Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GJA1 (gap junction protein alpha 1)

Identity

Other namesAVSD3
CMDR
CX43
EKVP
GJAL
HLHS1
HSS
ODDD
PPKCA
HGNC (Hugo) GJA1
LocusID (NCBI) 2697
Atlas_Id 40714
Location 6q22.31  [Link to chromosome band 6q22]
Location_base_pair Starts at 121756723 and ends at 121770890 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)		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; 
GJAL; HLHS1; HSS; ODDD; PPKCA
GeneCards (Weizmann)GJA1
Ensembl hg19 (Hinxton)ENSG00000152661 [Gene_View]  chr6:121756723-121770890 [Contig_View]  GJA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000152661 [Gene_View]  chr6:121756723-121770890 [Contig_View]  GJA1 [Vega]
ICGC DataPortalENSG00000152661
TCGA cBioPortalGJA1
AceView (NCBI)GJA1
Genatlas (Paris)GJA1
WikiGenes2697
SOURCE (Princeton)GJA1
Genomic and cartography
GoldenPath hg19 (UCSC)GJA1  -     chr6:121756723-121770890 +  6q22.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GJA1  -     6q22.31   [Description]    (hg38-Dec_2013)
EnsemblGJA1 - 6q22.31 [CytoView hg19]  GJA1 - 6q22.31 [CytoView hg38]
Mapping of homologs : NCBIGJA1 [Mapview hg19]  GJA1 [Mapview hg38]
OMIM104100   121014   133200   164200   186100   218400   241550   257850   600309   
Gene and transcription
Genbank (Entrez)AK223289 AK294670 AK295460 AK297402 AK297761
RefSeq transcript (Entrez)NM_000165
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_008308 NT_025741 NW_004929328
Consensus coding sequences : CCDS (NCBI)GJA1
Cluster EST : UnigeneHs.700699 [ NCBI ]
CGAP (NCI)Hs.700699
Alternative Splicing GalleryENSG00000152661
Gene ExpressionGJA1 [ NCBI-GEO ]   GJA1 [ EBI - ARRAY_EXPRESS ]   GJA1 [ SEEK ]   GJA1 [ MEM ]
Gene Expression Viewer (FireBrowse)GJA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2697
GTEX Portal (Tissue expression)GJA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17302 (Uniprot)
NextProtP17302  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17302
Splice isoforms : SwissVarP17302 (Swissvar)
PhosPhoSitePlusP17302
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin43    Connexin43_C    Connexin_CCC    Connexin_CS    Connexin_N   
Domain families : Pfam (Sanger)Connexin (PF00029)    Connexin43 (PF03508)   
Domain families : Pfam (NCBI)pfam00029    pfam03508   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
DMDM Disease mutations2697
Blocks (Seattle)GJA1
PDB (SRS)2LL2   
PDB (PDBSum)2LL2   
PDB (IMB)2LL2   
PDB (RSDB)2LL2   
Structural Biology KnowledgeBase2LL2   
SCOP (Structural Classification of Proteins)2LL2   
CATH (Classification of proteins structures)2LL2   
SuperfamilyP17302
Human Protein AtlasENSG00000152661
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 : AmiGOGolgi membrane  osteoblast differentiation  in utero embryonic development  neuron migration  negative regulation of endothelial cell proliferation  heart looping  regulation of heart rate  epithelial cell maturation  lens development in camera-type eye  chronic inflammatory response  positive regulation of glomerular filtration  endothelium development  atrial ventricular junction remodeling  signal transducer activity  signal transducer activity  receptor binding  gap junction channel activity  protein binding  mitochondrion  mitochondrial outer membrane  lysosome  early endosome  late endosome  multivesicular body  endoplasmic reticulum membrane  Golgi apparatus  cytosol  intermediate filament  plasma membrane  plasma membrane  integral component of plasma membrane  fascia adherens  gap junction  gap junction  connexon complex  focal adhesion  transport  apoptotic process  muscle contraction  signal transduction  positive regulation of cytosolic calcium ion concentration  cell-cell signaling  heart development  adult heart development  response to pH  response to glucose  vascular transport  positive regulation of gene expression  negative regulation of gene expression  cell communication by chemical coupling  cell communication by electrical coupling  positive regulation of cell communication by chemical coupling  intercalated disc  intercalated disc  ion transmembrane transporter activity  ATP transport  gap junction assembly  apical plasma membrane  lateral plasma membrane  SH3 domain binding  PDZ domain binding  negative regulation of cell growth  regulation of bone mineralization  Golgi-associated vesicle membrane  positive regulation of insulin secretion  ion transmembrane transport  response to fluid shear stress  embryonic digit morphogenesis  positive regulation of I-kappaB kinase/NF-kappaB signaling  contractile fiber  skeletal muscle tissue regeneration  response to peptide hormone  membrane raft  positive regulation of osteoblast differentiation  positive regulation of protein catabolic process  positive regulation of striated muscle tissue development  positive regulation of vasoconstriction  positive regulation of vasodilation  regulation of bone remodeling  beta-tubulin binding  blood vessel morphogenesis  neuron projection morphogenesis  protein oligomerization  regulation of calcium ion transport  negative regulation of cardiac muscle cell proliferation  milk ejection  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of atrial cardiac muscle cell membrane depolarization  regulation of ventricular cardiac muscle cell membrane depolarization  negative regulation of wound healing  extracellular exosome  connexin binding  cellular response to mechanical 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  scaffold protein binding  gap junction channel activity involved in cell communication by electrical coupling  negative regulation of DNA biosynthetic process  regulation of bicellular tight junction assembly  positive regulation of behavioral fear response  
Ontology : EGO-EBIGolgi membrane  osteoblast differentiation  in utero embryonic development  neuron migration  negative regulation of endothelial cell proliferation  heart looping  regulation of heart rate  epithelial cell maturation  lens development in camera-type eye  chronic inflammatory response  positive regulation of glomerular filtration  endothelium development  atrial ventricular junction remodeling  signal transducer activity  signal transducer activity  receptor binding  gap junction channel activity  protein binding  mitochondrion  mitochondrial outer membrane  lysosome  early endosome  late endosome  multivesicular body  endoplasmic reticulum membrane  Golgi apparatus  cytosol  intermediate filament  plasma membrane  plasma membrane  integral component of plasma membrane  fascia adherens  gap junction  gap junction  connexon complex  focal adhesion  transport  apoptotic process  muscle contraction  signal transduction  positive regulation of cytosolic calcium ion concentration  cell-cell signaling  heart development  adult heart development  response to pH  response to glucose  vascular transport  positive regulation of gene expression  negative regulation of gene expression  cell communication by chemical coupling  cell communication by electrical coupling  positive regulation of cell communication by chemical coupling  intercalated disc  intercalated disc  ion transmembrane transporter activity  ATP transport  gap junction assembly  apical plasma membrane  lateral plasma membrane  SH3 domain binding  PDZ domain binding  negative regulation of cell growth  regulation of bone mineralization  Golgi-associated vesicle membrane  positive regulation of insulin secretion  ion transmembrane transport  response to fluid shear stress  embryonic digit morphogenesis  positive regulation of I-kappaB kinase/NF-kappaB signaling  contractile fiber  skeletal muscle tissue regeneration  response to peptide hormone  membrane raft  positive regulation of osteoblast differentiation  positive regulation of protein catabolic process  positive regulation of striated muscle tissue development  positive regulation of vasoconstriction  positive regulation of vasodilation  regulation of bone remodeling  beta-tubulin binding  blood vessel morphogenesis  neuron projection morphogenesis  protein oligomerization  regulation of calcium ion transport  negative regulation of cardiac muscle cell proliferation  milk ejection  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of atrial cardiac muscle cell membrane depolarization  regulation of ventricular cardiac muscle cell membrane depolarization  negative regulation of wound healing  extracellular exosome  connexin binding  cellular response to mechanical 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  scaffold protein binding  gap junction channel activity involved in cell communication by electrical coupling  negative regulation of DNA biosynthetic process  regulation of bicellular tight junction assembly  positive regulation of behavioral fear response  
Pathways : BIOCARTAInactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages [Genes]   
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
Homologs : HomoloGeneGJA1
Homology/Alignments : Family Browser (UCSC)GJA1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGJA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJA1
dbVarGJA1
ClinVarGJA1
1000_GenomesGJA1 
Exome Variant ServerGJA1
ExAC (Exome Aggregation Consortium)GJA1 (select the gene name)
Genetic variants : HAPMAP2697
Genomic Variants (DGV)GJA1 [DGVbeta]
Mutations
ICGC Data PortalGJA1 
TCGA Data PortalGJA1 
Broad Tumor PortalGJA1
OASIS PortalGJA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJA1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:121756723-121770890  ENSG00000152661
CONAN: Copy Number AnalysisGJA1 
Mutations and Diseases : HGMDGJA1
OMIM104100    121014    133200    164200    186100    218400    241550    257850    600309   
MedgenGJA1
Genetic Testing Registry GJA1
NextProtP17302 [Medical]
TSGene2697
GENETestsGJA1
Huge Navigator GJA1 [HugePedia]
snp3D : Map Gene to Disease2697
BioCentury BCIQGJA1
ClinGenGJA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2697
Chemical/Pharm GKB GenePA28685
Clinical trialGJA1
Miscellaneous
canSAR (ICR)GJA1 (select the gene name)
Probes
Litterature
PubMed435 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJA1
EVEXGJA1
GoPubMedGJA1
iHOPGJA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 18:50:55 CEST 2016
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