GJB3 Chromosome 1
Gap junction protein beta 3
Upload your DNA to see your personal genotypes for variants in GJB3.
What This Gene Does
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000188910
Associated Conditions (12)
Deafness
digenic
GJB2/GJB3
Erythrokeratodermia variabilis et progressiva 1
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 2B
Nonsyndromic Deafness
Inborn genetic diseases
GJB3-related disorder
autosomal dominant
with peripheral neuropathy
Hearing impairment
Key Variants
RS117385606
Conflicting classifications of pathogenicity
Deafness, digenic, GJB2/GJB3
Health Risk
RS144964568
Conflicting classifications of pathogenicity
Nonsyndromic Deafness, Nonsyndromic Deafness
Health Risk
RS147106166
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, Inborn genetic diseases
Health Risk
RS150245955
Conflicting classifications of pathogenicity
GJB3-related disorder, Inborn genetic diseases, GJB3-related disorder
Health Risk
RS199689484
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
Health Risk
RS200055020
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 1, GJB3-related disorder, Erythrokeratodermia variabilis et progressiva 1
Health Risk
RS200397530
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
Health Risk
RS200902087
Conflicting classifications of pathogenicity
GJB3-related disorder, GJB3-related disorder
Health Risk
RS201314683
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 1, Inborn genetic diseases, Erythrokeratodermia variabilis et progressiva 1
Health Risk
RS369979083
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
Health Risk
RS370476720
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 1, GJB3-related disorder, Inborn genetic diseases
Health Risk
RS373815705
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 1A, GJB3-related disorder, Autosomal recessive nonsyndromic hearing loss 1A
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117385606 | Health Risk | Conflicting classifications of pathogenicity | Deafness, digenic, GJB2/GJB3 |
| RS144964568 | Health Risk | Conflicting classifications of pathogenicity | Nonsyndromic Deafness, Nonsyndromic Deafness |
| RS147106166 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, Inborn genetic diseases |
| RS150245955 | Health Risk | Conflicting classifications of pathogenicity | GJB3-related disorder, Inborn genetic diseases, GJB3-related disorder |
| RS199689484 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1 |
| RS200055020 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, GJB3-related disorder, Erythrokeratodermia variabilis et progressiva 1 |
| RS200397530 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1 |
| RS200902087 | Health Risk | Conflicting classifications of pathogenicity | GJB3-related disorder, GJB3-related disorder |
| RS201314683 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, Inborn genetic diseases, Erythrokeratodermia variabilis et progressiva 1 |
| RS369979083 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1 |
| RS370476720 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, GJB3-related disorder, Inborn genetic diseases |
| RS373815705 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 1A, GJB3-related disorder, Autosomal recessive nonsyndromic hearing loss 1A |
| RS376506263 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376748531 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 2B, Erythrokeratodermia variabilis et progressiva 1, Autosomal recessive nonsyndromic hearing loss 1A |
| RS544836576 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61732295 | Health Risk | Conflicting classifications of pathogenicity | GJB3-related disorder, GJB3-related disorder |
| RS727503069 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 2B, Erythrokeratodermia variabilis et progressiva 1 |
| RS74315318 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 2B, Erythrokeratodermia variabilis et progressiva 1, GJB3-related disorder |
| RS749654470 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, Inborn genetic diseases, Erythrokeratodermia variabilis et progressiva 1 |
| RS751280813 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, Inborn genetic diseases, Erythrokeratodermia variabilis et progressiva 1 |
| RS765605645 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 2B, Autosomal dominant nonsyndromic hearing loss 2B |
| RS776320459 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1 |
| RS786200895 | Health Risk | Conflicting classifications of pathogenicity | Deafness, autosomal dominant, with peripheral neuropathy |
| RS1028370381 | Health Risk | Likely pathogenic | — |
| RS1064794946 | Health Risk | Likely pathogenic | — |
| RS2148354097 | Health Risk | Likely pathogenic | — |
| RS74315315 | Health Risk | Likely pathogenic | Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1 |
| RS1557659237 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS28937583 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, Erythrokeratodermia variabilis et progressiva 1 |
| RS74315316 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1 |
| RS74315317 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1 |
| RS74315321 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1 |