DIO2 - iodothyronine deiodinase 2 Gene

Homo sapiens

Also known as D2; 5DII; SelY; DIOII; TXDI2; SELENOY

Gene ID: 1734 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables thyroxine 5'-deiodinase activity	IDA IDA: Inferred from direct assay	19651899	GOA
enables thyroxine 5-deiodinase activity	IDA IDA: Inferred from direct assay	18566113	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	19651899	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in thyroid hormone metabolic process	IDA IDA: Inferred from direct assay	19651899	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

DIO2 Protein Structure

T4_deiodinase

0
100
200
273 a.a.

Protein Preferred Names

Protein Names

type II iodothyronine deiodinase

deiodinase, iodothyronine type II

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03770	DIO2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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