Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GJC2 (gap junction protein gamma 2)

Identity

Alias_namesGJA12
gap junction protein, alpha 12, 47kDa
gap junction protein, gamma 2, 47kDa
Alias_symbol (synonym)CX47
CX46.6
SPG44
Other aliasCx47
HLD2
LMPH1C
PMLDAR
HGNC (Hugo) GJC2
LocusID (NCBI) 57165
Atlas_Id 52865
Location 1q42.13  [Link to chromosome band 1q42]
Location_base_pair Starts at 228149714 and ends at 228159826 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)

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)GJC2   17494
Cards
Entrez_Gene (NCBI)GJC2  57165  gap junction protein gamma 2
AliasesCX46.6; Cx47; GJA12; HLD2; 
LMPH1C; PMLDAR; SPG44
GeneCards (Weizmann)GJC2
Ensembl hg19 (Hinxton)ENSG00000198835 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198835 [Gene_View]  ENSG00000198835 [Sequence]  chr1:228149714-228159826 [Contig_View]  GJC2 [Vega]
ICGC DataPortalENSG00000198835
TCGA cBioPortalGJC2
AceView (NCBI)GJC2
Genatlas (Paris)GJC2
WikiGenes57165
SOURCE (Princeton)GJC2
Genetics Home Reference (NIH)GJC2
Genomic and cartography
GoldenPath hg38 (UCSC)GJC2  -     chr1:228149714-228159826 +  1q42.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJC2  -     1q42.13   [Description]    (hg19-Feb_2009)
EnsemblGJC2 - 1q42.13 [CytoView hg19]  GJC2 - 1q42.13 [CytoView hg38]
Mapping of homologs : NCBIGJC2 [Mapview hg19]  GJC2 [Mapview hg38]
OMIM608803   608804   613206   613480   
Gene and transcription
Genbank (Entrez)AY285161 BC035840 BC089439 BU739494 CF132637
RefSeq transcript (Entrez)NM_020435
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJC2
Cluster EST : UnigeneHs.743715 [ NCBI ]
CGAP (NCI)Hs.743715
Alternative Splicing GalleryENSG00000198835
Gene ExpressionGJC2 [ NCBI-GEO ]   GJC2 [ EBI - ARRAY_EXPRESS ]   GJC2 [ SEEK ]   GJC2 [ MEM ]
Gene Expression Viewer (FireBrowse)GJC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57165
GTEX Portal (Tissue expression)GJC2
Human Protein AtlasENSG00000198835-GJC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T442   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T442  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T442
Splice isoforms : SwissVarQ5T442
PhosPhoSitePlusQ5T442
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    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)GJC2
DMDM Disease mutations57165
Blocks (Seattle)GJC2
SuperfamilyQ5T442
Human Protein Atlas [tissue]ENSG00000198835-GJC2 [tissue]
Peptide AtlasQ5T442
HPRD10582
IPIIPI00007029   
Protein Interaction databases
DIP (DOE-UCLA)Q5T442
IntAct (EBI)Q5T442
FunCoupENSG00000198835
BioGRIDGJC2
STRING (EMBL)GJC2
ZODIACGJC2
Ontologies - Pathways
QuickGOQ5T442
Ontology : AmiGOregulation of protein phosphorylation  gap junction  connexin complex  cell-cell signaling  brain development  response to toxic substance  positive regulation of gene expression  cell communication by electrical coupling  integral component of membrane  paranode region of axon  perikaryon  myelin sheath  transmembrane transport  positive regulation of oligodendrocyte progenitor proliferation  gap junction channel activity involved in cell communication by electrical coupling  positive regulation of calcium ion transmembrane transport  proximal neuron projection  negative regulation of G1/S transition of mitotic cell cycle  
Ontology : EGO-EBIregulation of protein phosphorylation  gap junction  connexin complex  cell-cell signaling  brain development  response to toxic substance  positive regulation of gene expression  cell communication by electrical coupling  integral component of membrane  paranode region of axon  perikaryon  myelin sheath  transmembrane transport  positive regulation of oligodendrocyte progenitor proliferation  gap junction channel activity involved in cell communication by electrical coupling  positive regulation of calcium ion transmembrane transport  proximal neuron projection  negative regulation of G1/S transition of mitotic cell cycle  
NDEx NetworkGJC2
Atlas of Cancer Signalling NetworkGJC2
Wikipedia pathwaysGJC2
Orthology - Evolution
OrthoDB57165
GeneTree (enSembl)ENSG00000198835
Phylogenetic Trees/Animal Genes : TreeFamGJC2
HOVERGENQ5T442
HOGENOMQ5T442
Homologs : HomoloGeneGJC2
Homology/Alignments : Family Browser (UCSC)GJC2
Gene fusions - Rearrangements
Fusion : QuiverGJC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJC2
dbVarGJC2
ClinVarGJC2
1000_GenomesGJC2 
Exome Variant ServerGJC2
ExAC (Exome Aggregation Consortium)ENSG00000198835
GNOMAD BrowserENSG00000198835
Varsome BrowserGJC2
Genetic variants : HAPMAP57165
Genomic Variants (DGV)GJC2 [DGVbeta]
DECIPHERGJC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJC2 
Mutations
ICGC Data PortalGJC2 
TCGA Data PortalGJC2 
Broad Tumor PortalGJC2
OASIS PortalGJC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJC2
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)Vascular Anomaly and Lymphedema Mutation Database
BioMutasearch GJC2
DgiDB (Drug Gene Interaction Database)GJC2
DoCM (Curated mutations)GJC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJC2 (select a term)
intoGenGJC2
Cancer3DGJC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608803    608804    613206    613480   
Orphanet20447    21721    11478   
DisGeNETGJC2
MedgenGJC2
Genetic Testing Registry GJC2
NextProtQ5T442 [Medical]
TSGene57165
GENETestsGJC2
Target ValidationGJC2
Huge Navigator GJC2 [HugePedia]
snp3D : Map Gene to Disease57165
BioCentury BCIQGJC2
ClinGenGJC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57165
Chemical/Pharm GKB GenePA162389696
Clinical trialGJC2
Miscellaneous
canSAR (ICR)GJC2 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJC2
EVEXGJC2
GoPubMedGJC2
iHOPGJC2
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 : Tue Nov 6 11:08:31 CET 2018

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