Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Other namesCX30
DFNA3
ED2
EDH
HED
HGNC GJB6
Location 13q11-q12.1|13q12
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

External links

Nomenclature
HGNCGJB6   4288
Entrez_GeneGJB6  10804  gap junction protein, beta 6, 30kDa
Cards
GeneCardsGJB6
EnsemblGJB6 [Search_View]   ENSG00000121742 [Gene_View]
GenatlasGJB6
GeneLynxGJB6
eGenomeGJB6
euGene10804
Genomic and cartography
GoldenPathGJB6  -     chr13:19694101-19704534 -  13q12.11   [Description]    (hg18-March_2006)
EnsemblGJB6 - 13q12.11 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneGJB6
Gene and transcription
GenbankAK075247 [ ENTREZ ]
GenbankAK289592 [ ENTREZ ]
GenbankAK312352 [ ENTREZ ]
GenbankAY297110 [ ENTREZ ]
GenbankAY789474 [ ENTREZ ]
RefSeqNM_001110219 [ SRS ]    NM_001110219 [ ENTREZ ]
RefSeqNM_001110220 [ SRS ]    NM_001110220 [ ENTREZ ]
RefSeqNM_001110221 [ SRS ]    NM_001110221 [ ENTREZ ]
RefSeqNM_006783 [ SRS ]    NM_006783 [ ENTREZ ]
RefSeqAC_000056 [ SRS ]    AC_000056 [ ENTREZ ]
RefSeqAC_000145 [ SRS ]    AC_000145 [ ENTREZ ]
RefSeqNC_000013 [ SRS ]    NC_000013 [ ENTREZ ]
RefSeqNG_008323 [ SRS ]    NG_008323 [ ENTREZ ]
RefSeqNT_024524 [ SRS ]    NT_024524 [ ENTREZ ]
RefSeqNW_001838069 [ SRS ]    NW_001838069 [ ENTREZ ]
RefSeqNW_925473 [ SRS ]    NW_925473 [ ENTREZ ]
AceViewGJB6 AceView - NCBI
UnigeneHs.713152 [ SRS ]    Hs.713152 [ NCBI ]     HS713152 [ spliceNest ]
Fast-db394 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtO95452 [ SRS]    O95452 [ EXPASY ]     O95452 [ INTERPRO ]     O95452 [ UNIPROT ]
PrositePS00407 CONNEXINS_1 [ SRS ]    PS00407 CONNEXINS_1 [ Expasy ]
PrositePS00408 CONNEXINS_2 [ SRS ]    PS00408 CONNEXINS_2 [ Expasy ]
InterproIPR000500 Connexin [ SRS ]    IPR000500 Connexin [ EBI ]
InterproIPR013092 Connexin_N [ SRS ]    IPR013092 Connexin_N [ EBI ]
CluSTrO95452
PfamPF00029 Connexin [ SRS ]    PF00029 Connexin [ Sanger ]    pfam00029 [ NCBI-CDD ]
SmartSM00037 CNX [EMBL]
BlocksO95452
HPRD05107
Protein Interaction databases
DIPO95452
IntActO95452
Polymorphism : SNP, mutations, diseases
OMIM129500;601544;604418    [ map ]   
GENECLINICS129500;601544;604418
SNPGJB6 [dbSNP-NCBI]  
SNPNM_001110219 [SNP-NCI]  
SNPNM_001110220 [SNP-NCI]  
SNPNM_001110221 [SNP-NCI]  
SNPNM_006783 [SNP-NCI]  
SNPGJB6 [GeneSNPs - Utah]  GJB6] [HGBASE - SRS]
HAPMAPGJB6 [HAPMAP]  
HGMDGJB6
General knowledge
Family BrowserGJB6 [UCSC Family Browser]
SOURCENM_001110219
SOURCENM_001110220
SOURCENM_001110221
SOURCENM_006783
SMDHs.713152
SAGEHs.713152
GOprotein binding [Amigo]  protein binding
GOcytosol [Amigo]  cytosol
GOplasma membrane [Amigo]  plasma membrane
GOconnexon complex [Amigo]  connexon complex
GOapoptosis [Amigo]  apoptosis
GOcell communication [Amigo]  cell communication
GOsensory perception of sound [Amigo]  sensory perception of sound
GOnegative regulation of cell proliferation [Amigo]  negative regulation of cell proliferation
GOintegral to membrane [Amigo]  integral to membrane
GOapical plasma membrane [Amigo]  apical plasma membrane
GOcell junction [Amigo]  cell junction
GOear morphogenesis [Amigo]  ear morphogenesis
GOinner ear development [Amigo]  inner ear development
KEGGCell Communication
PubGeneGJB6
TreeFamGJB6
CTD10804 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeGJB6 Related clones (RZPD - Berlin)
PubMed
PubMed60 Pubmed reference(s) in LocusLink
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
Updated03-2008Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 20:12:40 2008


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