Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GJA1 (gap junction protein alpha 1)

Identity

Alias (NCBI)AVSD3
CMDR
CX43
EKVP
EKVP3
GJAL
HLHS1
HSS
ODDD
PPKCA
HGNC (Hugo) GJA1
HGNC Alias symbCX43
ODD
ODOD
SDTY3
HGNC Alias nameoculodentodigital dysplasia (syndactyly type III)
 connexin 43
HGNC Previous nameODDD
 GJAL
HGNC Previous namegap junction protein, alpha-like
 gap junction protein, alpha 1, 43kDa (connexin 43)
 gap junction protein, alpha 1, 43kDa
LocusID (NCBI) 2697
Atlas_Id 40714
Location 6q22.31  [Link to chromosome band 6q22]
Location_base_pair Starts at 121435646 and ends at 121449727 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)
GJA1 (6q22.31) / TELO2 (16p13.3)STT3A (11q24.2) / GJA1 (6q22.31)YWHAB (20q13.12) / GJA1 (6q22.31)

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)GJA1   4274
Cards
Entrez_Gene (NCBI)GJA1  2697  gap junction protein alpha 1
AliasesAVSD3; CMDR; CX43; EKVP; 
EKVP3; GJAL; HLHS1; HSS; ODDD; PPKCA
GeneCards (Weizmann)GJA1
Ensembl hg19 (Hinxton)ENSG00000152661 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152661 [Gene_View]  ENSG00000152661 [Sequence]  chr6:121435646-121449727 [Contig_View]  GJA1 [Vega]
ICGC DataPortalENSG00000152661
TCGA cBioPortalGJA1
AceView (NCBI)GJA1
Genatlas (Paris)GJA1
WikiGenes2697
SOURCE (Princeton)GJA1
Genetics Home Reference (NIH)GJA1
Genomic and cartography
GoldenPath hg38 (UCSC)GJA1  -     chr6:121435646-121449727 +  6q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJA1  -     6q22.31   [Description]    (hg19-Feb_2009)
GoldenPathGJA1 - 6q22.31 [CytoView hg19]  GJA1 - 6q22.31 [CytoView hg38]
ImmunoBaseENSG00000152661
genome Data Viewer NCBIGJA1 [Mapview hg19]  
OMIM104100   121014   164200   186100   218400   241550   257850   600309   617525   
Gene and transcription
Genbank (Entrez)AK223289 AK294670 AK295460 AK297402 AK297761
RefSeq transcript (Entrez)NM_000165
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJA1
Alternative Splicing GalleryENSG00000152661
Gene ExpressionGJA1 [ NCBI-GEO ]   GJA1 [ EBI - ARRAY_EXPRESS ]   GJA1 [ SEEK ]   GJA1 [ MEM ]
Gene Expression Viewer (FireBrowse)GJA1 [ Firebrowse - Broad ]
GenevisibleExpression of GJA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2697
GTEX Portal (Tissue expression)GJA1
Human Protein AtlasENSG00000152661-GJA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17302   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17302  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17302
Splice isoforms : SwissVarP17302
PhosPhoSitePlusP17302
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Alpha_helix_dom_sf    Connexin    Connexin43    Connexin43_C    Connexin_C    Connexin_CCC    Connexin_CS    Connexin_N    Connexin_N_sf   
Domain families : Pfam (Sanger)Connexin (PF00029)    Connexin43 (PF03508)   
Domain families : Pfam (NCBI)pfam00029    pfam03508   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
Conserved Domain (NCBI)GJA1
DMDM Disease mutations2697
Blocks (Seattle)GJA1
PDB (RSDB)2LL2   
PDB Europe2LL2   
PDB (PDBSum)2LL2   
PDB (IMB)2LL2   
Structural Biology KnowledgeBase2LL2   
SCOP (Structural Classification of Proteins)2LL2   
CATH (Classification of proteins structures)2LL2   
SuperfamilyP17302
Human Protein Atlas [tissue]ENSG00000152661-GJA1 [tissue]
Peptide AtlasP17302
HPRD00414
IPIIPI00218487   IPI00940619   
Protein Interaction databases
DIP (DOE-UCLA)P17302
IntAct (EBI)P17302
FunCoupENSG00000152661
BioGRIDGJA1
STRING (EMBL)GJA1
ZODIACGJA1
Ontologies - Pathways
QuickGOP17302
Ontology : AmiGOestablishment of mitotic spindle orientation  Golgi membrane  negative regulation of endothelial cell proliferation  chronic inflammatory response  response to ischemia  positive regulation of glomerular filtration  endothelium development  gap junction channel activity  gap junction channel activity  protein binding  nucleoplasm  cytoplasm  mitochondrion  mitochondrial outer membrane  lysosome  early endosome  multivesicular body  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  fascia adherens  gap junction  gap junction  connexin complex  connexin complex  focal adhesion  apoptotic process  signal transduction  