Gene: GJB3

Alternate names for this Gene: CX31|DFNA2|DFNA2B|EKV|EKVP1

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.3

Description of this Gene: gap junction protein beta 3

Type of Gene: protein-coding

Gene: LOC105378642

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: SMIM12

Alternate names for this Gene: C1orf212

Gene Summary:

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.3

Description of this Gene: small integral membrane protein 12

Type of Gene: protein-coding

rs74315318 in GJB3;LOC105378642;SMIM12 gene and Deafness, Autosomal Dominant 2B PMID 9843210 1998 Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.

rs2359644 in GJB3;LOC105378642;SMIM12 gene and Tonometry PMID 30591961 2019 Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population.