DUOX2 Chromosome 15
Dual oxidase 2
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What This Gene Does
The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"EF-hand domain containing|Flavoproteins|NADH oxidase family|Dual oxidase family"
Locus Type
gene with protein product
Location
15q21.1
Ensembl
ENSG00000140279
Associated Conditions (25)
Thyroid dyshormonogenesis 6
Melanoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Adrenocortical carcinoma
hereditary
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Sarcoma
Ovarian serous cystadenocarcinoma
Colorectal cancer
Cervical cancer
Gastric cancer
Thyroid cancer
nonmedullary
1
Lung cancer
DUOX2-related disorder
Inborn genetic diseases
+5 more conditions
Key Variants
RS112428007
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 6, Melanoma, Malignant tumor of esophagus
Health Risk
RS113632824
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 6, DUOX2-related disorder, Thyroid dyshormonogenesis 6
Health Risk
RS115310278
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
Health Risk
RS115865111
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1233050377
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
Health Risk
RS1304506273
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138005153
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
Health Risk
RS138306055
Conflicting classifications of pathogenicity
Health Risk
RS138358075
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138461488
Conflicting classifications of pathogenicity
Health Risk
RS138743322
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138774384
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 6, Congenital hypothyroidism, Thyroid dyshormonogenesis 6
Health Risk
All Variants (297)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2504764413 | Health Risk | Likely pathogenic | — |
| RS2504789080 | Health Risk | Likely pathogenic | — |
| RS371960046 | Health Risk | Likely pathogenic | Thyroid dyshormonogenesis 6, Colorectal cancer, Thyroid dyshormonogenesis 6 |
| RS377189285 | Health Risk | Likely pathogenic | — |
| RS549559724 | Health Risk | Likely pathogenic | Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS748793969 | Health Risk | Likely pathogenic | Nongoitrous Euthyroid Hyperthyrotropinemia, Thyroid dyshormonogenesis 6, Nongoitrous Euthyroid Hyperthyrotropinemia |
| RS753527559 | Health Risk | Likely pathogenic | Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS762701727 | Health Risk | Likely pathogenic | — |
| RS764013641 | Health Risk | Likely pathogenic | Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS764517475 | Health Risk | Likely pathogenic | — |
| RS778178479 | Health Risk | Likely pathogenic | Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS779861023 | Health Risk | Likely pathogenic | Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS781491435 | Health Risk | Likely pathogenic | — |
| RS941026356 | Health Risk | Likely pathogenic | — |
| RS977021576 | Health Risk | Likely pathogenic | DUOX2-related disorder, DUOX2-related disorder |
| RS1173244456 | Health Risk | Pathogenic | — |
| RS119472026 | Health Risk | Pathogenic | Thyroid dyshormonogenesis 6, Inborn genetic diseases, Thyroid dyshormonogenesis 6 |
| RS119472027 | Health Risk | Pathogenic | Thyroid dyshormonogenesis 6, Familial thyroid dyshormonogenesis, Thyroid dyshormonogenesis 6 |
| RS1220493082 | Health Risk | Pathogenic | — |
| RS1274423913 | Health Risk | Pathogenic | — |
| RS1284315880 | Health Risk | Pathogenic | — |
| RS1301718118 | Health Risk | Pathogenic | — |
| RS1380632698 | Health Risk | Pathogenic | — |
| RS139161034 | Health Risk | Pathogenic | Thyroid dyshormonogenesis 6, DUOX2-related disorder, Thyroid dyshormonogenesis 6 |
| RS1416639166 | Health Risk | Pathogenic | — |
| RS142407409 | Health Risk | Pathogenic | — |
| RS1430759473 | Health Risk | Pathogenic | — |
| RS1440661352 | Health Risk | Pathogenic | — |
| RS1460159434 | Health Risk | Pathogenic | — |
| RS1466329686 | Health Risk | Pathogenic | Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS1480917996 | Health Risk | Pathogenic | Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS148333059 | Health Risk | Pathogenic | — |
| RS1595527456 | Health Risk | Pathogenic | — |
| RS180671269 | Health Risk | Pathogenic | Thyroid dyshormonogenesis 6, DUOX2-related disorder, Familial thyroid dyshormonogenesis |
| RS181461079 | Health Risk | Pathogenic | Nongoitrous Euthyroid Hyperthyrotropinemia, Thyroid dyshormonogenesis 6, DUOX2-related disorder |
| RS1894090980 | Health Risk | Pathogenic | — |
| RS1894093770 | Health Risk | Pathogenic | — |
| RS1894219449 | Health Risk | Pathogenic | — |
| RS1894386318 | Health Risk | Pathogenic | Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS1894423425 | Health Risk | Pathogenic | — |
| RS199783724 | Health Risk | Pathogenic | — |
| RS201109959 | Health Risk | Pathogenic | Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS2141138964 | Health Risk | Pathogenic | — |
| RS2141143799 | Health Risk | Pathogenic | — |
| RS2141145828 | Health Risk | Pathogenic | Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS2141146617 | Health Risk | Pathogenic | — |
| RS2141151636 | Health Risk | Pathogenic | — |
| RS2141153735 | Health Risk | Pathogenic | — |
| RS2141160202 | Health Risk | Pathogenic | — |
| RS2504736239 | Health Risk | Pathogenic | — |