LOVD GJB6 homepage

General information
Gene name gap junction protein, beta 6, 30kDa
Gene symbol GJB6
Chromosome Location 13q12
Database location MingQi_Lab
Curator Ming Qi, PhD, FACMG and Peikuan Cong
PubMed references View all (unique) PubMed references in the GJB6 database
Date of creation August 07, 2013
Last update August 07, 2013
Version GJB6 130807
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008323.1
Transcript refseq ID NM_006783.4
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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NOTE Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by
two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane
segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N-
and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin
proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however
the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This
gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in
some families with hidrotic ectodermal dysplasia.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the GJB6 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage http://www.genomed.org/lovd2/home.php?select_db=GJB6
HGNC 4288
Entrez Gene 10804
OMIM - Gene 604418
OMIM - Disease #1 ectodermal dysplasia 2, Clouston type (ECTD2)
OMIM - Disease #2 deafness autosomal recessive type 1B (DFNB1B)
OMIM - Disease #3 deafness autosomal dominant type 3B (DFNA3B)
UniProtKB (SwissProt/TrEMBL) O95452
GeneCards GJB6
GeneTests GJB6
External link #1 hereditaryhearingloss
External link #2 Connexins and deafness
External link #3 CCHMC Molecular Genetics Laboratory

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