positive regulation of cytosolic calcium ion concentration  cell-cell signaling  cell-cell signaling  spermatogenesis  heart development  beta-catenin binding  response to pH  response to glucose  vascular transport  positive regulation of gene expression  cell communication by electrical coupling  regulation of cell communication by electrical coupling  positive regulation of cell communication by chemical coupling  glutamate secretion  intercalated disc  intercalated disc  ion transmembrane transporter activity  efflux transmembrane transporter activity  tubulin binding  ATP transport  gap junction assembly  apical plasma membrane  SH3 domain binding  regulation of transmembrane transporter activity  cell junction  PDZ domain binding  negative regulation of cell growth  Golgi-associated vesicle membrane  positive regulation of insulin secretion  negative regulation of gonadotropin secretion  response to estradiol  response to lipopolysaccharide  response to retinoic acid  ion transmembrane transport  response to fluid shear stress  cellular protein localization  glutathione transmembrane transporter activity  glutathione transmembrane transport  maintenance of protein localization in endoplasmic reticulum  maintenance of permeability of blood-brain barrier  regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  intracellular membrane-bounded organelle  response to peptide hormone  cell-cell contact zone  membrane raft  positive regulation of protein catabolic process  positive regulation of vasoconstriction  decidualization  bone remodeling  neuron projection morphogenesis  regulation of calcium ion transport  gap junction hemi-channel activity  negative regulation of cardiac muscle cell proliferation  bone development  negative regulation of wound healing  tight junction  connexin binding  cellular response to mechanical stimulus  cellular response to parathyroid hormone stimulus  atrial cardiac muscle cell action potential  cell communication by electrical coupling involved in cardiac conduction  gap junction channel activity involved in cardiac conduction electrical coupling  disordered domain specific binding  positive regulation of blood vessel diameter  positive regulation of cold-induced thermogenesis  export across plasma membrane  negative regulation of trophoblast cell migration  gap junction channel activity involved in cell communication by electrical coupling  cellular response to amyloid-beta  positive regulation of vascular smooth muscle cell proliferation  positive regulation of morphogenesis of an epithelium  positive regulation of mesodermal cell differentiation  epididymis development  negative regulation of DNA biosynthetic process  positive regulation of stem cell proliferation  regulation of bicellular tight junction assembly  positive regulation of behavioral fear response  
Ontology : EGO-EBIestablishment of mitotic spindle orientation  Golgi membrane  negative regulation of endothelial cell proliferation  chronic inflammatory response  response to ischemia  positive regulation of glomerular filtration  endothelium development  gap junction channel activity  gap junction channel activity  protein binding  nucleoplasm  cytoplasm  mitochondrion  mitochondrial outer membrane  lysosome  early endosome  multivesicular body  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  fascia adherens  gap junction  gap junction  connexin complex  connexin complex  focal adhesion  apoptotic process  signal transduction  positive regulation of cytosolic calcium ion concentration  cell-cell signaling  cell-cell signaling  spermatogenesis  heart development  beta-catenin binding  response to pH  response to glucose  vascular transport  positive regulation of gene expression  cell communication by electrical coupling  regulation of cell communication by electrical coupling  positive regulation of cell communication by chemical coupling  glutamate secretion  intercalated disc  intercalated disc  ion transmembrane transporter activity  efflux transmembrane transporter activity  tubulin binding  ATP transport  gap junction assembly  apical plasma membrane  SH3 domain binding  