HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TRHR
thyrotropin releasing hormone receptor
Chromosome 8 Β· 8q23.1
NCBI Gene: 7201Ensembl: ENSG00000174417.3HGNC: HGNC:12299UniProt: P34981
37PubMed Papers
21Diseases
3Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingplasma membranethyrotropin-releasing hormone receptor activityphospholipase C-activating G protein-coupled receptor signaling pathwayhypothyroidism, congenital, nongoitrous, 7central nervous system diseasecerebellar ataxiaessential hypertension
✦AI Summary

TRHR (thyrotropin-releasing hormone receptor) is a G-protein-coupled receptor located on chromosome 8 that mediates TRH signaling through activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway 1. Beyond its classical role in thyroid hormone regulation, TRHR significantly influences lean body mass (LBM) and muscle metabolism. Genome-wide association studies identified TRHR polymorphisms (rs16892496 and rs7832552) associated with LBM variation, with carriers of unfavorable genotypes showing 2.5-2.7 kg lower LBM 2. The rs16892496 variant also correlates with reduced appendicular fat-free mass and muscle strength in older women 3. Clinically, TRHR mutations cause central congenital hypothyroidism (CCH), an underdiagnosed disorder characterized by deficient TSH production 4. A documented missense mutation (I131T) impairs TRH binding affinity and Gq protein coupling, causing moderate hypothyroidism in homozygotes and hyperthyrotropinemia in heterozygotes 5. TRHR mutations account for a subset of CCH cases 6, with an estimated carrier frequency of 0.059% in the general population 7. Additionally, aberrant TRHR expression occurs in pituitary somatotroph tumors, contributing to endocrine tumorigenesis 8.

Sources cited
1
TRHR structure as G-protein-coupled receptor with seven transmembrane domains located on chromosome 8q23
PMID: 9702078
2
TRHR polymorphisms rs16892496 and rs7832552 associated with lean body mass variation (2.5-2.7 kg difference)
PMID: 19268274
3
rs16892496 polymorphism correlates with appendicular fat-free mass and muscle strength in older women
PMID: 23543262
4
TRHR mutations cause central congenital hypothyroidism through defects in TSH synthesis/bioactivity
PMID: 25231446
5
I131T TRHR mutation impairs TRH ligand affinity and Gq protein transactivation, causing central hypothyroidism
PMID: 28419241
6
TRHR variants identified in Chinese patients with congenital hypothyroidism
PMID: 32319661
7
TRHR carrier frequency of 0.059% in general population contributing to congenital hypothyroidism genetic prevalence
PMID: 34200080
8
Aberrant TRHR expression in pituitary somatotroph tumors contributes to endocrine tumorigenesis
PMID: 39326429
Disease Associationsβ“˜21
hypothyroidism, congenital, nongoitrous, 7Open Targets
0.73Strong
central nervous system diseaseOpen Targets
0.46Moderate
cerebellar ataxiaOpen Targets
0.39Weak
essential hypertensionOpen Targets
0.34Weak
hypertensionOpen Targets
0.34Weak
smoking initiationOpen Targets
0.33Weak
liver diseaseOpen Targets
0.32Weak
brain diseaseOpen Targets
0.31Weak
diabetic neuropathyOpen Targets
0.30Weak
Abnormal pupillary functionOpen Targets
0.28Weak
Parkinson diseaseOpen Targets
0.26Weak
Spinocerebellar tract degenerationOpen Targets
0.26Weak
androgenetic alopeciaOpen Targets
0.25Weak
prostatitisOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
Schnyder corneal dystrophyOpen Targets
0.07Suggestive
X-linked central congenital hypothyroidism with late-onset testicular enlargementOpen Targets
0.06Suggestive
intelligenceOpen Targets
0.06Suggestive
46,XX gonadal dysgenesisOpen Targets
0.06Suggestive
schizophreniaOpen Targets
0.06Suggestive
Hypothyroidism, congenital, non-goitrous, 7UniProt
Pathogenic Variants5
NM_003301.7(TRHR):c.597_598del (p.Phe199fs)Likely pathogenic
Hypothyroidism, congenital, nongoitrous, 7
β˜…β˜†β˜†β˜†2024β†’ Residue 199
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)Likely pathogenic
Hypothyroidism, congenital, nongoitrous, 7
β˜…β˜†β˜†β˜†2020β†’ Residue 115
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg)Likely pathogenic
Hypothyroidism, congenital, nongoitrous, 7
β˜…β˜†β˜†β˜†2020β†’ Residue 81
NM_003301.7(TRHR):c.49C>T (p.Arg17Ter)Pathogenic
Hypothyroidism, congenital, nongoitrous, 7
β˜…β˜†β˜†β˜†2020β†’ Residue 17
NM_003301.7(TRHR):c.392T>C (p.Ile131Thr)Pathogenic
Hypothyroidism, congenital, nongoitrous, 7
β˜†β˜†β˜†β˜†2019β†’ Residue 131
View on ClinVar β†—
Drug Targets3
PROTIRELINApproved
Thyrotropin-releasing hormone receptor agonist
central nervous system disease
ROVATIRELINPhase III
Thyrotropin-releasing hormone receptor agonist
Parkinson disease
TALTIRELINApproved
Thyrotropin-releasing hormone receptor agonist
central nervous system disease
Related Genes
OXGR1Shared pathway100%TSHRProtein interaction100%GNASProtein interaction95%ARRB1Protein interaction91%TRHProtein interaction90%ARRB2Protein interaction86%
Tissue Expression6 tissues
Brain
100%
Ovary
25%
Lung
25%
Liver
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TRHROXGR1TSHRGNASARRB1TRHARRB2
PROTEIN STRUCTURE
Preparing viewer…
PDB7XW9 Β· 2.70 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.75LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.48 [0.32–0.75]
RankingsWhere TRHR stands among ~20K protein-coding genes
  • #10,715of 20,598
    Most Researched37
  • #679of 1,025
    FDA-Approved Drug Targets2
  • #3,608of 5,498
    Most Pathogenic Variants5
  • #5,952of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedTRHR
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genome-wide association and replication studies identified TRHR as an important gene for lean body mass.
PMID: 19268274
Am J Hum Genet Β· 2009
1.00
2
Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
PMID: 32319661
Mol Med Rep Β· 2020
0.90
3
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
PMID: 34200080
Genes (Basel) Β· 2021
0.80
4
[TRH receptor].
PMID: 9702078
Nihon Rinsho Β· 1998
0.70
5
Aberrant hormone receptors regulate a wide spectrum of endocrine tumors.
PMID: 39326429
Lancet Diabetes Endocrinol Β· 2024
0.60