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

    Gene ID: 7253, updated on 8-Jul-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
    109.20210514 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 109.20210514

    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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