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Tshr Gene Detail
Summary
  • Symbol
    Tshr
  • Name
    thyroid stimulating hormone receptor
  • Synonyms
    hypothroid, hyt, pet
  • Feature Type
    protein coding gene
  • IDs
    MGI:98849
    NCBI Gene: 22095
  • Gene Overview
    MyGene.info: TSHR
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr12:91400994-91540509 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      139516 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 44.51 cM
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    TSHR, thyroid stimulating hormone receptor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TSHR, thyroid stimulating hormone receptor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CHNG1, hTSHR-I, LGR3
  • Links
    NCBI Gene ID: 7253
    neXtProt AC: NX_P16473
    UniProt: P16473

  • Chr Location
    14q31.1; chr14:80954989-81146302 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Tshr mouse models; 2 with human TSHR associations

Human Disease Mouse Models
      
IDs
View 4 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    67 phenotypes from 5 alleles in 8 genetic backgrounds
    4 phenotypes from multigenic genotypes
    65 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mutations in this gene exhibit profound hypothyroidism, developmental and growth retardation, impaired hearing with cochlear defects, and infertility. One mutation results in high postweaning mortality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000049745 VEGA Gene Model | MGI Sequence Detail 139516 C57BL/6J ±  kb
    transcript OTTMUST00000126709 VEGA | MGI Sequence Detail 4311 Not Applicable  
    polypeptide OTTMUSP00000068492 VEGA | MGI Sequence Detail 764 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      997 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 33
      Genomic 5
      cDNA 26
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-11041, MGD-MRK-13241, MGD-MRK-15275, MGI:2144847
    References
    more
    • Summaries
      All 122
      Developmental Gene Expression 10
      Diseases 4
      Gene Ontology 12
      Phenotypes 65
    • Earliest
      J:6479 Beamer WJ, et al., Inherited primary hypothyroidism in mice. Science. 1981 Apr 3;212(4490):61-3
    • Latest
      J:257520 Sardella C, et al., Delayed Hair Follicle Morphogenesis and Hair Follicle Dystrophy in a Lipoatrophy Mouse Model of Pparg Total Deletion. J Invest Dermatol. 2018 Mar;138(3):500-510

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory