THRB Chromosome 3
Thyroid hormone receptor beta
Upload your DNA to see your personal genotypes for variants in THRB.
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. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Thyroid hormone receptors
Locus Type
gene with protein product
Location
3p24.2
Ensembl
ENSG00000151090
Associated Conditions (15)
Thyroid hormone resistance
generalized
autosomal dominant
See cases
THRB-related disorder
Inborn genetic diseases
Hyperthyroidism
Generalized resistance to thyroid hormone
Neurodevelopmental disorder
autosomal recessive
Thyroid hormone resistance syndrome
Selective pituitary resistance to thyroid hormone
resistance to thyroid hormone (RTH)
Macular dystrophy
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Key Variants
RS114070375
Conflicting classifications of pathogenicity
Thyroid hormone resistance, generalized, autosomal dominant
Health Risk
RS141495471
Conflicting classifications of pathogenicity
Thyroid hormone resistance, generalized, autosomal dominant
Health Risk
RS141731067
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146617205
Conflicting classifications of pathogenicity
Health Risk
RS1553611086
Conflicting classifications of pathogenicity
Health Risk
RS1559388949
Conflicting classifications of pathogenicity
Hyperthyroidism, Hyperthyroidism
Health Risk
RS1559401356
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1559415493
Conflicting classifications of pathogenicity
Health Risk
RS2148780678
Conflicting classifications of pathogenicity
Thyroid hormone resistance, generalized, autosomal dominant
Health Risk
RS2148833747
Conflicting classifications of pathogenicity
Health Risk
RS2471729239
Conflicting classifications of pathogenicity
THRB-related disorder, THRB-related disorder
Health Risk
RS28999969
Conflicting classifications of pathogenicity
Thyroid hormone resistance, generalized, autosomal dominant
Health Risk
All Variants (75)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918709 | Health Risk | Pathogenic | Selective pituitary resistance to thyroid hormone, Selective pituitary resistance to thyroid hormone |
| RS1553609119 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553609152 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553609167 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553609179 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553609185 | Health Risk | Pathogenic | Thyroid hormone resistance syndrome, Thyroid hormone resistance, generalized |
| RS1553609195 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553610974 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553611038 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553611075 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553611083 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553611094 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS2148894604 | Health Risk | Pathogenic | — |
| RS2471597566 | Health Risk | Pathogenic | Generalized resistance to thyroid hormone, Generalized resistance to thyroid hormone |
| RS2471598456 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS2471599633 | Health Risk | Pathogenic | Selective pituitary resistance to thyroid hormone, Selective pituitary resistance to thyroid hormone |
| RS2471728089 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS2474261231 | Health Risk | Pathogenic | Macular dystrophy, Macular dystrophy |
| RS28999971 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS387906515 | Health Risk | Pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS886043743 | Health Risk | Pathogenic | — |
| RS121918708 | Health Risk | Pathogenic/Likely pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553609090 | Health Risk | Pathogenic/Likely pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS1553609210 | Health Risk | Pathogenic/Likely pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |
| RS28933408 | Health Risk | Pathogenic/Likely pathogenic | Thyroid hormone resistance, generalized, autosomal dominant |