THRB - thyroid hormone receptor beta Gene

Also Known as TRb; GRTH; PRTH; THR1; ERBA2; NR1A2; THRB1; THRB2; TRbeta; THRbeta; TRbeta1; C-ERBA-2; THRbeta1; Thrbeta2; C-ERBA-BETA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7068

About THRB

Cytogenetic location: 3p24.2 Genomic coordinates (GRCh38): 3:24,117,153-24,495,708 (from NCBI)

This gene has 19 transcripts (splice variants), 393 orthologues, 18 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 8.1), fat (RPKM 4.3) and 22 other tissues.

Summary

The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]

THRB Products (18)

mRNA	Protein	Name
NM_000461.5	NP_000452.2	thyroid hormone receptor beta isoform a
NM_001128176.3	NP_001121648.1	thyroid hormone receptor beta isoform a
NM_001128177.2	NP_001121649.1	thyroid hormone receptor beta isoform a
NM_001252634.2	NP_001239563.1	thyroid hormone receptor beta isoform a
NM_001354708.2	NP_001341637.1	thyroid hormone receptor beta isoform a
NM_001354709.2	NP_001341638.1	thyroid hormone receptor beta isoform a
NM_001354710.2	NP_001341639.1	thyroid hormone receptor beta isoform a
NM_001354711.2	NP_001341640.1	thyroid hormone receptor beta isoform a
NM_001354712.2	NP_001341641.1	thyroid hormone receptor beta isoform a
NM_001354713.2	NP_001341642.1	thyroid hormone receptor beta isoform a
NM_001354714.2	NP_001341643.1	thyroid hormone receptor beta isoform b
NM_001354715.2	NP_001341644.1	thyroid hormone receptor beta isoform b
NM_001374822.1	NP_001361751.1	thyroid hormone receptor beta isoform a
NM_001374823.1	NP_001361752.1	thyroid hormone receptor beta isoform a
NM_001374824.1	NP_001361753.1	thyroid hormone receptor beta isoform a
NM_001374825.1	NP_001361754.1	thyroid hormone receptor beta isoform a
NM_001374826.1	NP_001361755.1	thyroid hormone receptor beta isoform a
NM_001374827.1	NP_001361756.1	thyroid hormone receptor beta isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	12039952	GOA
enables nuclear receptor activity	IDA IDA: Inferred from direct assay	15466465	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7870181	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables thyroid hormone binding	IDA IDA: Inferred from direct assay	15466465	GOA
enables transcription coactivator binding	IPI IPI: Inferred from physical interaction	9368056	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to thyroid hormone stimulus	IDA IDA: Inferred from direct assay	9368056	GOA
involved in mRNA transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	26289479	GOA
involved in positive regulation of thyroid hormone receptor signaling pathway	IDA IDA: Inferred from direct assay	26289479	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	26289479	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of RNA polymerase II transcription regulator complex	IDA IDA: Inferred from direct assay	26289479	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

THRB Protein Structure

zf-C4

Hormone_recep

0
100
200
300
400
461 a.a.

Protein Preferred Names	Protein Names
thyroid hormone receptor beta	nuclear receptor subfamily 1 group A member 2

THRB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	THRB	P10828	Ncor1	Mus musculus	Q60974	Pull Down	12904255
Cross	THRB	P10828	Ncor1	Mus musculus	Q60974	Gal4 VP16 Complement	12904255

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Thyroid Hormone Resistance, Selective Pituitary	PRTH Selective Pituitary Thyroid Hormone Resistance Selective Pituitary Resistance To Thyroid Hormone Familial Hyperthyroidism Due To Inappropriate Thyrotropin Secretion Hyperthyroidism, Familial, Due To Inappropriate Thyrotropin Secretion Pituitary Resistance To Thyroid Hormone
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Refetoff Syndrome Generalized Resistance To Thyroid Hormone GRTHR Gthr Thyroid Hormone Unresponsiveness Thyroid Hormone Resistance, Autosomal Recessive Grth Thrb Thyroid Hormone Receptor Beta Thyroid Hormone Resistance Syndrome Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Resistance To Thyroid Hormone Due To A Mutation In Thyroid Hormone Receptor Beta	Rthb Resistance To Thyroid Hormone Beta Resistance To Thyroid Hormone Due To A Mutation In Trb
Goiter	Goitre
Hyperthyroidism	Overactive Thyroid
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
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
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
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Allan-Herndon-Dudley Syndrome	AHDS Allan-Herndon Syndrome Monocarboxylate Transporter 8 Deficiency MCT8 DEFICIENCY Mental Retardation, X-Linked, With Hypotonia Triiodothyronine Resistance T3 Resistance Mental Retardation And Muscular Atrophy Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency Intellectual Disability And Muscular Atrophy Monocarboxylate Transporter-8 Deficiency T3 Resisitence Triiodothyronine Resistence X-Linked Intellectual Disability With Hypotonia Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency Monocarboxylate Transporter 8 Deficiency X-Linked Intellectual Disability-Hypotonia Syndrome
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
Hyperthyroxinemia
Tsh Producing Pituitary Tumor	Thyrotroph Adenoma Tsh Producing Pituitary Tumour Tsh Secreting Adenoma Of The Pituitary Tsh Secreting Tumor Of Pituitary Tsh Secreting Tumour Of Pituitary Tsh-Secreting Pituitary Adenoma Pituitary Thyrotrophic Adenoma Tsh-Oma Thyroid Stimulating Hormone-Secreting Pituitary Adenoma Thyroid Stimulating Hormone-Producing Pituitary Tumor
Coffin-Siris Syndrome 4	CSS4 Mrd16 Mental Retardation, Autosomal Dominant 16 Autosomal Dominant Mental Retardation 16 Coffin-Siris Syndrome, Type 4
Neonatal Thyrotoxicosis
Thyroid Gland Disease	Abnormality Of The Thyroid Gland Thyroid Diseases
Enhanced S-Cone Syndrome	Goldmann-Favre Syndrome ESCS Favre Hyaloideoretinal Degeneration Retinoschisis With Early Hemeralopia Retinoschisis With Early Nyctalopia Enhanced S Cone Syndrome S-Cone Syndrome, Enhanced
Thyroid Gland Follicular Carcinoma	Follicular Thyroid Carcinoma Follicular Adenocarcinoma Follicular Adenocarcinoma, Well Differentiated Follicular Carcinoma Thyroid Adenocarcinoma Adenocarcinoma, Follicular
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
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14501	THRB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20346	Thrb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26855	Thrb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	THRB	RGD	RGD:3858
Canis familiaris	THRB	VGNC	VGNC:47355
Bos taurus	THRB	VGNC	VGNC:35847
Felis catus	THRB	VGNC	VGNC:66174
Mus musculus	THRB	MGD	MGI:98743
Macaca mulatta	THRB	VGNC	VGNC:78350
Others	THRB	NCBI