Details for Gene GJB2

GENE NAME GJB2
CHROMOSOME 13
ENSEMBL ID None
ENTREZ ID ENSG00000165474
UNIPROT ACCESSION NUMBER P29033
GO MOLECULAR FUNCTION ['gap junction channel activity involved in cell communication by electrical coupling', 'calcium ion binding', 'gap junction channel activity', 'protein binding', 'identical protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-157858; R-HSA-190704; R-HSA-190827; R-HSA-190828; R-HSA-190861; R-HSA-190872; R-HSA-199991; R-HSA-5653656
21 combinations linked to GJB2 OLI1317; OLI1101; OLI192; OLI137; OLI136; OLI1315; OLI252; OLI1100; OLI406; OLI251; OLI060; OLI1318; OLI1314; OLI135; OLI194; OLI193; OLI1104; OLI013; OLI1103; OLI1316; OLI1313
12 variants linked to GJB2 GJB2:c.487A>G, p.Met163Val; GJB2:c.35delG, p.Gly12ValfsTer2; GJB2:c.638T>C, p.Leu213Ser; GJB2:c.109G>A, p.Val37Ile; GJB2:c.235delC, p.Leu79CysfsTer3; GJB2:c.299_300del, p.His100ArgfsTer14; GJB2:p.Val193Glu; GJB2:c.96C>T, p.Arg32=; GJB2:c.231G>A, p.Trp77Ter; GJB2:c.427C>T, p.Arg143Trp; GJB2:c.235delC, p.Leu79fs; GJB2:c.299_300del, p.His100ArgfsTer14
3 diseases linked to GJB2 Waardenburg syndrome; Rare genetic deafness; Non-syndromic genetic deafness
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