THRB - thyroid hormone receptor beta Gene

Homo sapiens

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

Gene ID: 7068 | Gene type: protein coding

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14501	THRB Human Pre-designed siRNA Set A		/	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