TPO Chromosome 2
Thyroid peroxidase
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What This Gene Does
This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]
Gene Info
Gene Group
"Sushi domain containing|Heme peroxidase family"
Locus Type
gene with protein product
Location
2p25.3
Ensembl
ENSG00000115705
Associated Conditions (7)
Deficiency of iodide peroxidase
TPO-related disorder
Inborn genetic diseases
Congenital hypothyroidism
7 conditions
Neurodevelopmental disorder
Lung cancer
Key Variants
RS114406277
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
Health Risk
RS116390200
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
Health Risk
RS1167826982
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
Health Risk
RS1210957618
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
Health Risk
RS1227856624
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
Health Risk
RS138289170
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
Health Risk
RS140322336
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, TPO-related disorder, Deficiency of iodide peroxidase
Health Risk
RS141684908
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
Health Risk
RS142148533
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, TPO-related disorder, Deficiency of iodide peroxidase
Health Risk
RS149718460
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
Health Risk
RS151122101
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
Health Risk
RS151154074
Conflicting classifications of pathogenicity
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
Health Risk
All Variants (137)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2546096906 | Health Risk | Pathogenic | — |
| RS2546099890 | Health Risk | Pathogenic | — |
| RS2546164535 | Health Risk | Pathogenic | — |
| RS2546193322 | Health Risk | Pathogenic | — |
| RS2546193716 | Health Risk | Pathogenic | — |
| RS2546193734 | Health Risk | Pathogenic | — |
| RS2546193773 | Health Risk | Pathogenic | — |
| RS2546271493 | Health Risk | Pathogenic | — |
| RS2546334707 | Health Risk | Pathogenic | — |
| RS2546335765 | Health Risk | Pathogenic | — |
| RS2546802277 | Health Risk | Pathogenic | — |
| RS749174434 | Health Risk | Pathogenic | Deficiency of iodide peroxidase, Congenital hypothyroidism, Deficiency of iodide peroxidase |
| RS759809305 | Health Risk | Pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS760307139 | Health Risk | Pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS763459820 | Health Risk | Pathogenic | — |
| RS763662774 | Health Risk | Pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS763941231 | Health Risk | Pathogenic | Deficiency of iodide peroxidase, TPO-related disorder, Deficiency of iodide peroxidase |
| RS770731462 | Health Risk | Pathogenic | — |
| RS770781635 | Health Risk | Pathogenic | Deficiency of iodide peroxidase, Congenital hypothyroidism, Deficiency of iodide peroxidase |
| RS771978129 | Health Risk | Pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS774713681 | Health Risk | Pathogenic | Deficiency of iodide peroxidase, Congenital hypothyroidism, Deficiency of iodide peroxidase |
| RS776742629 | Health Risk | Pathogenic | TPO-related disorder, Deficiency of iodide peroxidase, TPO-related disorder |
| RS778515113 | Health Risk | Pathogenic | Neurodevelopmental disorder, Deficiency of iodide peroxidase, Lung cancer |
| RS779434941 | Health Risk | Pathogenic | — |
| RS948273081 | Health Risk | Pathogenic | — |
| RS957075099 | Health Risk | Pathogenic | — |
| RS121908085 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS121908086 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS121908088 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of iodide peroxidase, Congenital hypothyroidism, Deficiency of iodide peroxidase |
| RS1239225665 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS140731896 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS1450683528 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS186620709 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS556552435 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS766399662 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS772164623 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS867643439 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |