| GENE NAME | DUOXA2 |
| CHROMOSOME | 15 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000140274 |
| UNIPROT ACCESSION NUMBER | Q1HG44 |
| GO MOLECULAR FUNCTION | ['enzyme binding', 'protein binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa04918 |
| 14 combinations linked to DUOXA2 | OLI993; OLI1091; OLI1505; OLI1492; OLI992; OLI1804; OLI566; OLI1174; OLI991; OLI994; OLI466; OLI562; OLI470; OLI1486 |
| 10 variants linked to DUOXA2 | DUOXA2:p.Arg94Cys; DUOXA2:p.Tyr246Ter; DUOXA2:c.398G>A, p.Arg133His; DUOXA2:c.738C>A, p.Tyr246Ter; DUOXA2:c.93T>G, p.Phe31Leu; DUOXA2:c.413dupA, p.Tyr138Ter; DUOXA2:c.739G>C, p.Gly247Arg; DUOXA2:c.671T>C, p.Leu224Ser; DUOXA2:c.738C>G, p.Tyr246Ter; DUOXA2:c.413dupA, p.Tyr138_Ala139_delinsTer |
| 1 disease linked to DUOXA2 | Congenital hypothyroidism |