TSHR thyroid stimulating hormone receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSHRprovided by HGNC
Official Full Name: thyroid stimulating hormone receptorprovided by HGNC
Primary source: HGNC:HGNC:12373
See related: Ensembl:ENSG00000165409 MIM:603372; AllianceGenome:HGNC:12373
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LGR3; CHNG1; hTSHR-I
Summary: The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Expression: Restricted expression toward thyroid (RPKM 104.1) See more
Orthologs: mouse all
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Genomic context

Location:: 14q31.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (80955621..81146306)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (75167122..75358539)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (81421965..81612650)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A Novel TSHR Gene Mutation in a Family with Non-autoimmune Hyperthyroidism.
Title: A Novel TSHR Gene Mutation in a Family with Non-autoimmune Hyperthyroidism.
TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.
Title: TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.
Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.
Title: Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.
Somatostatin Receptor Type 2 and Thyroid-Stimulating Hormone Receptor Expression in Oncocytic Thyroid Neoplasms: Implications for Prognosis and Treatment.
Title: Somatostatin Receptor Type 2 and Thyroid-Stimulating Hormone Receptor Expression in Oncocytic Thyroid Neoplasms: Implications for Prognosis and Treatment.
Molecular investigation of TSHR gene in Bangladeshi congenital hypothyroid patients.
Title: Molecular investigation of TSHR gene in Bangladeshi congenital hypothyroid patients.
Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants.
Title: Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants.
Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.
Title: Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.
[Pathogenic TSHR variants in children with thyroid dysgenesis].
Title: [Pathogenic TSHR variants in children with thyroid dysgenesis].
Risk of malignancy in cytologically indeterminate thyroid nodules harboring thyroid stimulating hormone receptor mutations.
Title: Risk of malignancy in cytologically indeterminate thyroid nodules harboring thyroid stimulating hormone receptor mutations.
Autoantibody mimicry of hormone action at the thyrotropin receptor.
Title: Autoantibody mimicry of hormone action at the thyrotropin receptor.

Submit: New GeneRIF Correction See all GeneRIFs (269)

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
Familial gestational hyperthyroidism MedGen: C1863959 OMIM: 603373 GeneReviews: Not available	Compare labs
Familial hyperthyroidism due to mutations in TSH receptor MedGen: C1836706 OMIM: 609152 GeneReviews: Not available	Compare labs
Hypothyroidism due to TSH receptor mutations MedGen: C3493776 OMIM: 275200 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies two new risk loci for Graves' disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of serum uric acid in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in the trichohyalin gene are associated with straight hair in Europeans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel genetic markers associated with elite endurance performance. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1228 (e-PCR)
- UniSTS:26126

G32959 (e-PCR)
- UniSTS:117536

SHGC-172293 (e-PCR)
- UniSTS:182838

RH44680 (e-PCR)
- UniSTS:41021

TSHR_736 (e-PCR)
- UniSTS:277845

TSHR_V97 (e-PCR)
- UniSTS:277845

SHGC-105515 (e-PCR)
- UniSTS:169327

G35751 (e-PCR)
- UniSTS:47223

SGC33437 (e-PCR)
- UniSTS:41105

RH66833 (e-PCR)
- UniSTS:55703

A009X38 (e-PCR)
- UniSTS:65709

TSHR (e-PCR)
- UniSTS:479972

RH70226 (e-PCR)
- UniSTS:48612

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled peptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables thyroid-stimulating hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables thyroid-stimulating hormone receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS Traceable Author Statement more info	PubMed
involved_in activation of adenylate cyclase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell surface receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to glycoprotein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to thyrotropin-releasing hormone	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hormone-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in thyroid-stimulating hormone signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: thyrotropin receptor

Names: TSH receptor; seven transmembrane helix receptor; thyrotropin receptor-I, hTSHR-I

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_009206.1 RefSeqGene

Range

5001..195778

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_523

mRNA and Protein(s)

NM_000369.5 → NP_000360.2 thyrotropin receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_000360.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).

Source sequence(s)

AC007262, AC010072, AL136040

Consensus CDS

CCDS9872.1

UniProtKB/TrEMBL

A0A0A0MTJ0, Q59GA2

Related

ENSP00000298171.2, ENST00000298171.7

Conserved Domains (4) summary

sd00033
Location:54 → 77

LRR_RI; leucine-rich repeat [structural motif]

pfam00001
Location:431 → 678

7tm_1; 7 transmembrane receptor (rhodopsin family)

pfam13306
Location:66 → 221

LRR_5; Leucine rich repeats (6 copies)

cl21561
Location:417 → 609

7tm_4; Olfactory receptor
NM_001018036.3 → NP_001018046.1 thyrotropin receptor isoform 2

See identical proteins and their annotated locations for NP_001018046.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also called ST4, differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

BC024205, BC063613

Consensus CDS

CCDS32131.1

UniProtKB/TrEMBL

Q0VAP8

Related

ENSP00000340113.6, ENST00000342443.10

Conserved Domains (2) summary

sd00033
Location:54 → 77

LRR_RI; leucine-rich repeat [structural motif]

pfam13306
Location:66 → 221

LRR_5; Leucine rich repeats (6 copies)
NM_001142626.3 → NP_001136098.1 thyrotropin receptor isoform 3 precursor

See identical proteins and their annotated locations for NP_001136098.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus and contains an alternate internal segment compared to isoform 1.

Source sequence(s)

BC024205, BC108653, BC127628

Consensus CDS

CCDS55935.1

UniProtKB/TrEMBL

Q0VAP8

Related

ENSP00000450549.1, ENST00000554435.1

Conserved Domains (2) summary

sd00033
Location:54 → 77

LRR_RI; leucine-rich repeat [structural motif]

pfam13306
Location:66 → 221

LRR_5; Leucine rich repeats (6 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

80955621..81146306

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011537119.3 → XP_011535421.1 thyrotropin receptor isoform X1

UniProtKB/TrEMBL

Q59GA2

Conserved Domains (3) summary

sd00033
Location:54 → 84

LRR_RI; leucine-rich repeat [structural motif]

pfam00001
Location:338 → 585

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:324 → 516

7tm_4; Olfactory receptor