GENE NAME | GJB3 |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000188910 |
ENTREZ ID | 2707 |
UNIPROT ACCESSION NUMBER | O75712 |
GO MOLECULAR FUNCTION | gap junction channel activity; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-190828; R-HSA-157858; R-HSA-190861; R-HSA-199991; R-HSA-5653656 |
7 combinations linked to GJB3 | OLI406; OLI193; OLI194; OLI192; OLI135; OLI136; OLI252 |
4 variants linked to GJB3 | GJB3:c.284C>T, ; GJB3:c.250G>A, p.Val84Ile; GJB3:c.497A>G, p.Asn166Ser; GJB3:c.580G>A, p.Ala194Thr |
1 disease linked to GJB3 | Non-syndromic genetic deafness |