TRHR Gene - Thyrotropin Releasing Hormone Receptor
Comprehensive genomic and functional analysis of the TRHR gene
Gene Information Card
| Symbol | TRHR |
|---|---|
| Full Name | Thyrotropin Releasing Hormone Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 8q23.1 |
| NCBI Gene ID | 7201 ncbi.nlm.nih.gov/gene/7201 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | P34981 |
| OMIM ID | 188545 |
| HGNC ID | 12299 |
| Aliases | TRH-R, TRHR1 |
Description
The TRHR gene encodes the thyrotropin-releasing hormone receptor, a G protein-coupled receptor primarily expressed in the anterior pituitary. Binding of TRH to this receptor stimulates the release of thyroid-stimulating hormone (TSH) and prolactin, playing a central role in the hypothalamic-pituitary-thyroid axis. Loss-of-function mutations in TRHR are associated with central hypothyroidism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Central hypothyroidism | Loss-of-function mutations in TRHR impair TRH signaling, reducing TSH secretion and causing secondary hypothyroidism. | ClinVar, OMIM |
| Thyrotropin-releasing hormone resistance | Homozygous or compound heterozygous mutations in TRHR lead to resistance to TRH, resulting in isolated central hypothyroidism. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary | 12.5 | High |
| Brain (cerebellum) | 1.2 | Low |
| Testis | 0.8 | Low |
| Adrenal gland | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.3 | Low expression |
| SH-SY5Y | 0.1 | Not detected |
| HepG2 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.19C>T (p.Arg7Cys) | Missense | <0.01% | Loss of function; reduced cell surface expression |
| c.335G>A (p.Arg112Gln) | Missense | <0.01% | Loss of function; impaired TRH binding |
| c.556C>T (p.Arg186*) | Nonsense | <0.01% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most reported TRHR mutations are loss-of-function, leading to reduced receptor expression or impaired TRH binding, causing central hypothyroidism.
Gain of Function (GOF)
No gain-of-function mutations have been reported in TRHR.
Dominant Negative (DN)
No dominant-negative mutations have been described for TRHR.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • thyrotropin-releasing hormone receptor activity |
| • G protein-coupled receptor signaling pathway | • adenylate cyclase-activating G protein-coupled receptor signaling pathway |
| • positive regulation of TSH secretion | • positive regulation of prolactin secretion |
Pathways
• Thyrotropin-releasing hormone signaling pathway
• Hypothalamic-pituitary-thyroid axis
Protein Summary
The TRHR protein is a 398-amino acid G protein-coupled receptor with seven transmembrane domains. It is located on the cell surface of pituitary thyrotropes and lactotropes. Upon binding TRH, it activates Gq/11 proteins, leading to phospholipase C activation, calcium mobilization, and subsequent TSH and prolactin release. The receptor is essential for normal thyroid function and metabolic regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRHR Knockout HEK293 Cell Line | EDJ-KQ1605 | Human | 7201 | Details Get a Quote |
| TRHR Knockout HeLa Cell Line | EDJ-KQ54692 | Human | 7201 | Details Get a Quote |
| TRHR Knockout A-549 Cell Line | EDJ-KQ63177 | Human | 7201 | Details Get a Quote |
| TRHR Knockout HCT 116 Cell Line | EDJ-KQ71649 | Human | 7201 | Details Get a Quote |
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