DUOX2 dual oxidase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DUOX2provided by HGNC
Official Full Name: dual oxidase 2provided by HGNC
Primary source: HGNC:HGNC:13273
See related: Ensembl:ENSG00000140279 MIM:606759; AllianceGenome:HGNC:13273
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TDH6; LNOX2; THOX2; NOXEF2; P138-TOX
Summary: The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]
Expression: Biased expression in gall bladder (RPKM 216.4), thyroid (RPKM 55.7) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.1

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (45092650..45114172, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (42900666..42922193, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (45384848..45406370, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
Title: Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.
Title: Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.
Another Breach in the Wall: Impaired Epithelial DUOX2 Activity Fuels Metabolic Syndrome.
Title: Another Breach in the Wall: Impaired Epithelial DUOX2 Activity Fuels Metabolic Syndrome.
DUOX2 regulates secreted factors in virus-infected respiratory epithelial cells that contribute to neutrophil attraction and activation.
Title: DUOX2 regulates secreted factors in virus-infected respiratory epithelial cells that contribute to neutrophil attraction and activation.
Increased NOX1 and DUOX2 expression in the colonic mucosa of patients with chronic functional constipation.
Title: Increased NOX1 and DUOX2 expression in the colonic mucosa of patients with chronic functional constipation.
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Title: Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.
Title: Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.
Dual NADPH oxidases DUOX1 and DUOX2 synthesize NAADP and are necessary for Ca(2+) signaling during T cell activation.
Title: Dual NADPH oxidases DUOX1 and DUOX2 synthesize NAADP and are necessary for Ca(2+) signaling during T cell activation.
A truncated protein product of the germline variant of the DUOX2 gene leads to adenomatous polyposis.
Title: A truncated protein product of the germline variant of the DUOX2 gene leads to adenomatous polyposis.
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism.
Title: Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism.

Submit: New GeneRIF Correction See all GeneRIFs (106)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Thyroid dyshormonogenesis 6 MedGen: C1846632 OMIM: 607200 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	Treatment of human primary astrocytes with HIV-1 Vpr downregulates expression of eleven genes, BNIP3, CYGB, DUOX2, DUSP1, FOXM1, GAPDH, HPRT1, MT3, MTL5, PTGS2, and SCARA3	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-57395 (e-PCR)
- UniSTS:31078

D11S3114 (e-PCR)
- UniSTS:152207

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD(P)H oxidase H2O2-forming activity	IDA Inferred from Direct Assay more info	PubMed
enables NAD(P)H oxidase H2O2-forming activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables NAD(P)H oxidase H2O2-forming activity	TAS Traceable Author Statement more info
enables NADH oxidase H202-forming activity	IEA Inferred from Electronic Annotation more info
enables NADPH oxidase H202-forming activity	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	IEA Inferred from Electronic Annotation more info
enables peroxidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables superoxide-generating NAD(P)H oxidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in cuticle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response	IBA Inferred from Biological aspect of Ancestor more info
involved_in hormone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in hydrogen peroxide catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell motility	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of wound healing	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to cAMP	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cAMP	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info
involved_in superoxide anion generation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in thyroid hormone generation	IEA Inferred from Electronic Annotation more info
involved_in thyroid hormone generation	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
part_of NADPH oxidase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell leading edge	IGI Inferred from Genetic Interaction more info	PubMed
located_in cell surface	IGI Inferred from Genetic Interaction more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: dual oxidase 2

Names: NADH/NADPH thyroid oxidase p138-tox; NADPH oxidase/peroxidase DUOX2; NADPH thyroid oxidase 2; dual oxidase-like domains 2; flavoprotein NADPH oxidase; large NOX 2; long NOX 2; nicotinamide adenine dinucleotide phosphate oxidase; p138 thyroid oxidase; thyroid oxidase 2

NP_001350640.1

EC 1.6.3.1

NP_054799.4

EC 1.6.3.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009447.1 RefSeqGene

Range

4990..26512

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001363711.2 → NP_001350640.1 dual oxidase 2 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC091117

Consensus CDS

CCDS86454.1

UniProtKB/TrEMBL

X6RAN8

Related

ENSP00000373691.7, ENST00000389039.11

Conserved Domains (6) summary

cd06186
Location:1274 → 1548

NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...

cd09820
Location:38 → 594

dual_peroxidase_like; Dual oxidase and related animal heme peroxidases

cd00051
Location:824 → 885

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam01794
Location:1088 → 1223

Ferric_reduct; Ferric reductase like transmembrane component

pfam13499
Location:857 → 929

EF-hand_7; EF-hand domain pair

cl25352
Location:764 → 858

EFh_PEF; The penta-EF hand (PEF) family
NM_014080.5 → NP_054799.4 dual oxidase 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_054799.4

Status: REVIEWED

Source sequence(s)

AC091117, AF230496, BI045475

Consensus CDS

CCDS10117.1

UniProtKB/Swiss-Prot

A8MQ13, D2XI64, Q9NR02, Q9NRD8, Q9UHF9

Related

ENSP00000475084.1, ENST00000603300.1

Conserved Domains (6) summary

cd06186
Location:1274 → 1548

NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...

cd09820
Location:38 → 594

dual_peroxidase_like; Dual oxidase and related animal heme peroxidases

cd00051
Location:824 → 885

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam01794
Location:1088 → 1223

Ferric_reduct; Ferric reductase like transmembrane component

pfam03098
Location:36 → 547

An_peroxidase; Animal haem peroxidase

pfam13499
Location:824 → 884

EF-hand_7; EF-hand domain pair