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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DUOXA2 Gene

protein-coding GIFtS: 44
GCID: GC15P045406

dual oxidase maturation factor 2

Explore 8 diseases affiliated with
DUOXA2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Dual Oxidase Maturation Factor 2¹ ²
TDH5² ⁵
SIMNIPHOM²
Dual Oxidase Activator 2³

External Ids:	HGNC: 32698¹	Entrez Gene: 405753²	Ensembl: ENSG00000140274⁷	OMIM: 612772⁵	UniProtKB: Q1HG44³

Export aliases for DUOXA2 gene to outside databases

Previous GC identifers: GC15P043194 GC15P022230

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DUOXA2:

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)

UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44

Function: Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of

functional DUOX2. May play a role in thyroid hormone synthesis

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DUOXA2 gene promoter:
GR ER-alpha Elk-1 HOXA3 GR-beta Pax-2 IRF-1 HEN1 c-Myb GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DUOXA2 promoter sequence

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DUOXA2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15.1 Ensembl cytogenetic band: 15q21.1 HGNC cytogenetic band: 15q21.1

DUOXA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUOXA2 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P045406: view genomic region (about GC identifiers)

Start:	45,406,519 bp from pter	End:	45,410,619 bp from pter
Size:	4,101 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
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About This Section

UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44 (See protein sequence)

Recommended Name: Dual oxidase maturation factor 2

Size: 320 amino acids; 34787 Da

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein

Secondary accessions: B2RPI9

Explore the universe of human proteins at neXtProt for DUOXA2: NX_Q1HG44

Post-translational modifications:

N-glycosylated¹

View neXtProt modification sites for NX_Q1HG44

DUOXA2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_997464.2

ENSEMBL proteins:

ENSP00000319705 ENSP00000454110

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

DUOXA2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DUOXA2 for domains About GeneDecksing

1 InterPro domain/family:

IPR018469 Dual_oxidase_maturation_fac

Graphical View of Domain Structure for InterPro Entry Q1HG44

ProtoNet protein and cluster: Q1HG44

UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44

Similarity: Belongs to the DUOXA family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44

Function: Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of

functional DUOX2. May play a role in thyroid hormone synthesis

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About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DUOXA2

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0015031	protein transport	IEA	--

DUOXA2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for DUOXA2 gene:

NM_207581.3

Unigene Cluster for DUOXA2:

Dual oxidase maturation factor 2

Hs.497987 [show with all ESTs]

Unigene Representative Sequence: NM_207581

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000323030(uc001zuo.3) ENST00000350243 ENST00000491993(uc010beb.3)

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Additional cDNA sequence:

AK303955.1 BC137465.1 DQ489734.1

4 DOTS entries:

DT.121016596 DT.423397 DT.121016597 DT.99939778

24/27 AceView cDNA sequences (see all 27):

AI791844 AI274929 AI660493 AI826629 AI984141 AI991272 AI732165 AI304327

AI262416 AI281211 AA593860 AI821178 BX537581 AI346155 BX479782 AI821606

NM_207581 BV188008 AI983793 AW050605 AI660560 AA573825 AW009962 BM987789

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DUOXA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCGCAGGCTT

About this image
See DUOXA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DUOXA2

SOURCE GeneReport for Unigene cluster: Hs.497987

UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44

Tissue specificity: Specifically expressed in thyroid. Also detected in salivary glands

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for DUOXA2 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DUOXA1⁶ DUOXA1⁶	Uncharacterized protein	47(a) 44(a)	many ↔ many many ↔ many	10(400819-405721) 10(393757-397636)
lizard (Anolis carolinensis)	Reptilia	--	--	50(a)	1 → many	GL343490.1(227341-236741)
zebrafish (Danio rerio)	Actinopterygii	LOC100330288¹	dual oxidase maturation factor 2-like	57.31(n) 48.97(a)		100330288 XM_002666907.1 XP_002666953.1
fruit fly (Drosophila melanogaster)	Insecta	mol⁶	moladietz	19(a)	1 → many	2L(14975747-14997559)
worm (Caenorhabditis elegans)	Secernentea	C06E1.3⁶	DUOXA-like protein C06E1.3	22(a)	1 → many	III(8581022-8583830)

ENSEMBL Gene Tree for DUOXA2 (if available)
TreeFam Gene Tree for DUOXA2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DUOXA2 gene

