2. Gene
  3. THRB - thyroid hormone receptor beta Gene

THRB - thyroid hormone receptor beta Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：甲状腺激素受体β

种属: Homo sapiens

同用名: TRb; GRTH; PRTH; THR1; ERBA2; NR1A2; THRB1; THRB2; TRbeta; THRbeta; TRbeta1; C-ERBA-2; THRbeta1; Thrbeta2; C-ERBA-BETA

基因 ID: 7068 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是三碘甲腺原氨酸的核激素受体。它是甲状腺激素的几种受体之一，已被证明可以调节甲状腺激素的生物活性。小鼠基因敲除研究表明，不同的受体虽然具有一定程度的冗余，但可能介导甲状腺激素的不同功能。已知该基因的突变是全身性甲状腺激素抵抗 (GTHR) 的原因，这是一种以甲状腺肿大和高水平循环甲状腺激素 (T3-T4) 为特征的综合征，同时促甲状腺激素 (TSH) 正常或略微升高。已针对该基因观察到几种编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables enzyme binding IPI
IPI: 通过物理相互作用推断
12039952 GOA
enables nuclear receptor activity IDA
IDA: 通过直接分析推断
15466465 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7870181 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
enables thyroid hormone binding IDA
IDA: 通过直接分析推断
15466465 GOA
enables transcription coactivator binding IPI
IPI: 通过物理相互作用推断
9368056 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to thyroid hormone stimulus IDA
IDA: 通过直接分析推断
9368056 GOA
involved in mRNA transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
26289479 GOA
involved in positive regulation of thyroid hormone receptor signaling pathway IDA
IDA: 通过直接分析推断
26289479 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
26289479 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of RNA polymerase II transcription regulator complex IDA
IDA: 通过直接分析推断
26289479 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

THRB 蛋白结构

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (106 - 175)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (268 - 431)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 461 a.a.
蛋白主名 其他名称

thyroid hormone receptor beta

nuclear receptor subfamily 1 group A member 2

THRB 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
THRB P10828 Ncor1 Mus musculus Q60974
Pull Down
12904255
种属间
THRB P10828 Ncor1 Mus musculus Q60974
Gal4 VP16 Complement
12904255
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14501 THRB Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20346 Thrb Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26855 Thrb Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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