Property Summary

NCBI Gene PubMed Count 16
PubMed Score 17.01
PubTator Score 18.97

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (6)

Disease log2 FC p
urothelial carcinoma -2.000 1.1e-05
uncontrolled asthma -1.300 2.8e-02
juvenile dermatomyositis -1.048 2.0e-12
active Crohn's disease 3.647 7.2e-03
active ulcerative colitis 5.184 1.2e-04
head and neck cancer 1.300 3.9e-02

Gene RIF (14)

PMID Text
27349010 inactivating mutations in the DUOXA2 (p.Y246X) and DUOX2 (p.R885Q) genes were identified in a set of dizygotic twins with congenital hypothyroidism
25761904 The folding of DUOX2 appears to be a key event in the trafficking of the DUOX2/DUOXA2 complex as it promotes an appropriate conformation of the N-terminal region, which is propitious to subsequent covalent interactions with the maturation factor, DUOXA2.
25675383 a novel DUOXA2 mutation (I26M) causing congenital hypothyroidism with goiter, which affected H2O2 generation but did not alter the protein expression levels, further confirming the essential role of DUOXA2 in thyroid hormone synthesis.
24492313 DUOXA2 is Significantly Upregulated in Active Ulcerative Colitis and during Progression to Dysplasia.
23292166 This study is the first to report a novel c.413-414insA (Y138X) mutation for congenital hypothyroidism, thereby expanding the mutational spectrum of the DUOXA2 gene.
23010498 The DUOX-expressing model, the human intestinal Caco-2 cell line, expression of DUOXA2 mRNA was also positively modulated by IL-4 and IL-13.
22814254 Native DUOXA2 would constrain DUOX2 to produce H(2)O(2).
22592922 Two functionally important single-nucleotide polymorphisms within the promoter differentially regulate DUOX2/DUOXA2 transcription in response to exogenous double-stranded DNA.
21321110 Up-regulation and sustained activation of Stat1 are essential for interferon-gamma (IFN-gamma)-induced dual oxidase 2 (Duox2) and dual oxidase A2 (DuoxA2) expression in human pancreatic cancer cell lines.
19339556 Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells.
18700007 The five gene transcripts (aldolase B, elafin, MST-1, simNIPhom and SLC6A14) were changed in patients with ulcerative colitis, and were related to the disease activity.
18042646 Results provide evidence for the critical role of DUOXA2 in thyroid hormonogenesis. Biallelic DUOXA2 mutations are a novel genetic event in permanent congenital hypothroidism.
17374849 DUOXA2 allows rapid ER exit of folded DUOX2 or enhanced degradation of mutant DUOX2 proteins not competent for ER exit.
16651268 co-expression of DUOXA2, an ER-resident transmembrane protein, allows ER-to-Golgi transition, maturation, and translocation to the plasma membrane of functional DUOX2 in a heterologous system

AA Sequence

MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPGIRGHSRWFWLVRVLLSLFIGAEIVAV      1 - 70
HFSAEWFVGTVNTNTSYKAFSAARVTARVRLLVGLEGINITLTGTPVHQLNETIDYNEQFTWRLKENYAA     71 - 140
EYANALEKGLPDPVLYLAEKFTPSSPCGLYHQYHLAGHYASATLWVAFCFWLLSNVLLSTPAPLYGGLAL    141 - 210
LTTGAFALFGVFALASISSVPLCPLRLGSSALTTQYGAAFWVTLATGVLCLFLGGAVVSLQYVRPSALRT    211 - 280
LLDQSAKDCSQERGGSPLILGDPLHKQAALPDLKCITTNL                                  281 - 320
//

Text Mined References (19)

PMID Year Title
27349010 2016 Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism.
25761904 2015 When an Intramolecular Disulfide Bridge Governs the Interaction of DUOX2 with Its Partner DUOXA2.
25675383 2015 A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression.
24492313 2014 DUOX2 and DUOXA2 form the predominant enzyme system capable of producing the reactive oxygen species H2O2 in active ulcerative colitis and are modulated by 5-aminosalicylic acid.
23292166 2013 A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism.
23010498 2013 Thyroid hydrogen peroxide production is enhanced by the Th2 cytokines, IL-4 and IL-13, through increased expression of the dual oxidase 2 and its maturation factor DUOXA2.
22814254 2012 The type of DUOX-dependent ROS production is dictated by defined sequences in DUOXA.
22592922 2012 Dual oxidase 2 bidirectional promoter polymorphisms confer differential immune responses in airway epithelia.
21321110 2011 Up-regulation and sustained activation of Stat1 are essential for interferon-gamma (IFN-gamma)-induced dual oxidase 2 (Duox2) and dual oxidase A2 (DuoxA2) expression in human pancreatic cancer cell lines.
19339556 2009 Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells.
18700007 2008 Five mucosal transcripts of interest in ulcerative colitis identified by quantitative real-time PCR: a prospective study.
18042646 2008 Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17374849 2007 Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
16651268 2006 Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.