GJB3 gap junction protein beta 3
Gene ID: 2707, updated on 28-Oct-2024Gene type: protein coding
Also known as: EKV; CX31; DFNA2; EKVP1; DFNA2B
- See all available tests in GTR for this gene
- Go to complete Gene record for GJB3
- Go to Variation Viewer for GJB3 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant nonsyndromic hearing loss 2B | See labs |
| Autosomal recessive nonsyndromic hearing loss 1A MedGen: C2673759OMIM: 220290GeneReviews: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss, Genetic Hearing Loss Overview | See labs |
| Deafness, digenic, GJB2/GJB3 MedGen: C2673761GeneReviews: Not available | See labs |
| Erythrokeratodermia variabilis et progressiva 1 | See labs |
Genomic context
- Location:
- 1p34.3
- Sequence:
- Chromosome: 1; NC_000001.11 (34781214..34786364)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GJB3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GJB3 database
- Hereditary Hearing Loss Homepage
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- The Connexin-deafness homepage
- Variation ViewerRelated Variants
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