TPO Chromosome 2

Thyroid peroxidase
137 variants 137 Health Risk

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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
RS114406277 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS116390200 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1167826982 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1210957618 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1227856624 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS138289170 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS140322336 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, TPO-related disorder, Deficiency of iodide peroxidase
RS141684908 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS142148533 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, TPO-related disorder, Deficiency of iodide peroxidase
RS149718460 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS151122101 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS151154074 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS182021224 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS183118123 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS184087573 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS187974063 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS190968346 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS199621917 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS200796513 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Inborn genetic diseases, Deficiency of iodide peroxidase
RS201165648 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Congenital hypothyroidism, Deficiency of iodide peroxidase
RS201659055 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS201781919 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28909989 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28910598 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28910612 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28912997 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28913014 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28915686 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28991292 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS370072872 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, TPO-related disorder, Deficiency of iodide peroxidase
RS373213982 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS373350060 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS374558153 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS546535782 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS554989865 Health Risk Conflicting classifications of pathogenicity —
RS61748996 Health Risk Conflicting classifications of pathogenicity TPO-related disorder, Inborn genetic diseases, TPO-related disorder
RS61758084 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS747010460 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS749486726 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS757051221 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS757494249 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS760976450 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS763673114 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS886054899 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS886054900 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Inborn genetic diseases, Deficiency of iodide peroxidase
RS9678281 Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1057518950 Health Risk Likely pathogenic 7 conditions, Deficiency of iodide peroxidase, 7 conditions
RS1322189326 Health Risk Likely pathogenic —
RS1382787497 Health Risk Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1385139268 Health Risk Likely pathogenic Congenital hypothyroidism, Congenital hypothyroidism
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