GJB2 (gap junction protein, beta 2, 26kDa)

Identity

Other names	CX26
	DFNA3
	DFNB1
	HID
	KID
	NSRD1
	PPK
HGNC	GJB2
Location	13q11-q12
Location_base_pair	Starts at 19659606 and ends at 19665114 bp from pter ( according to hg18-March_2006).
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	GJB2   4284
Entrez_Gene	GJB2  2706  gap junction protein, beta 2, 26kDa
	Cards
GeneCards	GJB2
Ensembl	GJB2 [Search_View]   ENSG00000165474 [Gene_View]
Genatlas	GJB2
GeneLynx	GJB2
eGenome	GJB2
euGene	2706
	Genomic and cartography
GoldenPath	GJB2  -     chr13:19659606-19665114 -  13q12.11   [Description]    (hg18-March_2006)
Ensembl	GJB2 - 13q12.11 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	GJB2
	Gene and transcription
Genbank	AA947181 [ ENTREZ ]
Genbank	AA962716 [ ENTREZ ]
Genbank	AK225966 [ ENTREZ ]
Genbank	BC017048 [ ENTREZ ]
Genbank	BC071703 [ ENTREZ ]
RefSeq	NM_004004 [ SRS ]    NM_004004 [ ENTREZ ]
RefSeq	AC_000056 [ SRS ]    AC_000056 [ ENTREZ ]
RefSeq	AC_000145 [ SRS ]    AC_000145 [ ENTREZ ]
RefSeq	NC_000013 [ SRS ]    NC_000013 [ ENTREZ ]
RefSeq	NT_024524 [ SRS ]    NT_024524 [ ENTREZ ]
RefSeq	NW_001838069 [ SRS ]    NW_001838069 [ ENTREZ ]
RefSeq	NW_925473 [ SRS ]    NW_925473 [ ENTREZ ]
AceView	GJB2 AceView - NCBI
Unigene	Hs.714494 [ SRS ]    Hs.714494 [ NCBI ]     HS714494 [ spliceNest ]
Fast-db	391 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P29033 [ SRS]    P29033 [ EXPASY ]     P29033 [ INTERPRO ]     P29033 [ 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	IPR002268 Connexin26 [ SRS ]    IPR002268 Connexin26 [ EBI ]
Interpro	IPR013092 Connexin_N [ SRS ]    IPR013092 Connexin_N [ EBI ]
CluSTr	P29033
Pfam	PF00029 Connexin [ SRS ]    PF00029 Connexin [ Sanger ]    pfam00029 [ NCBI-CDD ]
Smart	SM00037 CNX [EMBL]
Blocks	P29033
PDB	1XIR [ SRS ]    1XIR [ PdbSum ],   1XIR [ IMB ]   1XIR [ RSDB ]
HPRD	00413
	Protein Interaction databases
DIP	P29033
IntAct	P29033
	Polymorphism : SNP, mutations, diseases
OMIM	121011;124500;148210;148350;149200;220290;601544;602540    [ map ]
GENECLINICS	121011;124500;148210;148350;149200;220290;601544;602540
SNP	GJB2 [dbSNP-NCBI]
SNP	NM_004004 [SNP-NCI]
SNP	GJB2 [GeneSNPs - Utah]  GJB2] [HGBASE - SRS]
HAPMAP	GJB2 [HAPMAP]
HGMD	GJB2
	General knowledge
Family Browser	GJB2 [UCSC Family Browser]
SOURCE	NM_004004
SMD	Hs.714494
SAGE	Hs.714494
GO	Golgi membrane [Amigo]  Golgi membrane
GO	gap junction channel activity [Amigo]  gap junction channel activity
GO	protein binding [Amigo]  protein binding
GO	plasma membrane [Amigo]  plasma membrane
GO	plasma membrane [Amigo]  plasma membrane
GO	connexon complex [Amigo]  connexon complex
GO	transport [Amigo]  transport
GO	cell-cell signaling [Amigo]  cell-cell signaling
GO	sensory perception of sound [Amigo]  sensory perception of sound
GO	integral to membrane [Amigo]  integral to membrane
GO	lateral plasma membrane [Amigo]  lateral plasma membrane
GO	cell junction [Amigo]  cell junction
GO	male genitalia development [Amigo]  male genitalia development
KEGG	Cell Communication
PubGene	GJB2
TreeFam	GJB2
CTD	2706 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	GJB2 Related clones (RZPD - Berlin)
	PubMed
PubMed	309 Pubmed reference(s) in Entrez

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 : Sat Oct 18 14:43:09 2008