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    Tshr thyroid stimulating hormone receptor [ Mus musculus (house mouse) ]

    Gene ID: 22095, updated on 21-Apr-2024

    Summary

    Official Symbol
    Tshrprovided by MGI
    Official Full Name
    thyroid stimulating hormone receptorprovided by MGI
    Primary source
    MGI:MGI:98849
    See related
    Ensembl:ENSMUSG00000020963 AllianceGenome:MGI:98849
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    hyt; pet; hypothroid
    Summary
    Enables thyroid-stimulating hormone receptor activity. Involved in positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including adult locomotory behavior; dopaminergic neuron differentiation; and inner ear development. Located in plasma membrane. Is expressed in bladder; renal vasculature; thyroid gland; and thyroid gland lobe. Used to study congenital hypothyroidism. Human ortholog(s) of this gene implicated in Graves' disease; cardiomyopathy; congenital nongoitrous hypothyroidism 1; and mitral valve prolapse. Orthologous to human TSHR (thyroid stimulating hormone receptor). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in subcutaneous fat pad adult (RPKM 19.7), genital fat pad adult (RPKM 11.8) and 3 other tissues See more
    Orthologs
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    Genomic context

    Location:
    12 D3; 12 44.51 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (91367767..91507283)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (91400993..91540509)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene centrosomal protein 128 Neighboring gene phosphatidate cytidylyltransferase, mitochondrial pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr12:92497477-92497778 Neighboring gene STARR-seq mESC enhancer starr_32928 Neighboring gene STARR-seq mESC enhancer starr_32929 Neighboring gene predicted gene, 18388 Neighboring gene STARR-positive B cell enhancer ABC_E8495 Neighboring gene phosphoglycerate mutase family member 5 pseudogene Neighboring gene STARR-seq mESC enhancer starr_32930 Neighboring gene predicted gene, 40541 Neighboring gene STARR-seq mESC enhancer starr_32931 Neighboring gene STARR-seq mESC enhancer starr_32932 Neighboring gene STARR-seq mESC enhancer starr_32934 Neighboring gene general transcription factor II A, 1 Neighboring gene predicted gene, 25776 Neighboring gene stonin 2 Neighboring gene ragulator complex protein LAMTOR2 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (3) 
    • Targeted (3)  1 citation
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (3) 

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables G protein-coupled peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables G protein-coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-hormone receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables signaling receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables thyroid-stimulating hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables thyroid-stimulating hormone receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables thyroid-stimulating hormone receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within B cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within adult locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell surface receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to glycoprotein ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to thyrotropin-releasing hormone ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cochlea morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within dopaminergic neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hormone-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within inner ear receptor cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inner ear receptor cell stereocilium organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cold-induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of locomotion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid-stimulating hormone signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 

    General protein information

    Preferred Names
    thyrotropin receptor
    Names
    TSH-R

    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.

    mRNA and Protein(s)

    1. NM_001113404.1NP_001106875.1  thyrotropin receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_001106875.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2) that has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK041086, BB645263
      Consensus CDS
      CCDS49135.1
      UniProtKB/TrEMBL
      Q78U67
      Related
      ENSMUSP00000021343.7, ENSMUST00000021343.8
      Conserved Domains (2) summary
      sd00033
      Location:5577
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13306
      Location:65221
      LRR_5; Leucine rich repeats (6 copies)
    2. NM_011648.5NP_035778.3  thyrotropin receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_035778.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BB645263, BC086691
      Consensus CDS
      CCDS26088.1
      UniProtKB/Swiss-Prot
      P47750, Q562E4, Q9D697
      Related
      ENSMUSP00000021346.8, ENSMUST00000021346.14
      Conserved Domains (4) summary
      pfam00001
      Location:437678
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam13855
      Location:76138
      LRR_8; Leucine rich repeat
      cl21587
      Location:417527
      7tm_2; 7 transmembrane receptor (Secretin family)
      sd00033
      Location:5477
      LRR_RI; leucine-rich repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      91367767..91507283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)