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GJD2 (gap junction protein delta 2)

Identity

Alias_namesGJA9
gap junction protein, alpha 9, 36kDa
gap junction protein, delta 2, 36kDa
Alias_symbol (synonym)CX36
Other alias
HGNC (Hugo) GJD2
LocusID (NCBI) 57369
Atlas_Id 63801
Location 15q14  [Link to chromosome band 15q14]
Location_base_pair Starts at 34752441 and ends at 34754581 bp from pter ( according to hg38-Dec_2013)

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)GJD2   19154
Cards
Entrez_Gene (NCBI)GJD2  57369  gap junction protein delta 2
AliasesCX36; GJA9
GeneCards (Weizmann)GJD2
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr15:34752441-34754581 [Contig_View]  GJD2 [Vega]
TCGA cBioPortalGJD2
AceView (NCBI)GJD2
Genatlas (Paris)GJD2
WikiGenes57369
SOURCE (Princeton)GJD2
Genetics Home Reference (NIH)GJD2
Genomic and cartography
GoldenPath hg38 (UCSC)GJD2  -     chr15:34752441-34754581 -  15q14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJD2  -     15q14   [Description]    (hg19-Feb_2009)
EnsemblGJD2 - 15q14 [CytoView hg19]  GJD2 - 15q14 [CytoView hg38]
Mapping of homologs : NCBIGJD2 [Mapview hg19]  GJD2 [Mapview hg38]
OMIM607058   
Gene and transcription
Genbank (Entrez)BC069131 BC069339 BC112110 BC112114 BC143788
RefSeq transcript (Entrez)NM_020660
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJD2
Cluster EST : UnigeneHs.283816 [ NCBI ]
CGAP (NCI)Hs.283816
Gene ExpressionGJD2 [ NCBI-GEO ]   GJD2 [ EBI - ARRAY_EXPRESS ]   GJD2 [ SEEK ]   GJD2 [ MEM ]
Gene Expression Viewer (FireBrowse)GJD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57369
GTEX Portal (Tissue expression)GJD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKL4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKL4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKL4
Splice isoforms : SwissVarQ9UKL4
PhosPhoSitePlusQ9UKL4
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin36    Connexin_CCC    Connexin_CS    Connexin_N   
Domain families : Pfam (Sanger)Connexin (PF00029)   
Domain families : Pfam (NCBI)pfam00029   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
Conserved Domain (NCBI)GJD2
DMDM Disease mutations57369
Blocks (Seattle)GJD2
PDB (SRS)2N6A   
PDB (PDBSum)2N6A   
PDB (IMB)2N6A   
PDB (RSDB)2N6A   
Structural Biology KnowledgeBase2N6A   
SCOP (Structural Classification of Proteins)2N6A   
CATH (Classification of proteins structures)2N6A   
SuperfamilyQ9UKL4
Peptide AtlasQ9UKL4
HPRD09521
IPIIPI00007618   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKL4
IntAct (EBI)Q9UKL4
BioGRIDGJD2
STRING (EMBL)GJD2
ZODIACGJD2
Ontologies - Pathways
QuickGOQ9UKL4
Ontology : AmiGOaction potential  gap junction channel activity  plasma membrane  connexin complex  chemical synaptic transmission  visual perception  integral component of membrane  transmembrane transport  
Ontology : EGO-EBIaction potential  gap junction channel activity  plasma membrane  connexin complex  chemical synaptic transmission  visual perception  integral component of membrane  transmembrane transport  
Pathways : KEGGGap junction   
NDEx NetworkGJD2
Atlas of Cancer Signalling NetworkGJD2
Wikipedia pathwaysGJD2
Orthology - Evolution
OrthoDB57369
Phylogenetic Trees/Animal Genes : TreeFamGJD2
HOVERGENQ9UKL4
HOGENOMQ9UKL4
Homologs : HomoloGeneGJD2
Homology/Alignments : Family Browser (UCSC)GJD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJD2
dbVarGJD2
ClinVarGJD2
1000_GenomesGJD2 
Exome Variant ServerGJD2
ExAC (Exome Aggregation Consortium)GJD2 (select the gene name)
Genetic variants : HAPMAP57369
Genomic Variants (DGV)GJD2 [DGVbeta]
DECIPHERGJD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJD2 
Mutations
ICGC Data PortalGJD2 
TCGA Data PortalGJD2 
Broad Tumor PortalGJD2
OASIS PortalGJD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJD2
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
BioMutasearch GJD2
DgiDB (Drug Gene Interaction Database)GJD2
DoCM (Curated mutations)GJD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJD2 (select a term)
intoGenGJD2
Cancer3DGJD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607058   
Orphanet
MedgenGJD2
Genetic Testing Registry GJD2
NextProtQ9UKL4 [Medical]
TSGene57369
GENETestsGJD2
Target ValidationGJD2
Huge Navigator GJD2 [HugePedia]
snp3D : Map Gene to Disease57369
BioCentury BCIQGJD2
ClinGenGJD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57369
Chemical/Pharm GKB GenePA162389706
Clinical trialGJD2
Miscellaneous
canSAR (ICR)GJD2 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJD2
EVEXGJD2
GoPubMedGJD2
iHOPGJD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:09:24 CEST 2017

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