Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7253
Gene name	Thyroid stimulating hormone receptor
Gene symbol	TSHR
Synonyms (NCBI Gene)	CHNG1LGR3hTSHR-I
Chromosome	14
Chromosome location	14q31.1
Summary	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

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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
MIRT1458700	hsa-miR-214	CLIP-seq
MIRT1458701	hsa-miR-224	CLIP-seq
MIRT1458702	hsa-miR-28-3p	CLIP-seq
MIRT1458703	hsa-miR-3619-5p	CLIP-seq
MIRT1458704	hsa-miR-4282	CLIP-seq
MIRT1458705	hsa-miR-4291	CLIP-seq
MIRT1458706	hsa-miR-432	CLIP-seq
MIRT1458707	hsa-miR-433	CLIP-seq
MIRT1458708	hsa-miR-4424	CLIP-seq
MIRT1458709	hsa-miR-4531	CLIP-seq
MIRT1458710	hsa-miR-4690-5p	CLIP-seq
MIRT1458711	hsa-miR-4711-3p	CLIP-seq
MIRT1458712	hsa-miR-4759	CLIP-seq
MIRT1458713	hsa-miR-620	CLIP-seq
MIRT1458714	hsa-miR-645	CLIP-seq
MIRT1458715	hsa-miR-761	CLIP-seq
MIRT1458716	hsa-miR-922	CLIP-seq
MIRT1458700	hsa-miR-214	CLIP-seq
MIRT1458703	hsa-miR-3619-5p	CLIP-seq
MIRT1458715	hsa-miR-761	CLIP-seq
MIRT1458700	hsa-miR-214	CLIP-seq
MIRT1458703	hsa-miR-3619-5p	CLIP-seq
MIRT2358483	hsa-miR-4280	CLIP-seq
MIRT1458705	hsa-miR-4291	CLIP-seq
MIRT1458712	hsa-miR-4759	CLIP-seq
MIRT1458715	hsa-miR-761	CLIP-seq
MIRT1458716	hsa-miR-922	CLIP-seq
MIRT2396408	hsa-miR-3545-3p	CLIP-seq
MIRT2462473	hsa-miR-203	CLIP-seq
MIRT2462474	hsa-miR-3145-3p	CLIP-seq
MIRT2462475	hsa-miR-3689a-5p	CLIP-seq
MIRT2462476	hsa-miR-3689b	CLIP-seq
MIRT2462477	hsa-miR-3689e	CLIP-seq
MIRT2462478	hsa-miR-3689f	CLIP-seq
MIRT2462479	hsa-miR-576-3p	CLIP-seq
MIRT1458701	hsa-miR-224	CLIP-seq
MIRT1458707	hsa-miR-433	CLIP-seq

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Transcription factor	Regulation	Reference
PAX8	Repression	17614769
PPARG	Repression	17614769

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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
GO:0005515	Function	Protein binding	IPI	15775968, 28298427, 35512704
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11847099
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8552586
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IMP	12045258
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	8552586
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	8552586
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	12045258
GO:0007267	Process	Cell-cell signaling	TAS	7920658
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	7920658
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA
GO:0009725	Process	Response to hormone	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IBA
GO:0009986	Component	Cell surface	ISS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	11847099
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016500	Function	Protein-hormone receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	IMP	12045258
GO:0038194	Process	Thyroid-stimulating hormone signaling pathway	IMP	11847099
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0044877	Function	Protein-containing complex binding	IDA	12045258
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	18559984
GO:1904588	Process	Cellular response to glycoprotein	IMP	12045258
GO:1905229	Process	Cellular response to thyrotropin-releasing hormone	IMP	11847099

