DUOXA2 Chromosome 15
Dual oxidase maturation factor 2
Upload your DNA to see your personal genotypes for variants in DUOXA2.
What This Gene Does
This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Dual oxidase maturation factor family
Locus Type
gene with protein product
Location
15q21.1
Ensembl
ENSG00000140274
Associated Conditions (5)
Thyroglobulin synthesis defect
Congenital hypothyroidism
Inborn genetic diseases
DUOXA2-related disorder
Familial thyroid dyshormonogenesis
Key Variants
RS201506037
Conflicting classifications of pathogenicity
Thyroglobulin synthesis defect, Congenital hypothyroidism, Inborn genetic diseases
Health Risk
RS201808443
Conflicting classifications of pathogenicity
Congenital hypothyroidism, DUOXA2-related disorder, Inborn genetic diseases
Health Risk
RS767104514
Conflicting classifications of pathogenicity
Inborn genetic diseases, DUOXA2-related disorder, Inborn genetic diseases
Health Risk
RS769776095
Conflicting classifications of pathogenicity
Inborn genetic diseases, DUOXA2-related disorder, Inborn genetic diseases
Health Risk
RS377426710
Likely pathogenic
Thyroglobulin synthesis defect, Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
Health Risk
RS1555414714
Pathogenic
Health Risk
RS1555415049
Pathogenic
Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
Health Risk
RS2504803353
Pathogenic
Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
Health Risk
RS2504810072
Pathogenic
Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
Health Risk
RS770148072
Pathogenic
Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
Health Risk
RS781126484
Pathogenic
Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
Health Risk
RS4774518
Pathogenic/Likely pathogenic
Thyroglobulin synthesis defect, Inborn genetic diseases, Familial thyroid dyshormonogenesis
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201506037 | Health Risk | Conflicting classifications of pathogenicity | Thyroglobulin synthesis defect, Congenital hypothyroidism, Inborn genetic diseases |
| RS201808443 | Health Risk | Conflicting classifications of pathogenicity | Congenital hypothyroidism, DUOXA2-related disorder, Inborn genetic diseases |
| RS767104514 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DUOXA2-related disorder, Inborn genetic diseases |
| RS769776095 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DUOXA2-related disorder, Inborn genetic diseases |
| RS377426710 | Health Risk | Likely pathogenic | Thyroglobulin synthesis defect, Thyroglobulin synthesis defect, Thyroglobulin synthesis defect |
| RS1555414714 | Health Risk | Pathogenic | — |
| RS1555415049 | Health Risk | Pathogenic | Thyroglobulin synthesis defect, Thyroglobulin synthesis defect |
| RS2504803353 | Health Risk | Pathogenic | Thyroglobulin synthesis defect, Thyroglobulin synthesis defect |
| RS2504810072 | Health Risk | Pathogenic | Thyroglobulin synthesis defect, Thyroglobulin synthesis defect |
| RS770148072 | Health Risk | Pathogenic | Thyroglobulin synthesis defect, Thyroglobulin synthesis defect |
| RS781126484 | Health Risk | Pathogenic | Thyroglobulin synthesis defect, Thyroglobulin synthesis defect |
| RS4774518 | Health Risk | Pathogenic/Likely pathogenic | Thyroglobulin synthesis defect, Inborn genetic diseases, Familial thyroid dyshormonogenesis |
| RS778410503 | Health Risk | Pathogenic/Likely pathogenic | Thyroglobulin synthesis defect, Familial thyroid dyshormonogenesis, Thyroglobulin synthesis defect |
| RS974496530 | Health Risk | Pathogenic/Likely pathogenic | Thyroglobulin synthesis defect, Thyroglobulin synthesis defect |