Name | thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) |
Symbol | THRB |
Aliases | GRTH; THR1; ERBA2; NR1A2; THRB1; THRB2; ERBA-BETA; oncogene ERBA2; generalized resistance to thyroid hormone; avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2 |
Gene Product | - thyroid hormone receptor, beta
|
Category | |
UniGene |
Hs.203213
|
Reference Sequence |
|
OMIM and SNP |
|
Locus |
|
Summary | 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. Defects 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). |
Gene Ontology | |
Expression | EST (108 ESTs, 52 libraries) |
Tissue | Breadth ? |
CPM ? |
adipose | | | brain | | | cartilage | | | colon | | | ear | | | eye | | | heart | | | kidney | | | liver | | | lung | | | mammary gland | | | muscle | | | oral cavity | | | ovary | | | pancreas | | | placenta | | | prostate | | | stomach | | | uncharacterized tissue | | | vascular | | |
|
SAGE (3131672 tags, 53 libraries) |
Tissue | Breadth ? |
CPM ? |
brain | | | colon | | | eye | | | foreskin | | | mammary gland | | | muscle | | | nervous | | | ovary | | | prostate | | | stomach | | | uncharacterized tissue | | |
|
|
Evidence | Mutation in Kidney Neoplasms
Other key publications related to this gene
|