GJB6 Chromosome 13
Gap junction protein beta 6
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What This Gene Does
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]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
13q12.11
Ensembl
ENSG00000121742
Associated Conditions (10)
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3B
GJB6-related disorder
X-linked mixed hearing loss with perilymphatic gusher
Monogenic hearing loss
Ichthyosis and erythrokeratoderma
Nonsyndromic Deafness
Inborn genetic diseases
Key Variants
RS145438428
Conflicting classifications of pathogenicity
Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A
Health Risk
RS150075979
Conflicting classifications of pathogenicity
Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B
Health Risk
RS200172266
Conflicting classifications of pathogenicity
Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A
Health Risk
RS2137333664
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B
Health Risk
RS35002004
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A
Health Risk
RS371123633
Conflicting classifications of pathogenicity
Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B
Health Risk
RS377181573
Conflicting classifications of pathogenicity
Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A
Health Risk
RS398124237
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B
Health Risk
RS543659673
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B
Health Risk
RS571454176
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, X-linked mixed hearing loss with perilymphatic gusher
Health Risk
RS756597598
Conflicting classifications of pathogenicity
Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B
Health Risk
RS770612890
Conflicting classifications of pathogenicity
Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145438428 | Health Risk | Conflicting classifications of pathogenicity | Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A |
| RS150075979 | Health Risk | Conflicting classifications of pathogenicity | Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B |
| RS200172266 | Health Risk | Conflicting classifications of pathogenicity | Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A |
| RS2137333664 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B |
| RS35002004 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 3B, Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A |
| RS371123633 | Health Risk | Conflicting classifications of pathogenicity | Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B |
| RS377181573 | Health Risk | Conflicting classifications of pathogenicity | Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A |
| RS398124237 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B |
| RS543659673 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B |
| RS571454176 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 1B, Autosomal dominant nonsyndromic hearing loss 3B, X-linked mixed hearing loss with perilymphatic gusher |
| RS756597598 | Health Risk | Conflicting classifications of pathogenicity | Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1B |
| RS770612890 | Health Risk | Conflicting classifications of pathogenicity | Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1B |
| RS772862268 | Health Risk | Conflicting classifications of pathogenicity | Nonsyndromic Deafness, Nonsyndromic Deafness |
| RS778513540 | Health Risk | Conflicting classifications of pathogenicity | Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1566538321 | Health Risk | Likely pathogenic | Nonsyndromic Deafness, Nonsyndromic Deafness |
| RS1869351345 | Health Risk | Likely pathogenic | Inborn genetic diseases, Hidrotic ectodermal dysplasia syndrome, Inborn genetic diseases |
| RS2137333887 | Health Risk | Likely pathogenic | — |
| RS104894414 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 3B, Autosomal dominant nonsyndromic hearing loss 3B |
| RS104894415 | Health Risk | Pathogenic | Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A |
| RS104894416 | Health Risk | Pathogenic | Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome |
| RS28937872 | Health Risk | Pathogenic | Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B, Autosomal recessive nonsyndromic hearing loss 1A |
| RS398124236 | Health Risk | Pathogenic | — |