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

Gene ID: 7253, updated on 23-Nov-2021

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
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TSHR in Genome Data Viewer
Location:
14q31.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (80954989..81146306)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (81421965..81612650)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene DIO2 antisense RNA 1 Neighboring gene iodothyronine deiodinase 2 Neighboring gene centrosomal protein 128 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 2 Neighboring gene uncharacterized LOC105370596 Neighboring gene basic helix-loop-helix family member b9 pseudogene 1 Neighboring gene uncharacterized LOC101928462 Neighboring gene ribosomal protein L17 pseudogene 3 Neighboring gene NMNAT1 pseudogene 1 Neighboring gene uncharacterized LOC105370594 Neighboring gene general transcription factor IIA subunit 1 Neighboring gene small nucleolar RNA, H/ACA box 79

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies two new risk loci for Graves' disease.
GeneReviews: Not available
A genome-wide association study of serum uric acid in African Americans.
GeneReviews: Not available
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
GeneReviews: Not available
Genome-wide association study identifies three novel genetic markers associated with elite endurance performance.
GeneReviews: Not available
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
GeneReviews: Not available
Hyperthyroidism, familial gestational
MedGen: C1863959 OMIM: 603373 GeneReviews: Not available
Compare labs
Hyperthyroidism, nonautoimmune
MedGen: C1836706 OMIM: 609152 GeneReviews: Not available
Compare labs
Hypothyroidism, congenital, nongoitrous, 1
MedGen: C3493776 OMIM: 275200 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC75129

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
PubMed 
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
PubMed 
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
PubMed 
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred Names
thyrotropin receptor
Names
TSH receptor
seven transmembrane helix receptor
thyrotropin receptor-I, hTSHR-I

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_009206.1 RefSeqGene

    Range
    5001..195778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_523

mRNA and Protein(s)

  1. NM_000369.5NP_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/Swiss-Prot
    P16473
    UniProtKB/TrEMBL
    A0A0A0MTJ0
    Related
    ENSP00000298171.2, ENST00000298171.7
    Conserved Domains (4) summary
    sd00033
    Location:5477
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:431678
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam13306
    Location:66221
    LRR_5; Leucine rich repeats (6 copies)
    cl21561
    Location:417609
    7tm_4; Olfactory receptor
  2. NM_001018036.3NP_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/Swiss-Prot
    P16473
    Related
    ENSP00000340113.6, ENST00000342443.10
    Conserved Domains (2) summary
    sd00033
    Location:5477
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13306
    Location:66221
    LRR_5; Leucine rich repeats (6 copies)
  3. NM_001142626.3NP_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/Swiss-Prot
    P16473
    Related
    ENSP00000450549.1, ENST00000554435.1
    Conserved Domains (2) summary
    sd00033
    Location:5477
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13306
    Location:66221
    LRR_5; Leucine rich repeats (6 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    80954989..81146306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268037.4XP_005268094.1  thyrotropin receptor isoform X1

    See identical proteins and their annotated locations for XP_005268094.1

    UniProtKB/TrEMBL
    A0A0A0MTJ0
    Related
    ENSP00000441235.2, ENST00000541158.6
    Conserved Domains (4) summary
    sd00033
    Location:5477
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:431678
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam13306
    Location:66221
    LRR_5; Leucine rich repeats (6 copies)
    cl21561
    Location:417609
    7tm_4; Olfactory receptor
  2. XM_006720245.1XP_006720308.1  thyrotropin receptor isoform X3

    See identical proteins and their annotated locations for XP_006720308.1

    UniProtKB/Swiss-Prot
    P16473
    Conserved Domains (2) summary
    sd00033
    Location:5477
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13306
    Location:66221
    LRR_5; Leucine rich repeats (6 copies)
  3. XM_005268039.1XP_005268096.1  thyrotropin receptor isoform X4

    See identical proteins and their annotated locations for XP_005268096.1

    UniProtKB/Swiss-Prot
    P16473
    Conserved Domains (2) summary
    sd00033
    Location:5477
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13306
    Location:66221
    LRR_5; Leucine rich repeats (6 copies)
  4. XM_011537119.2XP_011535421.1  thyrotropin receptor isoform X2

    Conserved Domains (3) summary
    sd00033
    Location:5484
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:338585
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:324516
    7tm_4; Olfactory receptor
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