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

Identity

Other names	CX30
	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
HGNC	GJB6   4288
Entrez_Gene	GJB6  10804  gap junction protein, beta 6, 30kDa
	Cards
GeneCards	GJB6
Ensembl	GJB6 [Search_View]   ENSG00000121742 [Gene_View]
Genatlas	GJB6
GeneLynx	GJB6
eGenome	GJB6
euGene	10804
	Genomic and cartography
GoldenPath	GJB6  -     chr13:19694101-19704534 -  13q12.11   [Description]    (hg18-March_2006)
Ensembl	GJB6 - 13q12.11 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	GJB6
	Gene and transcription
Genbank	AK075247 [ ENTREZ ]
Genbank	AK289592 [ ENTREZ ]
Genbank	AK312352 [ ENTREZ ]
Genbank	AY297110 [ ENTREZ ]
Genbank	AY789474 [ ENTREZ ]
RefSeq	NM_001110219 [ SRS ]    NM_001110219 [ ENTREZ ]
RefSeq	NM_001110220 [ SRS ]    NM_001110220 [ ENTREZ ]
RefSeq	NM_001110221 [ SRS ]    NM_001110221 [ ENTREZ ]
RefSeq	NM_006783 [ SRS ]    NM_006783 [ ENTREZ ]
RefSeq	AC_000056 [ SRS ]    AC_000056 [ ENTREZ ]
RefSeq	AC_000145 [ SRS ]    AC_000145 [ ENTREZ ]
RefSeq	NC_000013 [ SRS ]    NC_000013 [ ENTREZ ]
RefSeq	NG_008323 [ SRS ]    NG_008323 [ ENTREZ ]
RefSeq	NT_024524 [ SRS ]    NT_024524 [ ENTREZ ]
RefSeq	NW_001838069 [ SRS ]    NW_001838069 [ ENTREZ ]
RefSeq	NW_925473 [ SRS ]    NW_925473 [ ENTREZ ]
AceView	GJB6 AceView - NCBI
Unigene	Hs.713152 [ SRS ]    Hs.713152 [ NCBI ]     HS713152 [ spliceNest ]
Fast-db	394 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O95452 [ SRS]    O95452 [ EXPASY ]     O95452 [ INTERPRO ]     O95452 [ UNIPROT ]
Prosite	PS00407 CONNEXINS_1 [ SRS ]    PS00407 CONNEXINS_1 [ Expasy ]
Prosite	PS00408 CONNEXINS_2 [ SRS ]    PS00408 CONNEXINS_2 [ Expasy ]
Interpro	IPR000500 Connexin [ SRS ]    IPR000500 Connexin [ EBI ]
Interpro	IPR013092 Connexin_N [ SRS ]    IPR013092 Connexin_N [ EBI ]
CluSTr	O95452
Pfam	PF00029 Connexin [ SRS ]    PF00029 Connexin [ Sanger ]    pfam00029 [ NCBI-CDD ]
Smart	SM00037 CNX [EMBL]
Blocks	O95452
HPRD	05107
	Protein Interaction databases
DIP	O95452
IntAct	O95452
	Polymorphism : SNP, mutations, diseases
OMIM	129500;601544;604418    [ map ]
GENECLINICS	129500;601544;604418
SNP	GJB6 [dbSNP-NCBI]
SNP	NM_001110219 [SNP-NCI]
SNP	NM_001110220 [SNP-NCI]
SNP	NM_001110221 [SNP-NCI]
SNP	NM_006783 [SNP-NCI]
SNP	GJB6 [GeneSNPs - Utah]  GJB6] [HGBASE - SRS]
HAPMAP	GJB6 [HAPMAP]
HGMD	GJB6
	General knowledge
Family Browser	GJB6 [UCSC Family Browser]
SOURCE	NM_001110219
SOURCE	NM_001110220
SOURCE	NM_001110221
SOURCE	NM_006783
SMD	Hs.713152
SAGE	Hs.713152
GO	protein binding [Amigo]  protein binding
GO	cytosol [Amigo]  cytosol
GO	plasma membrane [Amigo]  plasma membrane
GO	connexon complex [Amigo]  connexon complex
GO	apoptosis [Amigo]  apoptosis
GO	cell communication [Amigo]  cell communication
GO	sensory perception of sound [Amigo]  sensory perception of sound
GO	negative regulation of cell proliferation [Amigo]  negative regulation of cell proliferation
GO	integral to membrane [Amigo]  integral to membrane
GO	apical plasma membrane [Amigo]  apical plasma membrane
GO	cell junction [Amigo]  cell junction
GO	ear morphogenesis [Amigo]  ear morphogenesis
GO	inner ear development [Amigo]  inner ear development
KEGG	Cell Communication
PubGene	GJB6
TreeFam	GJB6
CTD	10804 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	GJB6 Related clones (RZPD - Berlin)
	PubMed
PubMed	60 Pubmed reference(s) in LocusLink

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 20:12:40 2008