DIO3 - iodothyronine deiodinase 3 Gene

Homo sapiens

Also known as D3; 5DIII; TXDI3; DIOIII

Gene ID: 1735 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables thyroxine 5-deiodinase activity	IDA IDA: Inferred from direct assay	18566113	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in thyroid hormone metabolic process	IGI IGI: Inferred from genetic interaction	26305885	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

DIO3 Protein Structure

T4_deiodinase

0
100
200
304 a.a.

Protein Preferred Names

Protein Names

thyroxine 5-deiodinase

deiodinase, iodothyronine type III

Related Diseases

Diseases

Alias

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

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147318	PBENZ-DBRMD	Inducer	99.55%	Unkown
HY-RS03771	DIO3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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