THRA Chromosome 17
Thyroid hormone receptor alpha
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What This Gene Does
The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Thyroid hormone receptors
Locus Type
gene with protein product
Location
17q21.1
Ensembl
ENSG00000126351
Associated Conditions (4)
THRA-related disorder
Congenital nongoitrous hypothyroidism 6
Neurodevelopmental disorder
Inborn genetic diseases
Key Variants
RS188965373
Conflicting classifications of pathogenicity
THRA-related disorder, THRA-related disorder
Health Risk
RS199530759
Conflicting classifications of pathogenicity
Congenital nongoitrous hypothyroidism 6, THRA-related disorder, Congenital nongoitrous hypothyroidism 6
Health Risk
RS1987264133
Likely pathogenic
Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
Health Risk
RS1987333906
Likely pathogenic
Health Risk
RS2145085082
Likely pathogenic
Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
Health Risk
RS2145087228
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2544244746
Likely pathogenic
Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
Health Risk
RS2544246713
Likely pathogenic
Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
Health Risk
RS137853162
Pathogenic
Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
Health Risk
RS137853163
Pathogenic
Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
Health Risk
RS2145085179
Pathogenic
Health Risk
RS2145087272
Pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS188965373 | Health Risk | Conflicting classifications of pathogenicity | THRA-related disorder, THRA-related disorder |
| RS199530759 | Health Risk | Conflicting classifications of pathogenicity | Congenital nongoitrous hypothyroidism 6, THRA-related disorder, Congenital nongoitrous hypothyroidism 6 |
| RS1987264133 | Health Risk | Likely pathogenic | Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS1987333906 | Health Risk | Likely pathogenic | — |
| RS2145085082 | Health Risk | Likely pathogenic | Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS2145087228 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2544244746 | Health Risk | Likely pathogenic | Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS2544246713 | Health Risk | Likely pathogenic | Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS137853162 | Health Risk | Pathogenic | Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS137853163 | Health Risk | Pathogenic | Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS2145085179 | Health Risk | Pathogenic | — |
| RS2145087272 | Health Risk | Pathogenic | — |
| RS2145097039 | Health Risk | Pathogenic | Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS746765465 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS876657394 | Health Risk | Pathogenic | Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS876657395 | Health Risk | Pathogenic | Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS876657396 | Health Risk | Pathogenic | Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6 |
| RS1555545033 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Congenital nongoitrous hypothyroidism 6, Inborn genetic diseases |