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

    Gene ID: 7253, updated on 10-Dec-2024

    Summary

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    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

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    See TSHR in Genome Data Viewer
    Location:
    14q31.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (80955621..81146306)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (75167122..75358539)
    RS_2024_09 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 OCT4-NANOG hESC enhancer GRCh37_chr14:80930624-80931315 Neighboring gene centrosomal protein 128 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37660 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37671 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37742 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:81439163-81439664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:81439665-81440164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5983 Neighboring gene uncharacterized LOC101928462 Neighboring gene GPRASP3 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:81507651-81507772 Neighboring gene ribosomal protein L17 pseudogene 3 Neighboring gene NMNAT1 pseudogene 1 Neighboring gene uncharacterized LOC105370594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8824 Neighboring gene general transcription factor IIA subunit 1 Neighboring gene small nucleolar RNA, H/ACA box 79

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. Biebermann H, et al. J Clin Endocrinol Metab, 2001 Sep. PMID 11549687
    2. Lysine 183 and glutamic acid 157 of the TSH receptor: two interacting residues with a key role in determining specificity toward TSH and human CG. Smits G, et al. Mol Endocrinol, 2002 Apr. PMID 11923469
    3. [Transcription and promoter hypermethylation of thyroid stimulating hormone receptor gene in human papillary thyroid carcinoma]. Dai YL, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2010 Jan. PMID 20117998
    4. Thyroid-stimulating hormone and thyroid-stimulating hormone receptor structure-function relationships. Szkudlinski MW, et al. Physiol Rev, 2002 Apr. PMID 11917095
    5. Signaling-sensitive amino acids surround the allosteric ligand binding site of the thyrotropin receptor. Kleinau G, et al. FASEB J, 2010 Jul. PMID 20179143, Free PMC Article

    See all (391) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).
      Title: Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).
    2. TSHR-IGF-IR complex drives orbital fibroblast misbehavior in thyroid eye disease.
      Title: TSHR-IGF-IR complex drives orbital fibroblast misbehavior in thyroid eye disease.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. Molecular investigation of TSHR gene in Bangladeshi congenital hypothyroid patients.
      Title: Molecular investigation of TSHR gene in Bangladeshi congenital hypothyroid patients.
    8. 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.
    9. Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.
      Title: Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.
    10. [Pathogenic TSHR variants in children with thyroid dysgenesis].
      Title: [Pathogenic TSHR variants in children with thyroid dysgenesis].
    Submit: New GeneRIF Correction See all GeneRIFs (271)

    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
    A genome-wide association study of serum uric acid in African Americans.
    EBI GWAS Catalog
    Common variants in the trichohyalin gene are associated with straight hair in Europeans.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    EBI GWAS Catalog
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    EBI GWAS Catalog
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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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

    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
    		  
    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 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

    1. NG_009206.1 RefSeqGene

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

    mRNA and Protein(s)

    1. 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/Swiss-Prot
      A0A0A0MTJ0, A0PJU7, F5GYU5, G3V2A9, P16473, Q16503, Q8TB90, Q96GT6, Q9P1V4, Q9ULA3, Q9UPH3
      UniProtKB/TrEMBL
      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

    2. 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)

    3. 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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      80955621..81146306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      75167122..75358539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376675.1 → XP_054232650.1  thyrotropin receptor isoform X2

      UniProtKB/TrEMBL
      Q59GA2

    2. XM_054376677.1 → XP_054232652.1  thyrotropin receptor isoform X3

      UniProtKB/TrEMBL
      Q0VAP8

    3. XM_054376678.1 → XP_054232653.1  thyrotropin receptor isoform X4

      UniProtKB/TrEMBL
      Q0VAP8

    4. XM_054376676.1 → XP_054232651.1  thyrotropin receptor isoform X1

      UniProtKB/TrEMBL
      Q59GA2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16473.3 GenPept UniProtKB/Swiss-Prot:P16473

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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