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GJB4 (gap junction protein beta 4)

Identity

Alias_namesgap junction protein, beta 4 (connexin 30.3)
gap junction protein, beta 4
gap junction protein, beta 4, 30.3kDa
Alias_symbol (synonym)CX30.3
Other aliasEKV
HGNC (Hugo) GJB4
LocusID (NCBI) 127534
Atlas_Id 63799
Location 1p34.3  [Link to chromosome band 1p34]
Location_base_pair Starts at 34759741 and ends at 34763724 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)GJB4   4286
Cards
Entrez_Gene (NCBI)GJB4  127534  gap junction protein beta 4
AliasesCX30.3; EKV
GeneCards (Weizmann)GJB4
Ensembl hg19 (Hinxton)ENSG00000189433 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000189433 [Gene_View]  chr1:34759741-34763724 [Contig_View]  GJB4 [Vega]
ICGC DataPortalENSG00000189433
TCGA cBioPortalGJB4
AceView (NCBI)GJB4
Genatlas (Paris)GJB4
WikiGenes127534
SOURCE (Princeton)GJB4
Genetics Home Reference (NIH)GJB4
Genomic and cartography
GoldenPath hg38 (UCSC)GJB4  -     chr1:34759741-34763724 +  1p34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJB4  -     1p34.3   [Description]    (hg19-Feb_2009)
EnsemblGJB4 - 1p34.3 [CytoView hg19]  GJB4 - 1p34.3 [CytoView hg38]
Mapping of homologs : NCBIGJB4 [Mapview hg19]  GJB4 [Mapview hg38]
OMIM133200   605425   
Gene and transcription
Genbank (Entrez)AK057628 BC034709 DQ891324 DQ894508
RefSeq transcript (Entrez)NM_153212
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJB4
Cluster EST : UnigeneHs.351203 [ NCBI ]
CGAP (NCI)Hs.351203
Alternative Splicing GalleryENSG00000189433
Gene ExpressionGJB4 [ NCBI-GEO ]   GJB4 [ EBI - ARRAY_EXPRESS ]   GJB4 [ SEEK ]   GJB4 [ MEM ]
Gene Expression Viewer (FireBrowse)GJB4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)127534
GTEX Portal (Tissue expression)GJB4
Human Protein AtlasENSG00000189433-GJB4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NTQ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NTQ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NTQ9
Splice isoforms : SwissVarQ9NTQ9
PhosPhoSitePlusQ9NTQ9
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin311    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)GJB4
DMDM Disease mutations127534
Blocks (Seattle)GJB4
SuperfamilyQ9NTQ9
Human Protein Atlas [tissue]ENSG00000189433-GJB4 [tissue]
Peptide AtlasQ9NTQ9
HPRD05666
IPIIPI00018323   
Protein Interaction databases
DIP (DOE-UCLA)Q9NTQ9
IntAct (EBI)Q9NTQ9
FunCoupENSG00000189433
BioGRIDGJB4
STRING (EMBL)GJB4
ZODIACGJB4
Ontologies - Pathways
QuickGOQ9NTQ9
Ontology : AmiGOnucleus  nucleolus  connexin complex  cell communication  sensory perception of smell  integral component of membrane  cell junction  olfactory behavior  
Ontology : EGO-EBInucleus  nucleolus  connexin complex  cell communication  sensory perception of smell  integral component of membrane  cell junction  olfactory behavior  
NDEx NetworkGJB4
Atlas of Cancer Signalling NetworkGJB4
Wikipedia pathwaysGJB4
Orthology - Evolution
OrthoDB127534
GeneTree (enSembl)ENSG00000189433
Phylogenetic Trees/Animal Genes : TreeFamGJB4
HOVERGENQ9NTQ9
HOGENOMQ9NTQ9
Homologs : HomoloGeneGJB4
Homology/Alignments : Family Browser (UCSC)GJB4
Gene fusions - Rearrangements
Fusion: Tumor Portal GJB4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJB4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJB4
dbVarGJB4
ClinVarGJB4
1000_GenomesGJB4 
Exome Variant ServerGJB4
ExAC (Exome Aggregation Consortium)ENSG00000189433
GNOMAD BrowserENSG00000189433
Genetic variants : HAPMAP127534
Genomic Variants (DGV)GJB4 [DGVbeta]
DECIPHERGJB4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJB4 
Mutations
ICGC Data PortalGJB4 
TCGA Data PortalGJB4 
Broad Tumor PortalGJB4
OASIS PortalGJB4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJB4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJB4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch GJB4
DgiDB (Drug Gene Interaction Database)GJB4
DoCM (Curated mutations)GJB4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJB4 (select a term)
intoGenGJB4
Cancer3DGJB4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133200    605425   
Orphanet7023   
MedgenGJB4
Genetic Testing Registry GJB4
NextProtQ9NTQ9 [Medical]
TSGene127534
GENETestsGJB4
Target ValidationGJB4
Huge Navigator GJB4 [HugePedia]
snp3D : Map Gene to Disease127534
BioCentury BCIQGJB4
ClinGenGJB4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD127534
Chemical/Pharm GKB GenePA28697
Clinical trialGJB4
Miscellaneous
canSAR (ICR)GJB4 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJB4
EVEXGJB4
GoPubMedGJB4
iHOPGJB4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:49:02 CET 2017

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