THRB

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]

Description

Thyroid hormone receptor beta

Tissue specificity

Low tissue specificity

Subcell location

Nuclear bodies

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Nuclear receptors
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

3 (24117153 - 24495756)

Ensembl ID

ENSG00000151090  (ver. 103.38)

Orthologs

Mouse Thrb: ENSMUSG00000021779

UniProt

P10828

neXtProt

NX_P10828

Human splice variants
Mouse splice variants

Protein structure