GJB6 gap junction protein beta 6

Gene ID: 10804, updated on 2-Nov-2024
Gene type: protein coding
Also known as: ED2; EDH; HED; CX30; HED2; DFNA3; ECTD2; DFNA3B; DFNB1B

Summary

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal dominant nonsyndromic hearing loss 3B MedGen: C2675237OMIM: 612643GeneReviews: Genetic Hearing Loss Overview	See labs
Autosomal recessive nonsyndromic hearing loss 1A MedGen: C2673759OMIM: 220290GeneReviews: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss, Genetic Hearing Loss Overview	See labs
Autosomal recessive nonsyndromic hearing loss 1B MedGen: C2675235OMIM: 612645GeneReviews: Not available	See labs
Hidrotic ectodermal dysplasia syndrome MedGen: C0162361OMIM: 129500GeneReviews: Hidrotic Ectodermal Dysplasia 2	See labs
X-linked mixed hearing loss with perilymphatic gusher MedGen: C1844678OMIM: 304400GeneReviews: Genetic Hearing Loss Overview	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2014-01-30) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2014-01-30) ClinGen Genome Curation Page

Genomic context

Location:: 13q12.11

Sequence:: Chromosome: 13; NC_000013.11 (20221962..20232319, complement)

Total number of exons:: 6

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GJB6 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CCHMC - Human Genetics Mutation Database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
Hereditary Hearing Loss Homepage
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
The Connexin-deafness homepage
Variation Viewer
Related Variants

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