00000265107
Peptide AtlasP36382
HPRD08699
IPIIPI00217262   IPI00641468   
Protein Interaction databases
DIP (DOE-UCLA)P36382
IntAct (EBI)P36382
FunCoupENSG00000265107
BioGRIDGJA5
STRING (EMBL)GJA5
ZODIACGJA5
Ontologies - Pathways
QuickGOP36382
Ontology : AmiGOskeletal system development  angiogenesis  negative regulation of glomerular filtration  outflow tract morphogenesis  endothelium development  cardiac conduction system development  mitral valve development  pulmonary valve formation  ventricular septum development  atrial septum development  septum primum development  atrial ventricular junction remodeling  integral component of plasma membrane  gap junction  connexin complex  connexin complex  potassium ion transport  cell communication by chemical coupling  positive regulation of cell communication by chemical coupling  intercalated disc  intercalated disc  gap junction assembly  gap junction assembly  embryonic limb morphogenesis  embryonic heart tube development  foramen ovale closure  cell projection  negative regulation of blood pressure  positive regulation of vasoconstriction  artery morphogenesis  protein oligomerization  gap junction hemi-channel activity  transmembrane transport  regulation of cardiac muscle contraction  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of atrial cardiac muscle cell membrane depolarization  regulation of ventricular cardiac muscle cell membrane depolarization  ventricular septum morphogenesis  atrial septum morphogenesis  connexin binding  ventricular cardiac muscle cell action potential  SA node cell action potential  gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling  SA node cell to atrial cardiac muscle cell communication by electrical coupling  atrial cardiac muscle cell to AV node cell communication by electrical coupling  atrial cardiac muscle cell to AV node cell communication by electrical coupling  AV node cell to bundle of His cell communication by electrical coupling  bundle of His cell to Purkinje myocyte communication by electrical coupling  Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling  cell communication by electrical coupling involved in cardiac conduction  gap junction channel activity involved in cardiac conduction electrical coupling  gap junction channel activity involved in cardiac conduction electrical coupling  gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling  gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling  gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling  gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling  gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling  regulation of heart rate by cardiac conduction  disordered domain specific binding  positive regulation of blood vessel diameter  regulation of AV node cell action potential  regulation of bundle of His cell action potential  regulation of Purkinje myocyte action potential  regulation of atrial cardiac muscle cell action potential  regulation of renin secretion into blood stream  regulation of membrane depolarization during cardiac muscle cell action potential  vasomotion  
Ontology : EGO-EBIskeletal system development  angiogenesis  negative regulation of glomerular filtration  outflow tract morphogenesis  endothelium development  cardiac conduction system development  mitral valve development  pulmonary valve formation  ventricular septum development  atrial septum development  septum primum development  atrial ventricular junction remodeling  integral component of plasma membrane  gap junction  connexin complex  connexin complex  potassium ion transport  cell communication by chemical coupling  positive regulation of cell communication by chemical coupling  intercalated disc  intercalated disc  gap junction assembly  gap junction assembly  embryonic limb morphogenesis  embryonic heart tube development  foramen ovale closure  cell projection  negative regulation of blood pressure  positive regulation of vasoconstriction  artery morphogenesis  protein oligomerization  gap junction hemi-channel activity  transmembrane transport  regulation of cardiac muscle contraction  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of atrial cardiac muscle cell membrane depolarization  regulation of ventricular cardiac muscle cell membrane depolarization  ventricular septum morphogenesis  atrial septum morphogenesis  connexin binding  ventricular cardiac muscle cell action potential  SA node cell action potential  gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling  SA node cell to atrial cardiac muscle cell communication by electrical coupling  atrial cardiac muscle cell to AV node cell communication by electrical coupling  atrial cardiac muscle cell to AV node cell communication by electrical coupling  AV node cell to bundle of His cell communication by electrical coupling  bundle of His cell to Purkinje myocyte communication by electrical coupling  Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling  cell communication by electrical coupling involved in cardiac conduction  gap junction channel activity involved in cardiac conduction electrical coupling  gap junction channel activity involved in cardiac conduction electrical coupling  gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling  gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling  gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling  gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling  gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling  regulation of heart rate by cardiac conduction  disordered domain specific binding  positive regulation of blood vessel diameter  regulation of AV node cell action potential  regulation of bundle of His cell action potential  regulation of Purkinje myocyte action potential  regulation of atrial cardiac muscle cell action potential  regulation of renin secretion into blood stream  regulation of membrane depolarization during cardiac muscle cell action potential  vasomotion  
NDEx NetworkGJA5
Atlas of Cancer Signalling NetworkGJA5
Wikipedia pathwaysGJA5
Orthology - Evolution
OrthoDB2702
GeneTree (enSembl)ENSG00000265107
Phylogenetic Trees/Animal Genes : TreeFamGJA5
HOVERGENP36382
HOGENOMP36382
Homologs : HomoloGeneGJA5
Homology/Alignments : Family Browser (UCSC)GJA5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJA5
dbVarGJA5
ClinVarGJA5
1000_GenomesGJA5 
Exome Variant ServerGJA5
ExAC (Exome Aggregation Consortium)GJA5 (select the gene name)
Genetic variants : HAPMAP2702
Genomic Variants (DGV)GJA5 [DGVbeta]
DECIPHERGJA5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJA5 
Mutations
ICGC Data PortalGJA5 
TCGA Data PortalGJA5 
Broad Tumor PortalGJA5
OASIS PortalGJA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJA5
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch GJA5
DgiDB (Drug Gene Interaction Database)GJA5
DoCM (Curated mutations)GJA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJA5 (select a term)
intoGenGJA5
Cancer3DGJA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM108770    121013    612474    614049   
Orphanet820    8592   
MedgenGJA5
Genetic Testing Registry GJA5
NextProtP36382 [Medical]
TSGene2702
GENETestsGJA5
Target ValidationGJA5
Huge Navigator GJA5 [HugePedia]
snp3D : Map Gene to Disease2702
BioCentury BCIQGJA5
ClinGenGJA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2702
Chemical/Pharm GKB GenePA28690
Clinical trialGJA5
Miscellaneous
canSAR (ICR)GJA5 (select the gene name)
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJA5
EVEXGJA5
GoPubMedGJA5
iHOPGJA5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:09:52 CEST 2017

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