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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:91367767-91507283 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 44.51 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3650 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98849
 protein coding gene Chr12:91351337-91516582 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019998
 protein coding gene Chr12:92528193-92646942 (+)
A/J MGP_AJ_G0019953
 protein coding gene Chr12:89054908-89171256 (+)
AKR/J MGP_AKRJ_G0019929
 protein coding gene Chr12:91451497-91565422 (+)
BALB/cJ MGP_BALBcJ_G0019939
 protein coding gene Chr12:89342253-89457890 (+)
C3H/HeJ MGP_C3HHeJ_G0019741
 protein coding gene Chr12:92057243-92176491 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020388
 protein coding gene Chr12:95256577-95395930 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018002
 protein coding gene Chr12:86505965-86618938 (+)
CAST/EiJ MGP_CASTEiJ_G0019288
 protein coding gene Chr12:86971808-87088664 (+)
CBA/J MGP_CBAJ_G0019713
 protein coding gene Chr12:98834318-98960272 (+)
DBA/2J MGP_DBA2J_G0019824
 protein coding gene Chr12:88529700-88645932 (+)
FVB/NJ MGP_FVBNJ_G0019813
 protein coding gene Chr12:87398655-87518977 (+)
LP/J MGP_LPJ_G0019900
 protein coding gene Chr12:92325231-92447779 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019854
 protein coding gene Chr12:101605937-101746570 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020417
 protein coding gene Chr12:91067952-91185191 (+)
PWK/PhJ MGP_PWKPhJ_G0019051
 protein coding gene Chr12:83110284-83227303 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018847
 protein coding gene Chr12:85217804-85323403 (+)
WSB/EiJ MGP_WSBEiJ_G0019341
 protein coding gene Chr12:91794737-91929741 (+)



Homology
more
  • Human Ortholog
    TSHR, thyroid stimulating hormone receptor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TSHR, thyroid stimulating hormone receptor
  • Synonyms
    CHNG1, hTSHR-I, LGR3
  • Links
    NCBI Gene ID: 7253
    neXtProt AC: NX_P16473
    UniProt: P16473

  • Chr Location
    14q31.1; chr14:80954989-81146306 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tshr mouse models; 6 with human TSHR associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    68 phenotypes from 5 alleles in 8 genetic backgrounds
    3 phenotypes from multigenic genotypes
    82 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    37
  • GO References
    12
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    753
  • Tissues
    24
  • cDNA Data
    25
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22095 NCBI Gene Model | MGI Sequence Detail 139517 C57BL/6J ±  kb
    transcript NM_011648 RefSeq | MGI Sequence Detail 4332 ZRU/MplStud  
    polypeptide P47750 UniProt | EBI | MGI Sequence Detail 764 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      Genomic 5
      cDNA 27
      Primer pair 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-11041, MGD-MRK-13241, MGD-MRK-15275, MGI:2144847
    References
    more
    • Summaries
      All 146
      Developmental Gene Expression 15
      Diseases 4
      Gene Ontology 12
      Phenotypes 82
    • Earliest
      J:6479 Beamer WJ, et al., Inherited primary hypothyroidism in mice. Science. 1981 Apr 3;212(4490):61-3
    • Latest
      J:357738 Liu Y, et al., Cone photoreceptor differentiation regulated by thyroid hormone transporter MCT8 in the retinal pigment epithelium. Proc Natl Acad Sci U S A. 2024 Jul 23;121(30):e2402560121
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory