1. Gene
  2. TSHR - thyroid stimulating hormone receptor Gene

TSHR - thyroid stimulating hormone receptor Gene

Homo sapiens

Also known as LGR3; CHNG1; hTSHR-I

Gene ID: 7253 | Gene type: protein coding

About TSHR

Cytogenetic location: 14q31.1 Genomic coordinates (GRCh38): 14:80,955,621-81,146,306 (from NCBI)

This gene has 12 transcripts (splice variants), 260 orthologues, 2 paralogues and is associated with 106 phenotypes. Restricted expression toward thyroid (RPKM 104.1).

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 cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

TSHR Products(7)

mRNA Protein Name
NM_001142626.3 NP_001136098.1 thyrotropin receptor isoform 3 precursor
XM_011537119.3 XP_011535421.1 thyrotropin receptor isoform X1
NM_000369.5 NP_000360.2 thyrotropin receptor isoform 1 precursor
NM_001018036.3 NP_001018046.1 thyrotropin receptor isoform 2
NM_000369.5 NP_000360.2 thyrotropin receptor isoform 1 precursor
NM_001018036.3 NP_001018046.1 thyrotropin receptor isoform 2
NM_001142626.3 NP_001136098.1 thyrotropin receptor isoform 3 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15775968 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
12045258 GOA
enables signaling receptor activity IMP
IMP: Inferred from mutant phenotype
12045258 GOA
enables thyroid-stimulating hormone receptor activity IMP
IMP: Inferred from mutant phenotype
11847099 GOA
Biological Process GO Annotation Evidence Reference Source
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
12045258 GOA
involved in cell surface receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
12045258 GOA
involved in cellular response to glycoprotein IMP
IMP: Inferred from mutant phenotype
12045258 GOA
involved in cellular response to thyrotropin-releasing hormone IMP
IMP: Inferred from mutant phenotype
11847099 GOA
involved in thyroid-stimulating hormone signaling pathway IMP
IMP: Inferred from mutant phenotype
11847099 GOA
Cellular Component GO Annotation Evidence Reference Source
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
11847099 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
11847099 GOA
part of receptor complex IDA
IDA: Inferred from direct assay
23382219 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TSHR Protein Structure

LRR_8

LRR_8: Leucine rich repeat (52 - 111)

LRR_5

LRR_5: Leucine rich repeats (6 copies) (164 - 222)

7tm_1

7tm_1: 7 transmembrane receptor (rhodopsin family) (431 - 678)

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  • 764 a.a.
Protein Preferred Names Protein Names

thyrotropin receptor

TSH receptor

seven transmembrane helix receptor

thyrotropin receptor-I, hTSHR-I

Recombinant TSHR Proteins

Cat. No. Product Name Accession Purity
HY-P74486 TSHR Protein, Human (sf9, His) P16473-1/NP_000360.2 (G21-G413) ≥95%

