DUOXA2 - dual oxidase maturation factor 2 Gene

Also Known as TDH5; SIMNIPHOM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 405753

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables enzyme binding IPI
IPI: Inferred from physical interaction
19339556 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25761904 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of cell motility IDA
IDA: Inferred from direct assay
19339556 GOA
involved in positive regulation of hydrogen peroxide biosynthetic process IDA
IDA: Inferred from direct assay
16651268 GOA
involved in positive regulation of hydrogen peroxide biosynthetic process IMP
IMP: Inferred from mutant phenotype
22814254 GOA
involved in protein localization IGI
IGI: Inferred from genetic interaction
16651268 GOA
involved in protein maturation IGI
IGI: Inferred from genetic interaction
16651268 GOA
Cellular Component GO Annotation Evidence References Source
located in apical part of cell IDA
IDA: Inferred from direct assay
25761904 GOA
located in cell leading edge IGI
IGI: Inferred from genetic interaction
19339556 GOA
located in cytosol IDA
IDA: Inferred from direct assay
19339556 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
16651268 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
19339556 GOA
located in plasma membrane IGI
IGI: Inferred from genetic interaction
25761904 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

DUOXA2 Protein Structure

DuoxA

DuoxA: Dual oxidase maturation factor (9 - 288)

  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04047 DUOXA2 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others DUOXA2 NCBI