• Gene id: 7253

Gene Summary

• Gene Symbol: TSHR   Gene   UCSC   Ensembl
• Aliases: CHNG1, LGR3, hTSHR-I
• Gene name: thyroid stimulating hormone receptor
• Alternate names: thyrotropin receptor, TSH receptor, seven transmembrane helix receptor, thyrotropin receptor-I, hTSHR-I,
• Gene location: 14q31.1 (80954988: 81146301)     Exons: 12     NC_000014.9
• Gene summary(Entrez): 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 c
• OMIM: 605949

Protein Summary

• Protein general information: P16473  
  • Name: Thyrotropin receptor (Thyroid stimulating hormone receptor) (TSH R)
  • Length: 764  
  • Mass: 86830
  • Tissue specificity: Expressed in thyroide cells (at protein level) (PubMed
• Sequence:

  MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLIETHLRTIPSHAFSNL
  PNISRIYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYST
  DIFFILEITDNPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVY
  SGPSLLDVSQTSVTALPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLM
  CNESSMQSLRQRKSVNALNSPLHQEYEENLGDSIVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQE
  ETLQAFDSHYDYTICGDSEDMVCTPKSDEFNPCEDIMGYKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPR
  FLMCNLAFADFCMGMYLLLIASVDLYTHSEYYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITLERWYAITF
  AMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGISSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCC
  YVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPISFYALSAILNKPLITVSNSKILLVLFYPLNSCANP
  FLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQVQKVTHDMRQGLHNMEDVYELIENSHLTPK
  KQGQISEEYMQTVL

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR002131  IPR026906  IPR032675   IPR002274  
  • Prosite: PS00237 PS50262
  • PDB: 1XUM 2XWT 3G04
  • PDBsum: 1XUM 2XWT 3G04
  • STRING: ENSP00000441235
• Other Databases: GeneCards:  TSHR  Malacards:  TSHR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0008528	G protein-coupled peptide receptor activity	IBA	molecular function
GO:0007190	activation of adenylate cyclase activity	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004996	thyroid-stimulating hormone receptor activity	IBA	molecular function
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	biological process
GO:1904588	cellular response to glycoprotein	IMP	biological process
GO:0038023	signaling receptor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007166	cell surface receptor signaling pathway	IMP	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0038194	thyroid-stimulating hormone signaling pathway	IMP	biological process
GO:0004996	thyroid-stimulating hormone receptor activity	IMP	molecular function
GO:1905229	cellular response to thyrotropin-releasing hormone	IMP	biological process
GO:0016500	protein-hormone receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0004996	thyroid-stimulating hormone receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004996	thyroid-stimulating hormone receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007187	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0008284	positive regulation of cell population proliferation	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04024	cAMP signaling pathway
hsa04918	Thyroid hormone synthesis
hsa04923	Regulation of lipolysis in adipocytes
hsa05320	Autoimmune thyroid disease

Diseases

Associated diseases	References
Congenital nongoitrous hypothyroidism	KEGG:H00250
Congenital hyperthyroidism	KEGG:H01269
Congenital nongoitrous hypothyroidism	KEGG:H00250
Congenital hyperthyroidism	KEGG:H01269
Cardiomyopathy	PMID:8796147
Graves' disease	PMID:7828357
Graves' disease	PMID:24518168
Graves' disease	PMID:9528975
Graves' disease	PMID:19244275
Graves' disease	PMID:21642385
Graves' disease	PMID:11887032
Graves' disease	PMID:21124799
Mitral valve prolapse	PMID:10199795
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray