TSHR (thyroid stimulating hormone receptor)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7253
Gene name Gene Name - the full gene name approved by the HGNC.
Thyroid stimulating hormone receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TSHR
Synonyms (NCBI Gene) Gene synonyms aliases
CHNG1, LGR3, hTSHR-I
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
miRTarBase ID miRNA Experiments Reference
MIRT017856 hsa-miR-335-5p Microarray 18185580
MIRT023731 hsa-miR-1-3p Microarray 18668037
MIRT025045 hsa-miR-181a-5p Microarray 17612493
MIRT1458698 hsa-miR-1270 CLIP-seq
MIRT1458699 hsa-miR-1286 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
PAX8 Repression 17614769
PPARG Repression 17614769
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004996 Function Thyroid-stimulating hormone receptor activity IBA
GO:0004996 Function Thyroid-stimulating hormone receptor activity IEA
GO:0004996 Function Thyroid-stimulating hormone receptor activity IMP 11847099
GO:0004996 Function Thyroid-stimulating hormone receptor activity TAS 8552586
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603372 12373 ENSG00000165409
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P16473
Protein name Thyrotropin receptor (Thyroid-stimulating hormone receptor) (TSH-R)
Protein function Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). The activity of this recep
PDB 2XWT , 3G04 , 7T9I , 7T9M , 7T9N , 7UTZ , 7XW5 , 7XW6 , 7XW7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13306 LRR_5 53 → 143 BspA type Leucine rich repeat region (6 copies) Repeat
PF00001 7tm_1 431 → 678 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in thyroide cells (at protein level) (PubMed:11847099). Expressed in the thyroid (PubMed:2610690). {ECO:0000269|PubMed:11847099, ECO:0000269|PubMed:2610690}.
Sequence 
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLI
ETHLRTIPSHAFSNLPNISRIYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPD
ALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITDNPYMTSIPVNAFQGLCNETL
TLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTA
LPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLM
CNESSMQSLRQRKSVNALNSPLHQEYEENLGDSIVGYKEKSKFQDTHNNAHYYVFFEEQE
DEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTPKSDEFNPCEDIMGYKFLRIV
VWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSE
YYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACA
IMVGGWVCCFLLALLPLVGISSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCC
YVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPISFYALSAILNKPLITVSNSK
ILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQ
VQKVTHDMRQGLHNMEDVYELIENSHLTPKKQGQISEEYMQTVL
Sequence length 764
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Thyroid hormone synthesis
Regulation of lipolysis in adipocytes
Autoimmune thyroid disease 		  Hormone ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Hypothyroidism congenital hypothyroidism rs189261858 N/A
Hyperthyroidism familial hyperthyroidism due to mutations in tsh receptor rs121908864, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908861, rs121908883, rs121908874 N/A
Hyperthyroidism Gestational familial gestational hyperthyroidism rs189261858, rs121908879, rs760874290, rs121908872, rs121908863 N/A
Hypothyroidism hypothyroidism due to tsh receptor mutations rs786204790, rs189261858, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908881, rs121908872, rs121908862, rs121908884, rs121908863, rs2140110277, rs121908885, rs786205080 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Malignant tumor of breast N/A N/A ClinVar
Schizophrenia Schizophrenia N/A N/A GWAS
Tourette Syndrome Tourette syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (83)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Follicular Associate 34171097
Adenocarcinoma of Lung Associate 35140701
Adenoma Associate 19191749, 21274318, 31077238, 9294132
Adenomatous Polyposis Coli Associate 9294132
Allanson Pantzar McLeod syndrome Associate 37561783
Asymptomatic Infections Associate 21745101, 23332130, 25557138
Autoimmune Diseases Associate 22517745
Carcinogenesis Associate 26323637
Carcinoma Papillary Associate 9303357
Carcinoma Small Cell Associate 23844610