TRHR thyrotropin releasing hormone receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRHRprovided by HGNC
Official Full Name: thyrotropin releasing hormone receptorprovided by HGNC
Primary source: HGNC:HGNC:12299
See related: Ensembl:ENSG00000174417 MIM:188545; AllianceGenome:HGNC:12299
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CHNG7; TRH-R
Summary: This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 8q23.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (109086585..109121565)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (110215119..110250098)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (110098814..110133794)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results demonstrate for the first time that not only agonist binding but also abundance of some signaling proteins may strongly affect TRH receptor dynamics in the plasma membrane
Title: TRH receptor mobility in the plasma membrane is strongly affected by agonist binding and by interaction with some cognate signaling proteins.
a unique missense TRHR defect identified in a consanguineous family is associated with central hypothyroidism in homozygotes and hyperthyrotropinemia in heterozygotes, suggesting compensatory elevation of TSH with reduced biopotency; the I131T mutation decreases TRH binding and TRHR-Gq coupling and signaling
Title: Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.
rs16892496 polymorphism in the TRHR gene may play a role in FFM variation.
Title: Association between polymorphisms in the TRHR gene, fat-free mass, and muscle strength in older women.
The precoupling of receptors with their cognate G-proteins can contribute to faster G-protein activation and subsequent signal transfer into the cell interior.
Title: Identification of a preassembled TRH receptor-G(q/11) protein complex in HEK293 cells.
Data show that interactions of TRHR with GRKs and phosphatases are determined not simply by the amino acid sequences of the substrates, but by regions outside the cytoplasmic tails.
Title: Importance of regions outside the cytoplasmic tail of G-protein-coupled receptors for phosphorylation and dephosphorylation.
A mutation in thyrotropin-releasing hormone receptor almost completely prevented receptor phosphorylation.
Title: Role of helix 8 of the thyrotropin-releasing hormone receptor in phosphorylation by G protein-coupled receptor kinase.
analysis of the effect of subcellular trafficking of the TRH receptor
Title: Subcellular trafficking of the TRH receptor: effect of phosphorylation.
TRHR gene is an important gene for LBM variation.
Title: Genome-wide association and replication studies identified TRHR as an important gene for lean body mass.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association and replication studies identified TRHR as an important gene for lean body mass.
Observational study of gene-disease association. (HuGE Navigator)
Title: Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypothyroidism, congenital, nongoitrous, 7 MedGen: C1861106 OMIM: 618573 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association and replication studies identified TRHR as an important gene for lean body mass. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif downregulates the expression of thyrotropin-releasing hormone receptor (TRHR) in Vif-expression T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483402

TRHR (e-PCR)
- UniSTS:279216

NoName (e-PCR)
- UniSTS:481535

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables thyrotropin-releasing hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: thyrotropin-releasing hormone receptor

Names: thyroliberin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_017161.1 RefSeqGene

Range

4139..39119

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003301.7 → NP_003292.1 thyrotropin-releasing hormone receptor

See identical proteins and their annotated locations for NP_003292.1

Status: VALIDATED

Source sequence(s)

AC104945

Consensus CDS

CCDS6311.1

UniProtKB/Swiss-Prot

P34981, Q2M339

Related

ENSP00000430711.2, ENST00000518632.2

Conserved Domains (1) summary

cd14995
Location:26 → 331

7tmA_TRH-R; thyrotropin-releasing hormone receptor, member of the class A family of seven-transmembrane G protein-coupled receptors