DIO3 - iodothyronine deiodinase 3 Gene

中文名称：碘甲腺原氨酸脱碘酶 3

种属: Homo sapiens

同用名: D3; 5DIII; TXDI3; DIOIII

基因 ID: 1735 | 基因类型: protein coding

关于 DIO3

Cytogenetic location: 14q32.31 Genomic coordinates (GRCh38): 14:101,561,351-101,563,452 (from NCBI)

This gene has 2 transcripts (splice variants), 274 orthologues and 2 paralogues.

功能概要

由这种无内含子基因编码的蛋白质属于碘甲腺原氨酸脱碘酶家族。它通过激素原甲状腺素 (T4) 和生物活性激素 3,3',5-三碘甲腺原氨酸 (T3) 的内环去碘化为无活性代谢物 3,3',5'-三碘甲腺原氨酸 (RT3) 和 3,3'-二碘甲腺原氨酸 (T2) ，分别为。这种酶在怀孕的子宫、胎盘、胎儿和新生儿组织中高度表达，并被认为可以防止发育中的胎儿组织过早暴露于成人水平的甲状腺激素。它调节循环的胎儿甲状腺激素浓度，因此在哺乳动物发育中起着关键作用。缺乏该基因的基因敲除小鼠表现出与发育和繁殖相关的异常，而患有血管瘤的婴儿体内这种酶的活性增加会导致严重的甲状腺功能减退症。这种蛋白质是一种硒蛋白，在其活性位点含有稀有的硒代半胱氨酸 (Sec) 氨基酸。 Sec 由 UGA 密码子编码，通常表示翻译终止。硒蛋白 mRNA 的 3' UTR 包含一个保守的茎环结构，称为 Sec 插入序列 (SECIS) 元素，这是将 UGA 识别为 Sec 密码子而不是终止信号所必需的。[RefSeq 提供，2016 年 5 月]

The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This Enzyme is highly expressed in pregnant uterus, placenta, fetal and neonatal tissues, and thought to prevent premature exposure of developing fetal tissues to adult levels of thyroid Hormones. It regulates circulating fetal thyroid hormone concentrations, and thus plays a critical role in mammalian development. Knockout mice lacking this gene exhibit abnormalities related to development and reproduction, and increased activity of this Enzyme in infants with hemangiomas causes severe hypothyroidism. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, May 2016]

DIO3 基因产物(1)

mRNA	Protein	Name
NM_001362.4	NP_001353.4	thyroxine 5-deiodinase

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables thyroxine 5-deiodinase activity	IDA IDA: 通过直接分析推断	18566113	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in thyroid hormone metabolic process	IGI IGI: 通过遗传相互作用推断	26305885	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

DIO3 蛋白结构

T4_deiodinase

0
100
200
304 a.a.

蛋白主名

其他名称

thyroxine 5-deiodinase

deiodinase, iodothyronine type III

关联疾病

疾病名称

别名

Hypothyroidism

Thyroid Diseases	Thyroid Disease
Thyroid Deficiency	Thyroid Insufficiency
Dysfunction Thyroid	Thyroid Dysfunction

Hemangioma

Hemangiomas

Neonatal Thyrotoxicosis

Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14	Temple Syndrome Due To Paternal 14q32.2 Microdeletion
Paternal Del(14)(Q32.2)	Temple Syndrome Due To Paternal 14q32.2 Hypomethylation
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Upd(14)Mat

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

Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14	Uniparental Disomy, Paternal, Chromosome 14
Kos	Mca Due To 14q32.2 Maternally Expressed Gene Defect
Paternal Uniparental Disomy 14	Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion
Maternal Del(14)(Q32.2)	Maternal Monosomy 14q32.2
Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation	Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upd(14)Pat

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome	PWS
Willi-Prader Syndrome	Prader-Willi Syndrome Due To Translocation
Prader-Willi Syndrome Due To Imprinting Mutation	Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Prader Willi Syndrome	Upd(15)Mat

Thyroid Dyshormonogenesis 4

Deiodinase Deficiency	TDH4
Iodotyrosine Dehalogenase Deficiency	Thyroid Hormonogenesis, Genetic Defect In, 4
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 4	Genetic Defect In Thyroid Hormonogenesis 4
Chdh4	Congenital Hypothyroidism Due To Dyshormonogenesis Type 4
Genetic Defect In Thyroid Hormonogenesis Type 4

Euthyroid Sick Syndrome

Euthyroid Sick Syndromes	Sick-Euthyroid Syndrome
Ess - [Euthyroid Sick Syndrome]	Low-T3 Syndrome
Ntis - [Non-Thyroidal Illness Syndrome]	Tscitus - [Thyroid Allostasis In Critical Illness, Tumours, Uraemia And Starvation]

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

Humeroradial Synostosis

Humero-Radial Fusion	Humero-Radial Synostosis
Ramer Ladda Syndrome

Familial Thyroid Dyshormonogenesis

Thyroid Dyshormonogenesis

Familial Dyshormonogenetic Goiter

Skin Tag

Fibroepithelial Polyp	Fibroepithelial Polyp Of Skin
Soft Fibroma	Skin Tags
Cutaneous Tag	Gardner Fibroma
Acrochordon	Fibroma Molle

Thyroid Gland Disease

Abnormality Of The Thyroid Gland

Thyroid Diseases

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

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-147318	PBENZ-DBRMD	Inducer	99.55%	否
HY-RS03771	DIO3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	DIO3	VGNC	VGNC:106711
Rattus norvegicus	DIO3	RGD	RGD:68420
Mus musculus	DIO3	MGD	MGI:1306782
Canis familiaris	DIO3	VGNC	VGNC:57372

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

DIO3 - iodothyronine deiodinase 3 Gene

关于 DIO3

功能概要

DIO3 基因产物(1)

DIO3 蛋白结构

关联疾病

直系同源

热门区域

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DIO3 - iodothyronine deiodinase 3 Gene

关于 DIO3

功能概要

DIO3 基因产物(1)

DIO3 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

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