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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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:91400993-91540509 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 44.51 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    997 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98849
protein coding gene Chr12:91384563-91549808 (.)
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
    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
    less
    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 C57BL/6  
    polypeptide P47750 UniProt | EBI | MGI Sequence Detail 764 Not Applicable  
    For the selected sequence
    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 13
      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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory