Details for Gene DUOX2

GENE NAME DUOX2
CHROMOSOME 15
ENSEMBL ID None
ENTREZ ID ENSG00000140279
UNIPROT ACCESSION NUMBER Q9NRD8
GO MOLECULAR FUNCTION ['heme binding', 'NADPH oxidase H202-forming activity', 'NADH oxidase H202-forming activity', 'calcium ion binding', 'peroxidase activity', 'NAD(P)H oxidase H2O2-forming activity', 'protein binding', 'superoxide-generating NAD(P)H oxidase activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04918; R-HSA-1430728; R-HSA-209776; R-HSA-209968; R-HSA-71291
65 combinations linked to DUOX2 OLI473; OLI1497; OLI467; OLI567; OLI583; OLI592; OLI1023; OLI1080; OLI1081; OLI1085; OLI1496; OLI565; OLI1024; OLI1503; OLI465; OLI1504; OLI1807; OLI1486; OLI040; OLI986; OLI1805; OLI1502; OLI987; OLI1074; OLI032; OLI1078; OLI991; OLI1483; OLI1484; OLI591; OLI1494; OLI518; OLI1083; OLI1808; OLI468; OLI562; OLI1022; OLI1088; OLI990; OLI1485; OLI470; OLI1020; OLI590; OLI031; OLI1481; OLI1077; OLI1487; OLI1084; OLI564; OLI1175; OLI474; OLI1089; OLI988; OLI1491; OLI1806; OLI1499; OLI989; OLI594; OLI1501; OLI563; OLI1804; OLI1021; OLI992; OLI1076; OLI1482
52 variants linked to DUOX2 DUOX2:c.1395_1396delCC, p.Gln466GlyfsTer49; DUOX2:c.3329G>A, p.Arg1110Gln; DUOX2:c.1300C>T, p.Arg434Ter; DUOX2:p.Val779Met; DUOX2:p.Ala1206Thr; DUOX2:p.Lys530Ter; DUOX2:p.Asp137Glu; DUOX2:p.Arg432His; DUOX2:p.Arg885Leu; DUOX2:c.3693+1G>T, ; DUOX2:p.Val407Phe; DUOX2:c.2895_2898delGTTC, p.Phe966SerfsTer29; DUOX2:c.280G>A, p.Gly94Ser; DUOX2:c.3632G>A, p.Arg1211His; DUOX2:c.2779A>G, p.Met927Val; DUOX2:c.4537G>C, p.Gly1513Arg; DUOX2:c.227C>T, p.Pro76Leu; DUOX2:c.2048G>T, p.Arg683Leu; DUOX2:c.4027C>T, p.Leu1343Phe; DUOX2:c.2148+1G>T, ; DUOX2:p.Arg726Trp; DUOX2:p.Glu1546Gly; DUOX2:p.Ala728Thr; DUOX2:p.Glu641Lys; DUOX2:p.Gly201Glu; DUOX2:p.Arg701Gln; DUOX2:p.Pro982Ala; DUOX2:c.127A>T, p.Asn43Tyr; DUOX2:c.608_619del, p.Leu203_Pro207delinsPro; DUOX2:c.3516_3531del, p.Lys1174SerfsTer12; DUOX2:c.2654G>T, p.Arg885Leu; DUOX2:c.959T>C, p.Leu320Pro; DUOX2:c.3799C>T, p.Arg126Trp; DUOX2:c.4156G>A, p.Gly1386Ser; DUOX2:c.2895_2898del, p.Phe966SerfsTer29; DUOX2:c.2597T>G, p.Met866Arg; DUOX2:c.3367G>A, p.Ala1123Thr; DUOX2:c.4537G>A, p.Gly1513Arg; DUOX2:c.1428C>A, p.Asn476Lys; DUOX2:c.1097C>T, p.Ala366Val; DUOX2:c.1873C>T, p.Arg625Ter; DUOX2:c.2335G>A, p.Val779Met; DUOX2:c.2894C>T, p.Ser965Leu; DUOX2:p.Arg885Gln; DUOX2:c.1300_1320del, p.434_440del; DUOX2:c.505C>T, p.Arg169Trp; DUOX2:c.3791G>A, p.Ser1264Asn; DUOX2:c.1588A>T, p.Lys530Ter; DUOX2:c.4537G>C, p.Gly1513Arg; DUOX2:c.608-619del, p.Leu203-Pro207delinsProAla; DUOX2:c.121T>C, p.Trp41Arg; DUOX2:c.2654G>A, p.Arg885Gln
1 disease linked to DUOX2 Congenital hypothyroidism
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