Details for Gene USH2A

GENE NAME USH2A
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000042781
UNIPROT ACCESSION NUMBER O75445
GO MOLECULAR FUNCTION ['myosin binding', 'collagen binding', 'identical protein binding', 'protein binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
11 combinations linked to USH2A OLI106; OLI121; OLI449; OLI101; OLI1663; OLI107; OLI1319; OLI552; OLI120; OLI103; OLI105
16 variants linked to USH2A USH2A:p.Gly1301Val; USH2A:p.Cys3307Trp; USH2A:p.Cys536Arg; USH2A:c.3920C>G, p.Ser1307Ter; USH2A:p.Ser5030Ter; USH2A:c.4031_4038del, p.Met1344LysfsTer42; USH2A:c.4338_4339del, p.Cys1447GlnfsTer29; USH2A:c.4515_4518del, p.Arg1505SerfsTer7; USH2A:p.Thr4439Ile; USH2A:c.2802T>G, p.Cys934Trp; USH2A:c.13939G>C, p.Gly4647Arg; USH2A:c.10830G>C, p.Trp3610Cys; USH2A:c.1000C>T, p.Arg334Trp; USH2A:c.12560G>A, p.Arg4187His; USH2A:c.997T>C, ; USH2A:c.7334C>T, p.Ser2445Phe
5 diseases linked to USH2A Usher syndrome type 1; Usher syndrome type 2; Bardet-Biedl syndrome; Rare genetic deafness; Retinitis pigmentosa
Found any issues with the data on this page? Report this entry.