MIM	HGNC	e!Ensembl
603372	12373	ENSG00000165409

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

	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

432

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital hypothyroidism	Likely pathogenic; Pathogenic	rs121908866, rs189261858	RCV006439562 RCV000826152
Familial gestational hyperthyroidism	Likely pathogenic; Pathogenic	rs761918916, rs121908863, rs121908865, rs121908866, rs121908871, rs121908872, rs121908879, rs189261858, rs774078708, rs1330247874, rs1320718774, rs760874290, rs1064794318, rs1085307573, rs780018604	RCV002476874 RCV002490329 RCV005007829 RCV005007830 RCV002490330 RCV005007831 RCV000006824 RCV003225722 RCV003153136 RCV005013256 RCV005013268 RCV004567857 RCV005010391 RCV002481552 RCV005012572
Familial hyperthyroidism due to mutations in TSH receptor	Likely pathogenic; Pathogenic	rs761918916, rs121908861, rs121908863, rs121908864, rs121908865, rs121908866, rs121908871, rs121908872, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883 View all (8 more)	RCV002476874 RCV000006802 RCV002490329 RCV000006806 RCV005007829 RCV005007830 RCV002490330 RCV005007831 RCV000006818 RCV000006819 RCV000006820 RCV000006821 RCV000006823 RCV000006825 RCV000006828 RCV005008151 RCV003314474 RCV003444185 RCV005013256 RCV005013268 RCV005010273 RCV005010391 RCV002481552 RCV005012572
Hypothyroidism due to TSH receptor mutations	Likely pathogenic; Pathogenic	rs2140111252, rs761918916, rs2140112570, rs786204790, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884 View all (17 more)	RCV005408864 RCV002274197 RCV002251066 RCV000169681 RCV000006804 RCV000006805 RCV000006808 RCV000006809 RCV000006810 RCV000006813 RCV000006814 RCV000006815 RCV000006817 RCV000006826 RCV000006829 RCV000006830 RCV000006832 RCV000490528 RCV003314197 RCV003447746 RCV003479551 RCV004801371 RCV004783080 RCV005013256 RCV005013268 RCV005010273 RCV004527094 RCV005010391 RCV002481552 RCV001118351 RCV001175132 RCV001175135
Ovarian cancer	Likely pathogenic; Pathogenic	rs189261858, rs1888829999, rs1891818053, rs2503498523, rs772600260, rs760874290	RCV003153491 RCV003154761 RCV003154762 RCV003154763 RCV003154791 RCV003153557
Sarcoma	Likely pathogenic	rs767239688	RCV005908905
Smith-Lemli-Opitz syndrome	Pathogenic	rs1291324306	RCV004544218
Thyroid adenoma, hyperfunctioning, somatic	Pathogenic	rs121908859, rs121908860, rs121908861, rs121908873, rs121908877	RCV000006800 RCV000006801 RCV000006803 RCV000006816 RCV000006822
THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC	Pathogenic	rs28937584	RCV000006807
TSHR-related disorder	Likely pathogenic; Pathogenic	rs121908866, rs121908872, rs2503608613, rs1206511483, rs760874290, rs1064794318	RCV004528087 RCV004532302 RCV004528621 RCV004542292 RCV003335304 RCV004541520

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	rs113951800, rs140533848	RCV005891244 RCV005913770
autistic features	Conflicting classifications of pathogenicity	rs121908869	RCV000415318
Bladder exstrophy-epispadias-cloacal extrophy complex	Uncertain significance	rs1279135603	RCV003389424
Cervical cancer	Benign; Likely benign	rs113951800, rs2288495	RCV005891246 RCV005893298
Clear cell carcinoma of kidney	Benign; Likely benign	rs113951800	RCV005891247
Developmental delay	Conflicting classifications of pathogenicity	rs121908869	RCV000415318
Epilepsy	Conflicting classifications of pathogenicity	rs121908869	RCV000415318
Gastric cancer	Benign; Likely benign	rs113951800	RCV005891248
Graves disease, susceptibility to, 1	Benign; Likely benign	rs61747482	RCV004991966
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs1237819854	RCV001374528
Hyperthyroidism	Conflicting classifications of pathogenicity	rs765569628	RCV006437194
Lung cancer	Likely benign	rs182437826	RCV005929322
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs28516678	RCV005922766
Malignant tumor of breast	Conflicting classifications of pathogenicity	rs142063461	RCV001005031
Melanoma	Benign; Likely benign	rs113951800	RCV005891252
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs113951800	RCV005891245
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs113951800	RCV005891249
Thymoma	Benign; Likely benign	rs28516678, rs113951800	RCV005922768 RCV005891250
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs113951800	RCV005891251
Uterine carcinosarcoma	Benign; Likely benign	rs28516678, rs2288495	RCV005922767 RCV005893299
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs182437826, rs2288495	RCV005929323 RCV005893300
Uveal melanoma	Benign; Likely benign	rs28516678	RCV005922765

