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GJB6 (gap junction protein, beta 6, 30kDa)

Identity

Other namesCX30
DFNA3
DFNA3B
DFNB1B
ECTD2
ED2
EDH
HED
HED2
HGNC (Hugo) GJB6
LocusID (NCBI) 10804
Location 13q12.11
Location_base_pair Starts at 20796101 and ends at 20806534 bp from pter ( according to hg19-Feb_2009)
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  10804  gap junction protein, beta 6, 30kDa
GeneCards (Weizmann)GJB6
Ensembl (Hinxton)ENSG00000121742 [Gene_View]  chr13:20796101-20806534 [Contig_View]  GJB6 [Vega]
ICGC DataPortalENSG00000121742
cBioPortalGJB6
AceView (NCBI)GJB6
Genatlas (Paris)GJB6
WikiGenes10804
SOURCE (Princeton)NM_001110219 NM_001110220 NM_001110221 NM_006783
Genomic and cartography
GoldenPath (UCSC)GJB6  -  13q12.11   chr13:20796101-20806534 -  13q12.11   [Description]    (hg19-Feb_2009)
EnsemblGJB6 - 13q12.11 [CytoView]
Mapping of homologs : NCBIGJB6 [Mapview]
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_006783
RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NG_008323 NT_024524 NW_001838069 NW_004929388
Consensus coding sequences : CCDS (NCBI)GJB6
Cluster EST : UnigeneHs.511757 [ NCBI ]
CGAP (NCI)Hs.511757
Alternative Splicing : Fast-db (Paris)GSHG0008336
Alternative Splicing GalleryENSG00000121742
Gene ExpressionGJB6 [ NCBI-GEO ]     GJB6 [ SEEK ]   GJB6 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95452 (Uniprot)
NextProtO95452  [Medical]
With graphics : InterProO95452
Splice isoforms : SwissVarO95452 (Swissvar)
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin [organisation]   Connexin_CCC [organisation]   Connexin_CS [organisation]   Connexin_N [organisation]  
Related proteins : CluSTrO95452
Domain families : Pfam (Sanger)Connexin (PF00029)    Connexin_CCC (PF10582)   
Domain families : Pfam (NCBI)pfam00029    pfam10582   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
DMDM Disease mutations10804
Blocks (Seattle)O95452
Human Protein AtlasENSG00000121742 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO95452
HPRD05107
IPIIPI00030763   
Protein Interaction databases
DIP (DOE-UCLA)O95452
IntAct (EBI)O95452
FunCoupENSG00000121742
BioGRIDGJB6
InParanoidO95452
Interologous Interaction database O95452
IntegromeDBGJB6
STRING (EMBL)GJB6
Ontologies - Pathways
Ontology : AmiGOcytosol  connexon complex  apoptotic process  cell communication  sensory perception of sound  negative regulation of cell proliferation  integral component of membrane  apical plasma membrane  ear morphogenesis  inner ear development  
Ontology : EGO-EBIcytosol  connexon complex  apoptotic process  cell communication  sensory perception of sound  negative regulation of cell proliferation  integral component of membrane  apical plasma membrane  ear morphogenesis  inner ear development  
Protein Interaction DatabaseGJB6
Wikipedia pathwaysGJB6
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GJB6
snp3D : Map Gene to Disease10804
SNP (GeneSNP Utah)GJB6
SNP : HGBaseGJB6
Genetic variants : HAPMAPGJB6
Exome VariantGJB6
1000_GenomesGJB6 
ICGC programENSG00000121742 
Somatic Mutations in Cancer : COSMICGJB6 
CONAN: Copy Number AnalysisGJB6 
Mutations and Diseases : HGMDGJB6
Genomic VariantsGJB6  GJB6 [DGVbeta]
dbVarGJB6
ClinVarGJB6
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM129500    220290    304400    604418    612643    612645   
MedgenGJB6
GENETestsGJB6
Disease Genetic AssociationGJB6
Huge Navigator GJB6 [HugePedia]  GJB6 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneGJB6
Homology/Alignments : Family Browser (UCSC)GJB6
Phylogenetic Trees/Animal Genes : TreeFamGJB6
Chemical/Protein Interactions : CTD10804
Chemical/Pharm GKB GenePA28699
Clinical trialGJB6
Cancer Resource (Charite)ENSG00000121742
Other databases
Probes
Litterature
PubMed130 Pubmed reference(s) in Entrez
CoreMineGJB6
iHOPGJB6
OncoSearchGJB6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:32:50 CEST 2014

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