DUOXA2 - dual oxidase maturation factor 2 Gene

Homo sapiens

Also known as TDH5; SIMNIPHOM

Gene ID: 405753 | Gene type: protein coding

About DUOXA2

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,114,326-45,118,421 (from NCBI)

This gene has 3 transcripts (splice variants), 236 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in gall bladder (RPKM 85.0), urinary bladder (RPKM 21.8) and 5 other tissues.

Summary

This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]

DUOXA2 Products(1)

mRNA	Protein	Name
NM_207581.4	NP_997464.2	dual oxidase maturation factor 2

DUOXA2 Protein Structure

DuoxA

0
100
200
300
320 a.a.

Protein Preferred Names

Protein Names

dual oxidase maturation factor 2

Related Diseases

Diseases

Alias

Thyroid Dyshormonogenesis 5

TDH5	Hypothyroidism, Congenital, Due To Dyshormonogenesis, 5
Thyroid Hormonogenesis, Genetic Defect In, 5	Genetic Defect In Thyroid Hormonogenesis 5
Chdh5	Congenital Hypothyroidism Due To Dyshormonogenesis Type 5
Genetic Defect In Thyroid Hormonogenesis Type 5

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

Familial Thyroid Dyshormonogenesis

Thyroid Dyshormonogenesis

Familial Dyshormonogenetic Goiter

Goiter

Goitre

Dyshormonogenic Goiter

Dyshormonogenic Goitre

Hypothyroidism

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

Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate

Bamforth-Lazarus Syndrome	Bamforth Syndrome
Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate	Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate
Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome	Hypothyroidism-Cleft Palate Syndrome
BLS	Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate

Hypothyroidism, Congenital, Nongoitrous, 1

Tsh Resistance	CHNG1
Hypothyroidism Due To Tsh Receptor Mutations	Thyrotropin Resistance
Thyroid-Stimulating Hormone	Rtsh
Hypothyroidism Due To Unresponsiveness To Thyrotropin	Congenital Nongoitrous Hypothyroidism 1
Thyroid-Stimulating Hormone, Resistance To	Hypothyroidism, Nonautoimmune
Hypothyroidism, Congenital, Due To Tsh Resistance	Hypothyroidism, Congenital, Non-Goitrous, 1
Congenital Hypothyroidism Due To Tsh Resistance	Non-Autoimmune Hypothyroidism
Thyroid-Stimulating Hormone Resistance	Hypothyroidism, Congenital, Nongoitrous, Type 1
Hypothyroidism, Congenital, Nongoitrous, 3	Thyroid Hormone Resistance Syndrome

Ileocolitis

Iieocolitis

Thyroid Gland Disease

Abnormality Of The Thyroid Gland

Thyroid Diseases

Pendred Syndrome

Goiter-Deafness Syndrome	Deafness With Goiter
PDS	Thyroid Dyshormonogenesis 2b
Tdh2b	Autosomal Recessive Sensorineural Hearing Impairment And Goiter
Pendred'S Syndrome	Thyroid Hormonogenesis, Genetic Defect In, 2b
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b	Congenital Hypothyroidism Due To Dyshormonogenesis 2b
Genetic Defect In Thyroid Hormonogenesis 2b	Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
Goiter-Hearing Loss Syndrome	Goitre-Deafness Syndrome
Goitre Deafness

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-RS04047	DUOXA2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DUOXA2	VGNC	VGNC:40123
Mus musculus	DUOXA2	MGD	MGI:1914061
Felis catus	DUOXA2	VGNC	VGNC:61655
Rattus norvegicus	DUOXA2	RGD	RGD:1560628
Bos taurus	DUOXA2	VGNC	VGNC:28244
Macaca mulatta	DUOXA2	VGNC	VGNC:72031

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