Show/Hide Text Mining Associations (83)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Cardiomyopathy Dilated	Associate	9409648
Cardiomyopathy infantile histiocytoid	Associate	37716507
Colorectal Neoplasms	Associate	28675510
Congenital Hypothyroidism	Associate	18379122, 25146893, 25557138, 26709262, 27255745, 27525530, 34200080, 34234053, 36468928, 36913313, 37346832, 37561783, 40362701, 40391015, 9185526
COVID 19	Associate	34276672, 37246981
Endometriosis	Associate	36152376
Epidermolysis bullosa pretibial	Associate	7508946
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Epileptic Syndromes	Associate	27373559
Epstein Barr Virus Infections	Associate	28333576
Exophthalmos	Associate	38107520
Genetic Diseases Inborn	Associate	30022773
Genomic Instability	Associate	36619548
Glomerulonephritis Membranous	Associate	34115025
Goiter	Associate	27525921
Goiter Multinodular 2	Associate	16284436, 2577491, 27525921
Graves Disease	Associate	16617190, 18190611, 18655531, 18832736, 18925838, 1914236, 19897675, 21124799, 22517745, 22673349, 23118423, 2358066, 23852019, 24086448, 24446657 View all (27 more)
Graves Disease	Stimulate	38107520
Graves Ophthalmopathy	Associate	14764816, 15115450, 17122103, 19897675, 20017620, 22399514, 22673349, 23482611, 24517461, 25061884, 25411513, 25485727, 26213859, 31622470, 34412613, 34949642, 36554821, 38107520, 7508946 View all (4 more)
Graves Ophthalmopathy	Stimulate	22517745
Hashimoto Disease	Associate	22673349, 24328419, 29973096, 30624501
Hashimoto's encephalitis	Associate	31585887
Hyperthyroidism	Associate	11036883, 16960398, 18025759, 18655531, 18832736, 19191749, 20929407, 21274318, 2358066, 24086448, 25061884, 2577491, 27525921, 30372544, 33443352 View all (6 more)
Hyperthyroidism	Stimulate	30624501, 35550326
Hyperthyroidism Nonautoimmune	Associate	16960398, 18025759, 20929407, 21274318, 28195550, 9294132
Hypokalemia	Associate	38241561
Hypothyroidism	Associate	21490078, 23332130, 25079464, 29973617, 31541602, 32995956, 36130976, 37686882, 38241561, 40391015
Hypothyroidism Autoimmune	Associate	22947348, 23332130, 8552586
Hypothyroidism Congenital Nongoitrous 1	Associate	15870119, 25557138
Hypothyroidism Congenital Nongoitrous 2	Associate	32765423, 9185526
Infections	Associate	25759125
Inflammation	Associate	25411513, 26287404
Intellectual Disability	Associate	36468928
Kidney Diseases	Associate	34115025
Leprosy Paucibacillary	Associate	36619548
Lung Neoplasms	Stimulate	37885353
Lung Neoplasms	Associate	37885353
Lymphatic Metastasis	Associate	31658048, 39363900
Melanoma	Associate	36553569
Mitral Valve Prolapse	Associate	12558129
Neoplasm Metastasis	Inhibit	27649658
Neoplasm Metastasis	Associate	32195970, 37716507
Neoplasms	Associate	16091757, 19893615, 22001338, 24844218, 25209362, 26518340, 27084275, 27500488, 27626165, 32195970, 32995956, 36619548, 37042127, 37885353, 9303357
Obesity	Associate	25079464
Ocular Motility Disorders	Associate	38107520
Osteoarthropathy Primary Hypertrophic	Associate	7508946
Ovarian Diseases	Associate	24844218
Ovarian Neoplasms	Inhibit	24844218
Ovarian Neoplasms	Associate	36722270
Peritoneal Neoplasms	Associate	15115450
Persistent Infection	Associate	36913313
Psychomotor Disorders	Associate	27255745
Respiratory Insufficiency	Associate	18655531
Struma Ovarii	Associate	26530865
Tachycardia Sinus	Stimulate	35550326
Thymus Hyperplasia	Associate	26996584
Thyroid Adenoma Hyperfunctioning	Associate	12558129, 18655531, 19191749, 21274318, 22001338, 28195550
Thyroid cancer follicular	Associate	31703413
Thyroid cancer Hurthle cell	Associate	37716507
Thyroid Cancer Papillary	Associate	19550078, 24086368, 25303483, 26323637, 27649658, 31658048, 31758407, 36142613, 37560303, 9303357
Thyroid Carcinoma Anaplastic	Associate	27796151, 34751390
Thyroid Crisis	Associate	22001338
Thyroid Diseases	Associate	23426615, 25557138, 30485936, 36130976
Thyroid Dysgenesis	Associate	30022773, 30240412, 30304112, 37561783, 39337518, 40391015
Thyroid Dyshormonogenesis 1	Associate	27525530, 30022773, 31541602, 32765423, 34539567, 39337518
Thyroid Hormone Metabolism Abnormal	Associate	29973617
Thyroid Neoplasms	Associate	15080771, 16091757, 16381821, 18682709, 22001338, 23979959, 24844218, 26427660, 27500488, 27649658, 30058701, 36293065, 37208644, 37716507, 9294132
Thyroid Nodule	Associate	11119705, 16284436, 16960398, 19550078, 22001338, 26519197, 26818556, 33443352, 36619548, 37560303
Thyroiditis	Associate	25146893, 28644858, 36207832, 39337518
Thyroiditis Autoimmune	Associate	17952073, 22673349, 2358066, 23852019, 24328419, 25122677, 29973096
Thyroiditis Autoimmune	Stimulate	34115025
Tremor	Associate	28195550
Triple Negative Breast Neoplasms	Associate	34944094

TSHR (thyroid stimulating hormone receptor)