DUOXA1²

2 SIMAP similar genes for DUOXA2 using alignment to 2 protein entries: DOXA2_HUMAN (see all proteins):

NIP DUOXA1

DUOXA2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199519754^1,2	C	--	45408408(+)	`CAGCCC/TGTGTC`	2	R C	mis¹		1		EU	1323
rs2576090^1,2	C,F,O,H,	--	45408414(+)	`GTGTCG/CGTCTG`	2	/R /G	mis¹ ese³		20		NA NS EA WA CSA EU	2204
rs115251756^1,2	C,F,	--	45408639(+)	`CCCCCA/GCTTTC`	1	--	int¹		1		WA	118
rs202201713^1,2		--	45408680(+)	`CGACCG/TCGGGC`	1	--	int¹		0	--	--	--	--
rs2576091^1,2	C,F,A,H,	--	45408691(+)	`AGCCCG/CATGAG`	1	--	int¹		12		NA WA CSA EU	849
rs2252371^1,2	C,F,A,H,	--	45408699(+)	`GAGCCT/CGCCTC`	1	--	int¹		23		NS EA NA CSA WA EU	2939
rs2554459^1,2	C,F,A,H,	--	45408710(+)	`ACCCCG/ACAGGG`	1	--	int¹		21		EA NS NA WA CSA EU	2564
rs201808443^1,2	C,F	--	45408836(+)	`CAGTGC/GTCTAC`	2	L V	mis¹		1		EU	1293
rs61733394^1,2	C,F,	--	45408892(+)	`CAGTAC/TCACCT`	2	Y	syn¹		2		NS WA	196
rs2576092^1,2	C,F,H,	--	45408933(+)	`GTAAGC/TGCTGG`	1	--	int¹		25		NS EA NA WA CSA EU	3129

HapMap Linkage Disequilibrium report for DUOXA2 (45406519 - 45410619 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for DUOXA2
1 CNV: 3961
Human Gene Mutation Database (HGMD): DUOXA2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DUOXA2 for disorders           About GeneDecksing

OMIM gene information: 612772
OMIM disorders: 274900
UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44

Defects in DUOXA2 are the cause of thyroid dyshormonogenesis 5 (TDH5) [MIM:274900]. A disorder due to thyroid

dyshormonogenesis, causing hypothyroidism, goiter, and variable mental deficits derived from unrecognized and

untreated hypothyroidism

8 diseases for DUOXA2: About MalaCards

thyroid dyshormonogenesis 5 thyroiditis congenital hypothyroidism ulcerative colitis

hypothyroidism goiter pancreatic cancer pancreatitis

1 disease from the University of Copenhagen DISEASES database for DUOXA2:

Congenital hypothyroidism

Human Genome Epidemiology (HuGE) Navigator: DUOXA2 (1 document)

Export disorders for DUOXA2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DUOXA2 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with DUOXA2)

Utopia: connect your pdf to the dynamic
world of online information

Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. (PubMed id 16651268)^{1, 2, 3} Grasberger H. and Refetoff S. (2006)
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. (PubMed id 18042646)^{1, 2} Zamproni I.... Weber G. (2008)
The type of DUOX-dependent ROS production is dictated by defined sequences in DUOXA. (PubMed id 22814254)¹ Hoste C....De Deken X. (2012)
Dual oxidase 2 bidirectional promoter polymorphisms co nfer differential immune responses in airway epithelia. (PubMed id 22592922)¹ Xu C....Harper R.W. (2012)
Up-regulation and sustained activation of Stat1 are e ssential for interferon-gamma (IFN-gamma)-induced dual oxidase 2 (Duox2) and du al oxidase A2 (DuoxA2) expression in human pancreatic cancer cell lines. (PubMed id 21321110)¹ Wu Y....Doroshow J.H. (2011)
Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells. (PubMed id 19339556)¹ Luxen S....Knaus U.G. (2009)
Five mucosal transcripts of interest in ulcerative colitis identified by quantitative real-time PCR: a prospective study. (PubMed id 18700007)¹ Eriksson A....Lange S. (2008)
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. (PubMed id 17374849)¹ Grasberger H....Refetoff S. (2007)
Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)² Zody M.C....Nusbaum C. (2006)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 405753	HGNC: 32698	AceView: LOC405753	Ensembl:ENSG00000140274	euGenes: HUgn405753
ECgene: DUOXA2	H-InvDB: DUOXA2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DUOXA2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DUOXA2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DUOXA2 gene:
Search GeneIP for patents involving DUOXA2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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DUOXA2 Gene

dual oxidase maturation factor 2

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DUOXA2 Gene

dual oxidase maturation factor 2

Aliasesfor DUOXA2 gene

Summariesfor DUOXA2 gene

Genomic Viewsfor DUOXA2 gene

Proteinsfor DUOXA2 gene

Protein Domains /Familiesfor DUOXA2 gene

Functionfor DUOXA2 gene

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Genome Databases showing DUOXA2 gene

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Aliases
for DUOXA2 gene

Summaries
for DUOXA2 gene

Genomic Views
for DUOXA2 gene

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for DUOXA2 gene

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Families
for DUOXA2 gene

Function
for DUOXA2 gene

Pathways & Interactions
for DUOXA2 gene

Drugs & Compounds
for DUOXA2 gene

Transcripts
for DUOXA2 gene

Expression
for DUOXA2 gene

Orthologs
for DUOXA2 gene

Paralogs
for DUOXA2 gene

Genomic Variants
for DUOXA2 gene

Disorders / Diseases
for DUOXA2 gene

Publications
for DUOXA2 gene

Intellectual Property
for DUOXA2 gene

Products
for DUOXA2 gene