Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GJA4 (gap junction protein alpha 4)

Identity

Alias_namesgap junction protein, alpha 4, 37kD (connexin 37)
gap junction protein, alpha 4, 37kDa (connexin 37)
gap junction protein, alpha 4, 37kDa
Alias_symbol (synonym)CX37
Other alias
HGNC (Hugo) GJA4
LocusID (NCBI) 2701
Atlas_Id 40715
Location 1p34.3  [Link to chromosome band 1p34]
Location_base_pair Starts at 34792999 and ends at 34795747 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)
GJA4 (1p34.3) / ACOX1 (17q25.1)

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)GJA4   4278
Cards
Entrez_Gene (NCBI)GJA4  2701  gap junction protein alpha 4
AliasesCX37
GeneCards (Weizmann)GJA4
Ensembl hg19 (Hinxton)ENSG00000187513 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187513 [Gene_View]  ENSG00000187513 [Sequence]  chr1:34792999-34795747 [Contig_View]  GJA4 [Vega]
ICGC DataPortalENSG00000187513
TCGA cBioPortalGJA4
AceView (NCBI)GJA4
Genatlas (Paris)GJA4
WikiGenes2701
SOURCE (Princeton)GJA4
Genetics Home Reference (NIH)GJA4
Genomic and cartography
GoldenPath hg38 (UCSC)GJA4  -     chr1:34792999-34795747 +  1p34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJA4  -     1p34.3   [Description]    (hg19-Feb_2009)
GoldenPathGJA4 - 1p34.3 [CytoView hg19]  GJA4 - 1p34.3 [CytoView hg38]
Genome Data Viewer NCBIGJA4 [Mapview hg19]  
OMIM121012   
Gene and transcription
Genbank (Entrez)AF180815 AF181620 AK291563 AK310985 AK313477
RefSeq transcript (Entrez)NM_002060
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJA4
Alternative Splicing GalleryENSG00000187513
Gene ExpressionGJA4 [ NCBI-GEO ]   GJA4 [ EBI - ARRAY_EXPRESS ]   GJA4 [ SEEK ]   GJA4 [ MEM ]
Gene Expression Viewer (FireBrowse)GJA4 [ Firebrowse - Broad ]
GenevisibleExpression of GJA4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2701
GTEX Portal (Tissue expression)GJA4
Human Protein AtlasENSG00000187513-GJA4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35212   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35212  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35212
Splice isoforms : SwissVarP35212
PhosPhoSitePlusP35212
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin37    Connexin_CCC    Connexin_CS    Connexin_N    Connexin_N_sf   
Domain families : Pfam (Sanger)Connexin (PF00029)   
Domain families : Pfam (NCBI)pfam00029   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
Conserved Domain (NCBI)GJA4
DMDM Disease mutations2701
SuperfamilyP35212
Human Protein Atlas [tissue]ENSG00000187513-GJA4 [tissue]
Peptide AtlasP35212
HPRD08509
IPIIPI00219023   IPI00874136   IPI00643147   
Protein Interaction databases
DIP (DOE-UCLA)P35212
IntAct (EBI)P35212
FunCoupENSG00000187513
BioGRIDGJA4
STRING (EMBL)GJA4
ZODIACGJA4
Ontologies - Pathways
QuickGOP35212
Ontology : AmiGOblood vessel development  endothelium development  gap junction channel activity  protein binding  integral component of plasma membrane  gap junction  connexin complex  calcium ion transport  cell-cell junction assembly  cell-cell signaling  response to pain  transmembrane transport  
Ontology : EGO-EBIblood vessel development  endothelium development  gap junction channel activity  protein binding  integral component of plasma membrane  gap junction  connexin complex  calcium ion transport  cell-cell junction assembly  cell-cell signaling  response to pain  transmembrane transport  
NDEx NetworkGJA4
Atlas of Cancer Signalling NetworkGJA4
Wikipedia pathwaysGJA4
Orthology - Evolution
OrthoDB2701
GeneTree (enSembl)ENSG00000187513
Phylogenetic Trees/Animal Genes : TreeFamGJA4
HOGENOMP35212
Homologs : HomoloGeneGJA4
Homology/Alignments : Family Browser (UCSC)GJA4
Gene fusions - Rearrangements
Fusion : QuiverGJA4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJA4
dbVarGJA4
ClinVarGJA4
1000_GenomesGJA4 
Exome Variant ServerGJA4
GNOMAD BrowserENSG00000187513
Varsome BrowserGJA4
Genetic variants : HAPMAP2701
Genomic Variants (DGV)GJA4 [DGVbeta]
DECIPHERGJA4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJA4 
Mutations
ICGC Data PortalGJA4 
TCGA Data PortalGJA4 
Broad Tumor PortalGJA4
OASIS PortalGJA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJA4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGJA4
Mutations and Diseases : HGMDGJA4
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
BioMutaselect GJA4
DgiDB (Drug Gene Interaction Database)GJA4
DoCM (Curated mutations)GJA4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJA4 (select a term)
intoGenGJA4
Cancer3DGJA4 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM121012   
Orphanet
DisGeNETGJA4
MedgenGJA4
Genetic Testing Registry GJA4
NextProtP35212 [Medical]
TSGene2701
GENETestsGJA4
Open Targets GeneticsENSG00000187513  [validation]
snp3D : Map Gene to Disease2701
BioCentury BCIQGJA4
ClinGenGJA4
Clinical trials, drugs, therapy
Protein Interactions : CTD2701
Pharm GKB GenePA28689
Clinical trialGJA4
Miscellaneous
canSAR (ICR)GJA4 (select the gene name)
HarmonizomeGJA4
DataMed IndexGJA4
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJA4
EVEXGJA4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 19:50:19 CEST 2020
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