DIO3 - iodothyronine deiodinase 3 Gene

Also Known as D3; 5DIII; TXDI3; DIOIII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1735

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	References	Source
enables thyroxine 5-deiodinase activity	IDA IDA: Inferred from direct assay	18566113	GOA

Biological Process GO Annotation	Evidence	References	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

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147318	PBENZ-DBRMD	Inducer	99.55%	Unkown
HY-182688	ITYR-DBRMD		/	Unkown
HY-RS03771	DIO3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22137	Dio3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28658	Dio3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	DIO3	NCBI