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

Gene ID: 7253, updated on 3-Jun-2018
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; Vega:OTTHUMG00000171429
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
See TSHR in Genome Data Viewer
Location:
14q31.1
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (80954989..81146302)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (81421333..81612646)

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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
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

NHGRI GWAS Catalog

Description
A genome-wide association study identifies two new risk loci for Graves' disease.
NHGRI GWA Catalog
A genome-wide association study of serum uric acid in African Americans.
NHGRI GWA Catalog
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
NHGRI GWA Catalog
Genome-wide association study identifies three novel genetic markers associated with elite endurance performance.
NHGRI GWA Catalog
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
NHGRI GWA Catalog
  • Arf6 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Arf6 signaling events, organism-specific biosystem
    Arf6 signaling events
  • Arf6 trafficking events, organism-specific biosystem (from Pathway Interaction Database)
    Arf6 trafficking events, organism-specific biosystem
    Arf6 trafficking events
  • Autoimmune thyroid disease, organism-specific biosystem (from KEGG)
    Autoimmune thyroid disease, organism-specific biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
  • Autoimmune thyroid disease, conserved biosystem (from KEGG)
    Autoimmune thyroid disease, conserved biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Hormone ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Hormone ligand-binding receptors, organism-specific biosystemThe class A (rhodopsin-like) GPCRs that bind to hormone ligands are annotated here. The hormones follicle-stimulating hormone (FSH), luteinizing hormone (LH), thyroid-stimulating hormone (TSH) and hu...
  • Human Thyroid Stimulating Hormone (TSH) signaling pathway, organism-specific biosystem (from WikiPathways)
    Human Thyroid Stimulating Hormone (TSH) signaling pathway, organism-specific biosystemHuman thyroid stimulating hormone (TSH) is a glycoprotein hormone secreted from the anterior pituitary lobe, which plays an important physiological role in regulation of the hypothalamus-pituitary-th...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
    Peptide GPCRs, organism-specific biosystem
    Peptide GPCRs
  • Regulation of lipolysis in adipocytes, organism-specific biosystem (from KEGG)
    Regulation of lipolysis in adipocytes, organism-specific biosystemLipolysis in adipocytes, the hydrolysis of triacylglycerol (TAG) to release fatty acids (FAs) and glycerol for use by other organs as energy substrates, is a unique function of white adipose tissue. ...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
    Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Thyroid hormone synthesis, conserved biosystem (from KEGG)
    Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Thyroxine (Thyroid Hormone) Production, organism-specific biosystem (from WikiPathways)
    Thyroxine (Thyroid Hormone) Production, organism-specific biosystemThyroxine hormone is produced in the thyroid gland from tyrosine and iodine. Thyrotropin-releasing hormone (TRH) is produced by the hypothalamus. It stimulates the production of thyroid-stimulating h...
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC75129

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein coupled peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
signaling receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
thyroid-stimulating hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thyroid-stimulating hormone receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intracellular IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
thyrotropin receptor
Names
TSH receptor
seven transmembrane helix receptor
thyroid stimulating hormone receptor, isoform 2
thyrotropin receptor-I, hTSHR-I

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_000369.2NP_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)
    AL136040, BC024205, M31774, R51015
    Consensus CDS
    CCDS9872.1
    UniProtKB/Swiss-Prot
    P16473
    UniProtKB/TrEMBL
    A0A0A0MTJ0
    Related
    ENSP00000298171.2, ENST00000298171.6
    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. NM_001018036.2NP_001018046.1  thyrotropin receptor isoform 2 precursor

    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, OTTHUMP00000246011, ENST00000342443.10, OTTHUMT00000413366
    Conserved Domains (2) summary
    sd00033
    Location:5477
    LRR_RI; leucine-rich repeat [structural motif]
    cl26222
    Location:66221
    LRR_5; Leucine rich repeats (6 copies)
  3. NM_001142626.2NP_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)
    AC007262, BC024205, BC108653, BC127628
    Consensus CDS
    CCDS55935.1
    UniProtKB/Swiss-Prot
    P16473
    Related
    ENSP00000450549.1, OTTHUMP00000246014, ENST00000554435.1, OTTHUMT00000413370
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    80954989..81146302
    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, OTTHUMP00000246010, ENST00000541158.6, OTTHUMT00000413364
    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]
    cl26222
    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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