Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GJC1 (gap junction protein gamma 1)

Identity

Alias (NCBI)CX45
GJA7
HGNC (Hugo) GJC1
HGNC Alias symbCX45
HGNC Alias nameconnexin 45
HGNC Previous nameGJA7
HGNC Previous namegap junction protein, alpha 7, 45kDa
 gap junction protein, gamma 1, 45kDa
LocusID (NCBI) 10052
Atlas_Id 43640
Location 17q21.31  [Link to chromosome band 17q21]
Location_base_pair Starts at 44798448 and ends at 44830287 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)
GJC1 (17q21.31) / HSPB1 (7q11.23)

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)GJC1   4280
Cards
Entrez_Gene (NCBI)GJC1  10052  gap junction protein gamma 1
AliasesCX45; GJA7
GeneCards (Weizmann)GJC1
Ensembl hg19 (Hinxton)ENSG00000182963 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182963 [Gene_View]  ENSG00000182963 [Sequence]  chr17:44798448-44830287 [Contig_View]  GJC1 [Vega]
ICGC DataPortalENSG00000182963
TCGA cBioPortalGJC1
AceView (NCBI)GJC1
Genatlas (Paris)GJC1
WikiGenes10052
SOURCE (Princeton)GJC1
Genetics Home Reference (NIH)GJC1
Genomic and cartography
GoldenPath hg38 (UCSC)GJC1  -     chr17:44798448-44830287 -  17q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJC1  -     17q21.31   [Description]    (hg19-Feb_2009)
GoldenPathGJC1 - 17q21.31 [CytoView hg19]  GJC1 - 17q21.31 [CytoView hg38]
ImmunoBaseENSG00000182963
genome Data Viewer NCBIGJC1 [Mapview hg19]  
OMIM608655   
Gene and transcription
Genbank (Entrez)AK098274 AK124339 BC096213 BC096214 BC096215
RefSeq transcript (Entrez)NM_001080383 NM_005497
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJC1
Alternative Splicing GalleryENSG00000182963
Gene ExpressionGJC1 [ NCBI-GEO ]   GJC1 [ EBI - ARRAY_EXPRESS ]   GJC1 [ SEEK ]   GJC1 [ MEM ]
Gene Expression Viewer (FireBrowse)GJC1 [ Firebrowse - Broad ]
GenevisibleExpression of GJC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10052
GTEX Portal (Tissue expression)GJC1
Human Protein AtlasENSG00000182963-GJC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36383   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP36383  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP36383
Splice isoforms : SwissVarP36383
PhosPhoSitePlusP36383
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin45    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)GJC1
DMDM Disease mutations10052
Blocks (Seattle)GJC1
PDB (RSDB)3SHW   
PDB Europe3SHW   
PDB (PDBSum)3SHW   
PDB (IMB)3SHW   
Structural Biology KnowledgeBase3SHW   
SCOP (Structural Classification of Proteins)3SHW   
CATH (Classification of proteins structures)3SHW   
SuperfamilyP36383
Human Protein Atlas [tissue]ENSG00000182963-GJC1 [tissue]
Peptide AtlasP36383
HPRD08819
IPIIPI00002946   
Protein Interaction databases
DIP (DOE-UCLA)P36383
IntAct (EBI)P36383
FunCoupENSG00000182963
BioGRIDGJC1
STRING (EMBL)GJC1
ZODIACGJC1
Ontologies - Pathways
QuickGOP36383
Ontology : AmiGOvasculogenesis  ion channel activity  gap junction channel activity  endoplasmic reticulum membrane  plasma membrane  gap junction  connexin complex  connexin complex  muscle contraction  cell-cell junction assembly  cell-cell signaling  chemical synaptic transmission  visual perception  intercalated disc  integral component of membrane  gap junction assembly  gap junction assembly  ion transmembrane transport  synapse  cell development  cardiac muscle tissue development  atrial cardiac muscle 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  AV node cell to bundle of His cell communication by electrical coupling  gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling  
Ontology : EGO-EBIvasculogenesis  ion channel activity  gap junction channel activity  endoplasmic reticulum membrane  plasma membrane  gap junction  connexin complex  connexin complex  muscle contraction  cell-cell junction assembly  cell-cell signaling  chemical synaptic transmission  visual perception  intercalated disc  integral component of membrane  gap junction assembly  gap junction assembly  ion transmembrane transport  synapse  cell development  cardiac muscle tissue development  atrial cardiac muscle 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  AV node cell to bundle of His cell communication by electrical coupling  gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling  
NDEx NetworkGJC1
Atlas of Cancer Signalling NetworkGJC1
Wikipedia pathwaysGJC1
Orthology - Evolution
OrthoDB10052
GeneTree (enSembl)ENSG00000182963
Phylogenetic Trees/Animal Genes : TreeFamGJC1
HOGENOMP36383
Homologs : HomoloGeneGJC1
Homology/Alignments : Family Browser (UCSC)GJC1
Gene fusions - Rearrangements
Fusion : QuiverGJC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJC1
dbVarGJC1
ClinVarGJC1
1000_GenomesGJC1 
Exome Variant ServerGJC1
GNOMAD BrowserENSG00000182963
Varsome BrowserGJC1
Genetic variants : HAPMAP10052
Genomic Variants (DGV)GJC1 [DGVbeta]
DECIPHERGJC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJC1 
Mutations
ICGC Data PortalGJC1 
TCGA Data PortalGJC1 
Broad Tumor PortalGJC1
OASIS PortalGJC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGJC1
Mutations and Diseases : HGMDGJC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GJC1
DgiDB (Drug Gene Interaction Database)GJC1
DoCM (Curated mutations)GJC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJC1 (select a term)
intoGenGJC1
Cancer3DGJC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608655   
Orphanet
DisGeNETGJC1
MedgenGJC1
Genetic Testing Registry GJC1
NextProtP36383 [Medical]
TSGene10052
GENETestsGJC1
Target ValidationGJC1
Huge Navigator GJC1 [HugePedia]
snp3D : Map Gene to Disease10052
BioCentury BCIQGJC1
ClinGenGJC1
Clinical trials, drugs, therapy
Protein Interactions : CTD10052
Pharm GKB GenePA164741588
Clinical trialGJC1
Miscellaneous
canSAR (ICR)GJC1 (select the gene name)
HarmonizomeGJC1
DataMed IndexGJC1
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJC1
EVEXGJC1
GoPubMedGJC1
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 : Thu Jul 16 15:14:52 CEST 2020
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