regulation of transmembrane transporter activity  cell junction  PDZ domain binding  negative regulation of cell growth  Golgi-associated vesicle membrane  positive regulation of insulin secretion  negative regulation of gonadotropin secretion  response to estradiol  response to lipopolysaccharide  response to retinoic acid  ion transmembrane transport  response to fluid shear stress  cellular protein localization  glutathione transmembrane transporter activity  glutathione transmembrane transport  maintenance of protein localization in endoplasmic reticulum  maintenance of permeability of blood-brain barrier  regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  intracellular membrane-bounded organelle  response to peptide hormone  cell-cell contact zone  membrane raft  positive regulation of protein catabolic process  positive regulation of vasoconstriction  decidualization  bone remodeling  neuron projection morphogenesis  regulation of calcium ion transport  gap junction hemi-channel activity  negative regulation of cardiac muscle cell proliferation  bone development  negative regulation of wound healing  tight junction  connexin binding  cellular response to mechanical stimulus  cellular response to parathyroid hormone stimulus  atrial cardiac muscle cell action potential  cell communication by electrical coupling involved in cardiac conduction  gap junction channel activity involved in cardiac conduction electrical coupling  disordered domain specific binding  positive regulation of blood vessel diameter  positive regulation of cold-induced thermogenesis  export across plasma membrane  negative regulation of trophoblast cell migration  gap junction channel activity involved in cell communication by electrical coupling  cellular response to amyloid-beta  positive regulation of vascular smooth muscle cell proliferation  positive regulation of morphogenesis of an epithelium  positive regulation of mesodermal cell differentiation  epididymis development  negative regulation of DNA biosynthetic process  positive regulation of stem cell proliferation  regulation of bicellular tight junction assembly  positive regulation of behavioral fear response  
Pathways : KEGGGap junction    Arrhythmogenic right ventricular cardiomyopathy (ARVC)   
NDEx NetworkGJA1
Atlas of Cancer Signalling NetworkGJA1
Wikipedia pathwaysGJA1
Orthology - Evolution
OrthoDB2697
GeneTree (enSembl)ENSG00000152661
Phylogenetic Trees/Animal Genes : TreeFamGJA1
HOGENOMP17302
Homologs : HomoloGeneGJA1
Homology/Alignments : Family Browser (UCSC)GJA1
Gene fusions - Rearrangements
Fusion : QuiverGJA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJA1
dbVarGJA1
ClinVarGJA1
MonarchGJA1
1000_GenomesGJA1 
Exome Variant ServerGJA1
GNOMAD BrowserENSG00000152661
Varsome BrowserGJA1
Genetic variants : HAPMAP2697
Genomic Variants (DGV)GJA1 [DGVbeta]
DECIPHERGJA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJA1 
Mutations
ICGC Data PortalGJA1 
TCGA Data PortalGJA1 
Broad Tumor PortalGJA1
OASIS PortalGJA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGJA1
Mutations and Diseases : HGMDGJA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GJA1
DgiDB (Drug Gene Interaction Database)GJA1
DoCM (Curated mutations)GJA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJA1 (select a term)
intoGenGJA1
Cancer3DGJA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM104100    121014    164200    186100    218400    241550    257850    600309    617525   
Orphanet511    1323    1689    2471    7023    12047    12326   
DisGeNETGJA1
MedgenGJA1
Genetic Testing Registry GJA1
NextProtP17302 [Medical]
TSGene2697
GENETestsGJA1
Target ValidationGJA1
Huge Navigator GJA1 [HugePedia]
snp3D : Map Gene to Disease2697
BioCentury BCIQGJA1
ClinGenGJA1 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTD2697
Pharm GKB GenePA28685
Clinical trialGJA1
Miscellaneous
canSAR (ICR)GJA1 (select the gene name)
HarmonizomeGJA1
DataMed IndexGJA1
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJA1
EVEXGJA1
GoPubMedGJA1
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 14 14:12:42 CEST 2020
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