Related Diseases

Diseases Alias
Thyroid Gland Anaplastic Carcinoma

Anaplastic Thyroid Carcinoma

Anaplastic Thyroid Cancer

Thyroid Cancer, Anaplastic

Thyroid Carcinoma, Anaplastic

Thyroid Carcinoma Anaplastic

Thyroid Gland Disease

Abnormality Of The Thyroid Gland

Thyroid Diseases

Chronic Orbital Inflammation

Chronic Inflammation Of Orbit

Multinodular Goiter
Familial Hyperthyroidism Due To Mutations In Tsh Receptor

Familial Non-Immune Hyperthyroidism

Resistance To Thyroid Stimulating Hormone

Nonautoimmune Hyperthyroidism

Hyperthyroidism, Nonautoimmune

Plummer'S Disease

Toxic Nodular Goiter

Plummer Disease

Goiter Toxic Nodular

Lagophthalmos

Defective Lid Closure

Poor Closure Eyelids

Subacute Thyroiditis

Giant-Cell Thyroiditis

Granulomatous Thyroiditis

Subacute Granulomatous Thyroiditis

De Quervain'S Thyroiditis

Thyroiditis Subacute

Thyroiditis, Subacute

Pseudogranulomatous Thyroiditis

De Quervain Thyroiditis

Nonsuppurative Subacute Thyroiditis

Pseudotuberculous Thyroiditis

Nonsuppurative Thyroiditis Nos

Orbital Plasma Cell Granuloma

Orbital Myositis

Orbital Pseudotumor

Pseudotumor Of Orbit

Plasma Cell Granuloma, Orbital

Thyroid Dyshormonogenesis 2a

TDH2A

Iodide Peroxidase Deficiency

Deficiency Of Iodide Peroxidase

Thyroid Peroxidase Deficiency

Genetic Defect In Thyroid Hormonogenesis 2a

Thyroid Hormonogenesis, Genetic Defect In, 2a

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2a

Chdh2a

Congenital Hypothyroidism Due To Dyshormonogenesis Type 2a

Thyroid Hormone Organification Defect 2

Tiod

Hyperthyroidism, Nonautoimmune

Hyperthyroidism, Congenital Nonautoimmune

Hyperthyroidism, Nonautoimmune, Autosomal Dominant

Toxic Thyroid Hyperplasia, Autosomal Dominant

Nonautoimmune Hyperthyroidism

Congenital Nonautoimmune Hyperthyroidism

Hyperthyroidism, Non-Autoimmune

HTNA

Familial Hyperthyroidism Due To Mutations In Tsh Receptor

Familial Non-Immune Hyperthyroidism

Hyperthyroidism Congenital Non-Autoimmune

Hyperthyroidism Non-Autoimmune Autosomal Dominant

Resistance To Thyroid Stimulating Hormone

Toxic Thyroid Hyperplasia Autosomal Dominant

Hypothyroidism, Congenital, Nongoitrous, 2

Thyroid Dysgenesis

CHNG2

Thyroid Hypoplasia

Thyroid Hemiagenesis

Thyroid Agenesis

Athyreotic Hypothyroidism

Rtsh

Thyrotropin Resistance

Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia

Congenital Nongoitrous Hypothyroidism 2

Thyroid, Ectopic

Hypothyroidism, Congenital, Due To Thyroid Dysgenesis

Hypothyroidism, Athyreotic

Thyrotropin

Resistance To Thyrotropin

Congenital Hypothyroidism Due To Thyroid Dysgenesis Or Hypoplasia

Hypothyroidism, Congenital, Non-Goitrous, 2

Congenital Hypothyroidism Due To Thyroid Dysgenesis

Thyroid-Stimulating Hormone Resistance

Thyroid Ectopic

Ectopic Thyroid

Hypothyroidism, Congenital, Nongoitrous, 3

Thyroid Hormone Resistance Syndrome

Hypothyroidism, Congenital, Nongoitrous, 1

Thyroiditis

Inflammation Of Thyroid

Thyroiditis Nos

Exophthalmos

Proptosis

Thyroid Crisis

Thyrotoxic Crisis

Thyroid Storm

Thyrotoxic Storm

Hyperthyroxinemia
Nontoxic Goiter

Goiter, Non-Toxic

Goitre, Non-Toxic

Nodule-Thyroid, Non Tox

Non-Toxic Goitre

Non-Toxic Simple Goitre

Goitre Nos

Goitre Struma

Enlarged Thyroid Gland

Thyromegaly

Thyroid Hypertrophy

Thyroid Gland Hypertrophy

Thyroid Hyperplasia

Thyroid Gland Hyperplasia

Swelling Of Thyroid Gland

Substernal Thyroid Mass

Substernal Goitre

Substernal Thyroid

Retrosternal Thyroid Struma

Sporadic Nodular Struma

Struma Of Thyroid

Retrosternal Goitre

Plunging Goitre

Nontoxic Nodular Goitre

Nodular Struma

Form Of Goitre

Hyperplastic Goitre

Hypertrophic Thyroid

Intrathoracic Goitre

Nodular Goitre

Suppurative Thyroiditis

Thyroiditis, Suppurative

Acute Suppurative Thyroiditis

Infectious Thyroiditis

Graves' Disease

Graves Disease

Exophthalmic Goiter

Basedow'S Disease

Grave'S Disease

Basedow Disease

Toxic Diffuse Goiter

Graves' Hyperthyroidism

Parry Disease

Autoimmune Hyperthyroidism

Toxic Multinodular Goiter

Follicular Adenoma

Follicular Adenoma Of The Thyroid Gland

Thyroid Follicular Adenoma

Adenoma Follicular

Follicular Thyroid Adenoma

Thyroid Gland Follicular Adenoma

Struma Ovarii
Neonatal Thyrotoxicosis
Autoimmune Disease Of Endocrine System
Mucinoses
Myxedema
Thyroid Gland Cancer

Thyroid Gland Carcinoma

Malignant Neoplasm Of Thyroid Gland

Malignant Tumour Of Thyroid Gland

Thyroid Neoplasm

Thyroid Neoplasms

Neoplasm Of Thyroid Gland

Thyroid Gland Neoplasm

Head And Neck Cancer, Thyroid

Neoplasm Of The Thyroid Gland

Cancer Of The Thyroid

Primary Malignant Neoplasm Of Thyroglossal Duct

Malignant Neoplasm Of Thyroglossal Duct

Primary Malignant Neoplasm Of Thyroid Gland

Thyroglossal Duct Cancer

Toxic Goitre Malignant Tumour

Cancerous Goitre

Hypothyroidism

Thyroid Diseases

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Disease

Thyroid Dysfunction

Hypotropia
Invasive Malignant Thymoma

Infiltrating Thymoma

Thymoma Malignant Invasive

Invasive Thymoma And Thymic Carcinoma

Orbital Disease

Orbital Diseases

Orbit

Endemic Goiter

Iodine-Deficiency-Related Endemic Goitre

Simple Goitre

Goiter, Endemic

Euthyroid Goiter

Hypothyroidism, Congenital, Nongoitrous, 1

Tsh Resistance

CHNG1

Hypothyroidism Due To Tsh Receptor Mutations

Thyrotropin Resistance

Rtsh

Hypothyroidism Due To Unresponsiveness To Thyrotropin

Congenital Nongoitrous Hypothyroidism 1

Thyroid-Stimulating Hormone

Thyroid-Stimulating Hormone, Resistance To

Hypothyroidism, Nonautoimmune

Hypothyroidism, Congenital, Due To Tsh Resistance

Hypothyroidism, Congenital, Non-Goitrous, 1

Congenital Hypothyroidism Due To Tsh Resistance

Non-Autoimmune Hypothyroidism

Thyroid-Stimulating Hormone Resistance

Hypothyroidism, Congenital, Nongoitrous, Type 1

Hypothyroidism, Congenital, Nongoitrous, 3

Thyroid Hormone Resistance Syndrome

Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Thyroid Hormone Resistance Syndrome

Thyroid Hormone Resistance

GRTHD

Gthr

Thyroid Hormone Unresponsiveness

Generalized Thyroid Hormone Resistance

Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Thyroid Hormones

Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones

Refetoff Syndrome

Thyroid Hormone Responsiveness Defect

Familial Euthyroid Hyperthyroxinemia, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones

Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Exposure Keratitis

Exposure Keratoconjunctivitis

Lagophthalmic Keratitis

Graves Ophthalmopathy

Graves Orbitopathy

Thyroid Associated Ophthalmopathy

Thyroid Eye Disease

Thyroid-Associated Ophthalmopathy

Thyroid Cancer, Nonmedullary, 2

Thyroid Carcinoma, Follicular

Follicular Thyroid Carcinoma

NMTC2

Thyroid Cancer, Follicular

Thyroid Carcinoma, Follicular, Somatic

Ftc

Thyroid Cancer, Non-Medullary, 2

Thyroid Follicular Carcinoma

Follicular Thyroid Cancer

Cancer, Thyroid, Nonmedullary, Type 2

Thyroid Gland Adenocarcinoma

Follicular Carcinoma Of Unspecified Site

Moderately Differentiated Follicular Carcinoma Of Thyroid Gland

Pure Follicle Carcinoma Of Thyroid Gland

Pure Follicle Follicular Carcinoma Of Unspecified Site

Pure Follicular Carcinoma Of Thyroid Gland

Trabecular Follicular Carcinoma Of Thyroid Gland

Trabecular Follicular Carcinoma Of Unspecified Site

Well Differentiated Follicular Carcinoma Of Unspecified Site

Well Differentiated Follicular Carcinoma Of Thyroid Gland

Precocious Puberty, Male-Limited

Testotoxicosis

Familial Male-Limited Precocious Puberty

Leydig Cell Adenoma, Somatic, With Precocious Puberty

FMPP

Familial Testotoxicosis

Sexual Precocity, Familial, Gonadotropin-Independent

Familial Gonadotropin-Independent Male-Limited Sexual Precocity

Male-Limited Precocious Puberty

Pubertas Praecox

Gonadotropin-Independent Familial Sexual Precocity

Testotoxicosis, Familial

Precocious Puberty, Male

Precocious Puberty, Male Limited

Familial Gonadotrophin-Independent Sexual Precocity

Gipp

Gonadotrophin-Independent Precocious Puberty

Precocious Pseudopuberty

Familial Male Precocious Puberty

Precocious Puberty In Males

Puberty, Precocious

Precocious Puberty

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Subacute Lymphocytic Thyroiditis
Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Nodular Goiter

