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GJD4 (gap junction protein delta 4)

Identity

Alias (NCBI)CX40.1
HGNC (Hugo) GJD4
HGNC Alias symbCX40.1
FLJ90023
HGNC Alias nameconnexin 40.1
HGNC Previous namegap junction protein, delta 4, 40.1kDa
LocusID (NCBI) 219770
Atlas_Id 63803
Location 10p11.21  [Link to chromosome band 10p11]
Location_base_pair Starts at 35605341 and ends at 35608935 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)GJD4   23296
Cards
Entrez_Gene (NCBI)GJD4    gap junction protein delta 4
AliasesCX40.1
GeneCards (Weizmann)GJD4
Ensembl hg19 (Hinxton)ENSG00000177291 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177291 [Gene_View]  ENSG00000177291 [Sequence]  chr10:35605341-35608935 [Contig_View]  GJD4 [Vega]
ICGC DataPortalENSG00000177291
TCGA cBioPortalGJD4
AceView (NCBI)GJD4
Genatlas (Paris)GJD4
SOURCE (Princeton)GJD4
Genetics Home Reference (NIH)GJD4
Genomic and cartography
GoldenPath hg38 (UCSC)GJD4  -     chr10:35605341-35608935 +  10p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJD4  -     10p11.21   [Description]    (hg19-Feb_2009)
GoldenPathGJD4 - 10p11.21 [CytoView hg19]  GJD4 - 10p11.21 [CytoView hg38]
ImmunoBaseENSG00000177291
Genome Data Viewer NCBIGJD4 [Mapview hg19]  
OMIM611922   
Gene and transcription
Genbank (Entrez)AJ414564 AK074504 BC035898
RefSeq transcript (Entrez)NM_153368
Consensus coding sequences : CCDS (NCBI)GJD4
Gene ExpressionGJD4 [ NCBI-GEO ]   GJD4 [ EBI - ARRAY_EXPRESS ]   GJD4 [ SEEK ]   GJD4 [ MEM ]
Gene Expression Viewer (FireBrowse)GJD4 [ Firebrowse - Broad ]
GenevisibleExpression of GJD4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)219770
GTEX Portal (Tissue expression)GJD4
Human Protein AtlasENSG00000177291-GJD4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96KN9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96KN9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96KN9
PhosPhoSitePlusQ96KN9
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)GJD4
SuperfamilyQ96KN9
AlphaFold pdb e-kbQ96KN9   
Human Protein Atlas [tissue]ENSG00000177291-GJD4 [tissue]
HPRD13103
Protein Interaction databases
DIP (DOE-UCLA)Q96KN9
IntAct (EBI)Q96KN9
BioGRIDGJD4
STRING (EMBL)GJD4
ZODIACGJD4
Ontologies - Pathways
QuickGOQ96KN9
Ontology : AmiGOgap junction channel activity  connexin complex  cell-cell signaling  integral component of membrane  transmembrane transport  
Ontology : EGO-EBIgap junction channel activity  connexin complex  cell-cell signaling  integral component of membrane  transmembrane transport  
Pathways : KEGGCell Communication   
NDEx NetworkGJD4
Atlas of Cancer Signalling NetworkGJD4
Wikipedia pathwaysGJD4
Orthology - Evolution
OrthoDB219770
GeneTree (enSembl)ENSG00000177291
Phylogenetic Trees/Animal Genes : TreeFamGJD4
Homologs : HomoloGeneGJD4
Homology/Alignments : Family Browser (UCSC)GJD4
Gene fusions - Rearrangements
Fusion : QuiverGJD4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJD4
dbVarGJD4
ClinVarGJD4
MonarchGJD4
1000_GenomesGJD4 
Exome Variant ServerGJD4
GNOMAD BrowserENSG00000177291
Varsome BrowserGJD4
ACMGGJD4 variants
VarityQ96KN9
Genomic Variants (DGV)GJD4 [DGVbeta]
DECIPHERGJD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJD4 
Mutations
ICGC Data PortalGJD4 
TCGA Data PortalGJD4 
Broad Tumor PortalGJD4
OASIS PortalGJD4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJD4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGJD4
Mutations and Diseases : HGMDGJD4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGJD4
DgiDB (Drug Gene Interaction Database)GJD4
DoCM (Curated mutations)GJD4
CIViC (Clinical Interpretations of Variants in Cancer)GJD4
Cancer3DGJD4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611922   
Orphanet
DisGeNETGJD4
MedgenGJD4
Genetic Testing Registry GJD4
NextProtQ96KN9 [Medical]
GENETestsGJD4
Target ValidationGJD4
Huge Navigator GJD4 [HugePedia]
ClinGenGJD4
Clinical trials, drugs, therapy
MyCancerGenomeGJD4
Protein Interactions : CTDGJD4
Pharm GKB GenePA162389714
PharosQ96KN9
Clinical trialGJD4
Miscellaneous
canSAR (ICR)GJD4
HarmonizomeGJD4
DataMed IndexGJD4
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGJD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:51:29 CEST 2021

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