| 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 | OLI193; OLI136; OLI192; OLI194; OLI135; OLI406; 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 |