Goiter, Nodular

Nodular Goitre

Goiter Nodular

Non-Toxic Nodular Goiter

Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

Adenoma

Acinar Cell Adenoma

Adenomas

Acinic Cell Adenoma

Endocrine Exophthalmos

Endocrine Exopthalmos

Thyroid Associated Opthalmopathies

Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate

Bamforth-Lazarus Syndrome

Bamforth Syndrome

Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate

Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate

Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome

Hypothyroidism-Cleft Palate Syndrome

BLS

Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate

Goiter

Goitre

Excessive Tearing

Epiphora

Lacrimal Apparatus Diseases

Excessive Tear Production

Watering Eye

Thyroid Gland Follicular Carcinoma

Follicular Thyroid Carcinoma

Follicular Adenocarcinoma

Follicular Adenocarcinoma, Well Differentiated

Follicular Carcinoma

Thyroid Adenocarcinoma

Adenocarcinoma, Follicular

Hashimoto Thyroiditis

Autoimmune Thyroiditis

Hashimoto Struma

Hashimoto'S Thyroiditis

Chronic Lymphocytic Thyroiditis

Lymphocytic Thyroiditis

Hashimoto Disease

Ht

Hashimoto'S Disease

Hashimoto'S Syndrome

Hypothyroidism, Autoimmune

Autoimmune Chronic Lymphocytic Thyroiditis

Chronic Lymphocytic Thyroiditides

Hashimoto Syndrome

Hashimotos Thyroiditis

Hashimoto Thyroiditis, Susceptibility To

Thyroiditis, Autoimmune

Lymphomatous Thyroiditis

Lymphoid Thyroiditis

Chronic Lymphadenoid Thyroiditis

Autoimmune Lymphocytic Chronic Thyroiditis

Goitre Lymphomatosa

Hashitoxicosis

Hashimoto Hypothyroidism

Lymphadenoid Goitre

Struma Lymphomatosa

Hyperthyroidism With Hashimoto Disease

Hashimoto Thyrotoxicosis

Thyrotoxicosis Due To Hashimoto Thyroiditis

Struma Lymphomatosis

Lymphadenoid Struma

Iodine Hypothyroidism

Iodine Deficiency Hypothyroidism

Toxic Diffuse Goiter
Graves Disease 1

Thyrotoxicosis

Graves Disease, Susceptibility To, 1

GRD1

Grd

Hyperthyroidism, Autoimmune

Hyperthyroidism

Hyperactive Thyroid Gland

Overactive Thyroid

Toxic Diffuse Goitre

Toxic Primary Thyroid Hyperplasia

Stokes Disease

Thyrotoxicosis With Goitre

Thyrotoxicosis Struma

Graves Disease

Goitre With Hyperthyroidism

Basedow Disease

Exophthalmic Goitre

Exophthalmic Struma

Flajani Disease

Graves Disease With Exophthalmos

Hyperthyroid Goitre

Hyperthyroidism Struma

Thyroid Exophthalmos

Malignant Exophthalmos

Parry Disease

Toxic Diffuse Goitre With Exophthalmos

Toxic Goitre

Toxic Goitre Nos

Thyrotoxicosis Due To Uninodular Goitre

Toxic Thyroid Nodule

Toxic Uninodular Goitre

Uninodular Toxic Struma

Uninodular Toxic Struma With Hyperthyroidism

Thyrotoxicosis Due To Single Thyroid Nodule

Toxic Uninodular Goitre With Hyperthyroidism

Hyperthyroidism With Thyroid Nodule

Thyrotoxicosis With Toxic Uninodular Goitre

Uninodular Goitre In Hyperthyroidism

Uninodular Goitre In Thyrotoxicosis

Toxic Multinodular Goitre

Multinodular Goitre With Thyrotoxicosis

Thyrotoxicosis Nodular Goitre

Nodular Goitre With Thyrotoxicosis

Adenomatous Goitre With Hyperthyroidism

Multinodular Goitre With Hyperthyroidism

Nodular Goitre With Hyperthyroidism

Nodular Struma With Hyperthyroidism

Plummer Disease

Thyrotoxicosis Adenomatous Goitre

Thyrotoxicosis Adenomatous Struma

Toxic Adenomatous Goitre

Toxic Adenomatous Struma

Toxic Nodular Goitre Nos

Toxic Struma Nodosa

Toxic Nodular Struma

Papillary Carcinoma

Carcinoma, Papillary

Carcinoma Papillary

Hyperthyroidism, Familial Gestational

Familial Gestational Hyperthyroidism

HTFG

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Insulin-Dependent Diabetes Mellitus

Type 1 Diabetes

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Hyperthyroidism

Overactive Thyroid

Postsurgical Hypothyroidism

Postoperative Hypothyroidism

Post-Surgical Hypothyroidism

Thyrotoxic Exophthalmos
Athyreosis
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta TSHR VGNC VGNC:78662
Canis familiaris TSHR VGNC VGNC:47902
Bos taurus TSHR VGNC VGNC:36419
Mus musculus TSHR MGD MGI:98849
Felis catus TSHR VGNC VGNC:66617
Rattus norvegicus TSHR RGD RGD:3911
Others TSHR NCBI