2. Gene
  3. DIO2 - iodothyronine deiodinase 2 Gene

DIO2 - iodothyronine deiodinase 2 Gene

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

中文名称：碘甲腺原氨酸脱碘酶 2

种属: Homo sapiens

同用名: D2; 5DII; SelY; DIOII; TXDI2; SELENOY

基因 ID: 1734 | 基因类型: protein coding

关于 DIO2

Cytogenetic location: 14q31.1 Genomic coordinates (GRCh38): 14:80,197,526-80,231,057 (from NCBI)

This gene has 10 transcripts (splice variants), 218 orthologues and 2 paralogues. Biased expression in thyroid (RPKM 69.7), endometrium (RPKM 13.6) and 2 other tissues.

功能概要

该基因编码的蛋白质属于碘甲腺原氨酸脱碘酶家族。它通过外环 5'-脱碘作用催化激素原甲状腺素 (3,5,3',5'-四碘甲状腺原氨酸，T4) 转化为具有生物活性的甲状腺激素 (3,5,3'-三碘甲状腺原氨酸，T3) 。该基因广泛表达，包括在甲状腺和大脑中。它被认为负责 T3 的“局部”产生，因此对影响这些组织中的甲状腺激素作用很重要。据报道，它在 Graves 病患者的甲状腺和滤泡性腺瘤中也有高度表达。通过这种酶将甲状腺内 T4 转化为 T3 可能显着促进这些患者甲状腺 T3 产生的相对增加。该蛋白质是一种含非标准氨基酸硒代半胱氨酸 (Sec) 的硒蛋白，它由通常发出翻译终止信号的 UGA 密码子编码。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) 元件，这是将 UGA 识别为 Sec 密码子而不是终止信号所必需的。与该酶家族的其他两个成员 (DIO1 和 DIO3) 不同，该基因的 mRNA 包含一个额外的框内 UGA 密码子，据报道 (在人类中) 该密码子可作为 Sec 或终止密码子发挥作用，这可能导致在具有一个或两个 Sec 残基的两种同种型中；然而，只有上游 Sec (与在 DIO1 和 DIO3 的活性位点发现的单个 Sec 残基保持一致) 被证明对酶活性至关重要 (PMID:10403186) 。已经描述了该基因的可变剪接转录物变体。[RefSeq 提供，2018 年 10 月]

The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is widely expressed, including in thyroid and brain. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. It has also been reported to be highly expressed in thyroids of patients with Graves disease, and in follicular adenomas. The intrathyroidal T4 to T3 conversion by this Enzyme may contribute significantly to the relative increase in thyroidal T3 production in these patients. This protein is a selenoprotein containing the non-standard amino acid, selenocysteine (Sec), which is encoded by the UGA codon that 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. Unlike the Other two members (DIO1 and DIO3) of this Enzyme family, the mRNA for this gene contains an additional in-frame UGA codon that has been reported (in human) to function either as a Sec or a stop codon, which can result in two isoforms with one or two Sec residues; however, only the upstream Sec (conserved with the single Sec residue found at the active site in DIO1 and DIO3) was shown to be essential for Enzyme activity (PMID:10403186). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2018]

DIO2 基因产物(4)

mRNA Protein Name
NM_000793.6 NP_000784.3 type II iodothyronine deiodinase isoform b
NM_001324462.2 NP_001311391.2 type II iodothyronine deiodinase isoform b
NM_001366496.1 NP_001353425.1 type II iodothyronine deiodinase isoform b
NM_013989.5 NP_054644.1 type II iodothyronine deiodinase isoform a
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
19651899 GOA
enables thyroxine 5-deiodinase activity IDA
IDA: 通过直接分析推断
18566113 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
19651899 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in thyroid hormone metabolic process IDA
IDA: 通过直接分析推断
19651899 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

DIO2 蛋白结构

T4_deiodinase

T4_deiodinase: Iodothyronine deiodinase (4 - 261)

T4_deiodinase

T4_deiodinase: Iodothyronine deiodinase (4 - 261)

  • 0
  • 100
  • 200
  • 273 a.a.
蛋白主名 其他名称

type II iodothyronine deiodinase

deiodinase, iodothyronine type II

关联疾病

疾病名称 别名
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
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]
Kashin-Beck Disease

Kaschin-Beck Disease

Kaschin-Beck Disease, Unspecified Site

Kashin-Bek Disease

Urov Disease
Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction
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
Deafness, Autosomal Recessive 62

DFNB62

Autosomal Recessive Nonsyndromic Deafness 62

Autosomal Recessive Deafness 62
Follicular Adenoma

Follicular Adenoma Of The Thyroid Gland

Thyroid Follicular Adenoma

Adenoma Follicular

Follicular Thyroid Adenoma

Thyroid Gland Follicular Adenoma
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 Gland Disease

Abnormality Of The Thyroid Gland

Thyroid Diseases
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
Staphyloenterotoxemia

Staphylococcal Food Poisoning

Staphylococcal Toxaemia Due To Food

Staphyloenterotoxicosis
Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes
Familial Thyroid Dyshormonogenesis

Thyroid Dyshormonogenesis

Familial Dyshormonogenetic Goiter
Loeys-Dietz Syndrome 1

Furlong Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

LDS1

Aat5

Loeys-Dietz Syndrome Type 1

Aortic Aneurysm, Familial Thoracic 5

Familial Throacic Aortic Aneurysm 5

Loeys-Dietz Syndrome

Aortic Aneurysm Syndrome, Loeys-Dietz Type

Familial Thoracic Aortic Aneurysm 5

Ldas

Marfanoid Disorder-Craniosynostosis Syndrome

Aneurysm, Aortic, Thoracic, Familial, Type 5

Loeys-Dietz Syndrome, Type 1

Loeys-Dietz Syndrome, Type 2a
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
Diabetes Mellitus

Diabetes
Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03770 DIO2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus DIO2 VGNC VGNC:80987
Mus musculus DIO2 MGD MGI:1338833
Canis familiaris DIO2 VGNC VGNC:56059
Rattus norvegicus DIO2 RGD RGD:68418
Bos taurus DIO2 VGNC VGNC:106710
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