Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GJB6 (gap junction protein beta 6)

Identity

Alias (NCBI)CX30
DFNA3
DFNA3B
DFNB1B
ECTD2
ED2
EDH
HED
HED2
HGNC (Hugo) GJB6
HGNC Alias symbEDH
HED
CX30
HGNC Alias nameconnexin 30
HGNC Previous nameDFNA3
 ED2
HGNC Previous nameectodermal dysplasia 2, hidrotic (Clouston syndrome)
 gap junction protein, beta 6 (connexin 30)
 gap junction protein, beta 6
 gap junction protein, beta 6, 30kDa
LocusID (NCBI) 10804
Atlas_Id 49731
Location 13q12.11  [Link to chromosome band 13q12]
Location_base_pair Starts at 20221962 and ends at 20231233 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)GJB6   4288
Cards
Entrez_Gene (NCBI)GJB6    gap junction protein beta 6
AliasesCX30; DFNA3; DFNA3B; DFNB1B; 
ECTD2; ED2; EDH; HED; HED2
GeneCards (Weizmann)GJB6
Ensembl hg19 (Hinxton)ENSG00000121742 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121742 [Gene_View]  ENSG00000121742 [Sequence]  chr13:20221962-20231233 [Contig_View]  GJB6 [Vega]
ICGC DataPortalENSG00000121742
TCGA cBioPortalGJB6
AceView (NCBI)GJB6
Genatlas (Paris)GJB6
SOURCE (Princeton)GJB6
Genetics Home Reference (NIH)GJB6
Genomic and cartography
GoldenPath hg38 (UCSC)GJB6  -     chr13:20221962-20231233 -  13q12.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJB6  -     13q12.11   [Description]    (hg19-Feb_2009)
GoldenPathGJB6 - 13q12.11 [CytoView hg19]  GJB6 - 13q12.11 [CytoView hg38]
ImmunoBaseENSG00000121742
genome Data Viewer NCBIGJB6 [Mapview hg19]  
OMIM129500   220290   304400   604418   612643   612645   
Gene and transcription
Genbank (Entrez)AK075247 AK289592 AK312352 AY297110 AY789474
RefSeq transcript (Entrez)NM_001110219 NM_001110220 NM_001110221 NM_001370090 NM_001370091 NM_001370092 NM_006783
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJB6
Alternative Splicing GalleryENSG00000121742
Gene ExpressionGJB6 [ NCBI-GEO ]   GJB6 [ EBI - ARRAY_EXPRESS ]   GJB6 [ SEEK ]   GJB6 [ MEM ]
Gene Expression Viewer (FireBrowse)GJB6 [ Firebrowse - Broad ]
GenevisibleExpression of GJB6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10804
GTEX Portal (Tissue expression)GJB6
Human Protein AtlasENSG00000121742-GJB6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95452   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95452  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95452
Splice isoforms : SwissVarO95452
PhosPhoSitePlusO95452
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)GJB6
Blocks (Seattle)GJB6
SuperfamilyO95452
Human Protein Atlas [tissue]ENSG00000121742-GJB6 [tissue]
Peptide AtlasO95452
HPRD05107
IPIIPI00030763   
Protein Interaction databases
DIP (DOE-UCLA)O95452
IntAct (EBI)O95452
BioGRIDGJB6
STRING (EMBL)GJB6
ZODIACGJB6
Ontologies - Pathways
QuickGOO95452
Ontology : AmiGOgap junction channel activity  gap junction channel activity  cytosol  actin filament  gap junction  gap junction  connexin complex  apoptotic process  cell-cell signaling  aging  sensory perception of sound  microtubule binding  negative regulation of cell proliferation  cell communication by electrical coupling  integral component of membrane  gap junction assembly  gap junction assembly  apical plasma membrane  cell junction  response to lipopolysaccharide  maintenance of permeability of blood-brain barrier  ear morphogenesis  beta-tubulin binding  inner ear development  actin filament binding  response to electrical stimulus  transmembrane transport  cellular response to glucose stimulus  gap junction channel activity involved in cell communication by electrical coupling  gap junction-mediated intercellular transport  
Ontology : EGO-EBIgap junction channel activity  gap junction channel activity  cytosol  actin filament  gap junction  gap junction  connexin complex  apoptotic process  cell-cell signaling  aging  sensory perception of sound  microtubule binding  negative regulation of cell proliferation  cell communication by electrical coupling  integral component of membrane  gap junction assembly  gap junction assembly  apical plasma membrane  cell junction  response to lipopolysaccharide  maintenance of permeability of blood-brain barrier  ear morphogenesis  beta-tubulin binding  inner ear development  actin filament binding  response to electrical stimulus  transmembrane transport  cellular response to glucose stimulus  gap junction channel activity involved in cell communication by electrical coupling  gap junction-mediated intercellular transport  
NDEx NetworkGJB6
Atlas of Cancer Signalling NetworkGJB6
Wikipedia pathwaysGJB6
Orthology - Evolution
OrthoDB10804
GeneTree (enSembl)ENSG00000121742
Phylogenetic Trees/Animal Genes : TreeFamGJB6
HOGENOMO95452
Homologs : HomoloGeneGJB6
Homology/Alignments : Family Browser (UCSC)GJB6
Gene fusions - Rearrangements
Fusion : QuiverGJB6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJB6 [hg38]
dbVarGJB6
ClinVarGJB6
MonarchGJB6
1000_GenomesGJB6 
Exome Variant ServerGJB6
GNOMAD BrowserENSG00000121742
Varsome BrowserGJB6
Genomic Variants (DGV)GJB6 [DGVbeta]
DECIPHERGJB6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJB6 
Mutations
ICGC Data PortalGJB6 
TCGA Data PortalGJB6 
Broad Tumor PortalGJB6
OASIS PortalGJB6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJB6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGJB6
Mutations and Diseases : HGMDGJB6
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)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch GJB6
DgiDB (Drug Gene Interaction Database)GJB6
DoCM (Curated mutations)GJB6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJB6 (select a term)
intoGenGJB6
Cancer3DGJB6(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM129500    220290    304400    604418    612643    612645   
Orphanet520    991    12046    12047   
DisGeNETGJB6
MedgenGJB6
Genetic Testing Registry GJB6
NextProtO95452 [Medical]
GENETestsGJB6
Target ValidationGJB6
Huge Navigator GJB6 [HugePedia]
ClinGenGJB6 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeGJB6
Protein Interactions : CTD
Pharm GKB GenePA28699
PharosO95452
Clinical trialGJB6
Miscellaneous
canSAR (ICR)GJB6 (select the gene name)
HarmonizomeGJB6
DataMed IndexGJB6
Probes
Litterature
PubMed156 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGJB6
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 : Fri Jan 1 18:17:04 CET 2021

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