LOVD GJB2 homepage

General information
Gene name gap junction protein, beta 2, 26kDa
Gene symbol GJB2
Chromosome Location 13q11-q12
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the GJB2 database
Date of creation December 29, 2006
Last update October 24, 2017
Version GJB2 171024
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000013.9
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 227
Total number of individuals with variant(s) 8
Total number of variants reported 236
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the GJB2 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the GJB2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the GJB2 database
Variants with no known pathogenicity Listing of all GJB2 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the GJB2 database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
Entrez Gene 2706
OMIM - Gene 121011
UniProtKB (SwissProt/TrEMBL) P29033
GeneCards GJB2
GeneTests GJB2
External link #1 Connexin-deafness Homepage
External link #2 Deafness Gene Mutation Database
External link #3 The Hereditary Hearing loss Homepage
External link #4 Reference mRNA NM_004004.3
External link #5 Reference protien NP_003995.2

For research use. Husami et al. 2006-2010