GJB2 gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

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

LOVD v.3.0 Build 21 [ Current LOVD status ]
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	Curators: Lishuang Shen and Atteeq Rehman

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GJB2 gene homepage

General information
Gene symbol	GJB2
Gene name	gap junction protein, beta 2, 26kDa
Chromosome	13
Chromosomal band	q11-q12
Imprinted	Unknown
Genomic reference	NC_000013.10
Transcript reference	NM_004004.5
Associated with diseases	DFNB1A
Citation reference(s)	-
Curators (2)	Lishuang Shen and Atteeq Rehman
Total number of public variants reported	161
Unique public DNA variants reported	160
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Date created	December 10, 2013
Date last updated	December 10, 2013
Version	GJB2:131210

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	4284
Entrez Gene	2706
PubMed articles	GJB2
OMIM - Gene	121011
OMIM - Diseases	DFNB1A (DEAFNESS, AUTOSOMAL RECESSIVE 1A)
HGMD	GJB2
GeneCards	GJB2
GeneTests	GJB2

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00003143	13	gap junction protein, beta 2, 26kDa	NM_004004.5	NP_003995.2	161

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