Reviewed September 2015
What is the official name of the DUOX2 gene?
The official name of this gene is “dual oxidase 2.”
DUOX2 is the gene's official symbol. The DUOX2 gene is also known by other names, listed below.
What is the normal function of the DUOX2 gene?
The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. This enzyme is found in the thyroid gland, which is a butterfly-shaped tissue in the lower neck. The enzyme is also found in salivary glands, the digestive tract, and airways in the throat and lungs. Dual oxidase 2 helps generate a chemical called hydrogen peroxide. In the thyroid, hydrogen peroxide is required for one of the final steps in the production of thyroid hormones. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism).
Does the DUOX2 gene share characteristics with other genes?
The DUOX2 gene belongs to a family of genes called EF-hand domain containing (EF-hand domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the DUOX2 gene related to health conditions?
- congenital hypothyroidism - caused by mutations in the DUOX2 gene
Researchers have identified several DUOX2 gene mutations that cause congenital hypothyroidism, a condition characterized by a reduction of thyroid hormone levels that is present from birth. Most of these mutations result in an abnormally small version of the dual oxidase 2 enzyme. The remaining mutations change one of the building blocks (amino acids) used to make the enzyme, which probably alters the enzyme's structure. All DUOX2 gene mutations limit the enzyme's ability to generate hydrogen peroxide. Without sufficient hydrogen peroxide, thyroid hormone production is disrupted. In some cases, the thyroid gland is enlarged (goiter) in an attempt to compensate for reduced thyroid hormone production. Because cases caused by mutations in the DUOX2 gene are due to a disruption of thyroid hormone synthesis, they are classified as thyroid dyshormonogenesis.
The reduction in thyroid hormone production is affected by the number of DUOX2 genes with a mutation. Each cell in the body has two copies of the DUOX2 gene. If both copies of the gene have a mutation, cells in the thyroid gland generate very little hydrogen peroxide. As a result, thyroid hormone levels are extremely low, causing severe congenital hypothyroidism. If only one copy of the DUOX2 gene is mutated, some hydrogen peroxide is produced. As a result, thyroid hormone levels are slightly reduced, causing mild congenital hypothyroidism. Sometimes, mild congenital hypothyroidism is temporary (transient), and thyroid hormone levels that are low during infancy increase with age.
Where is the DUOX2 gene located?
Cytogenetic Location: 15q15.3
Molecular Location on chromosome 15: base pairs 45,092,653 to 45,114,161
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/50506))
The DUOX2 gene is located on the long (q) arm of chromosome 15 at position 15.3.
More precisely, the DUOX2 gene is located from base pair 45,092,653 to base pair 45,114,161 on chromosome 15.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about DUOX2?
You and your healthcare professional may find the following resources about DUOX2 helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for DUOX2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50506%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28DUOX2%5BTIAB%5D%29%20OR%20%28dual%20oxidase%202%5BTIAB%5D%29%29%20OR%20%28%28dual%20oxidase%202%20precursor%5BTIAB%5D%29%20OR%20%28LNOX2%5BTIAB%5D%29%20OR%20%28THOX2%5BTIAB%5D%29%20OR%20%28P138-TOX%5BTIAB%5D%29%20OR%20%28NADPH%20thyroid%20oxidase%202%5BTIAB%5D%29%20OR%20%28dual%20oxidase-like%20domains%202%5BTIAB%5D%29%20OR%20%28NADPH%20oxidase/peroxidase%20DUOX2%5BTIAB%5D%29%20OR%20%28NADH/NADPH%20thyroid%20oxidase%20p138-tox%5BTIAB%5D%29%20OR%20%28nicotinamide%20adenine%20dinucleotide%20phosphate%20oxidase%5BTIAB%5D%29%20OR%20%28P138%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/606759)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_DUOX2.html)
- HGNC Gene Family: EF-hand domain containing (http://www.genenames.org/cgi-bin/genefamilies/set/863)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=13273)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/50506)
What other names do people use for the DUOX2 gene or gene products?
- flavoprotein NADPH oxidase
- NADPH thyroid oxidase 2
- nicotinamide adenine dinucleotide phosphate oxidase
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding DUOX2?
hydrogen peroxide ;
thyroid hormones ;
You may find definitions for these and many other terms in the Genetics Home Reference
- De Deken X, Wang D, Dumont JE, Miot F. Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system. Exp Cell Res. 2002 Feb 15;273(2):187-96. (http://www.ncbi.nlm.nih.gov/pubmed/11822874?dopt=Abstract)
- OMIM: DUAL OXIDASE 2 (http://omim.org/entry/606759)
- El Hassani RA, Benfares N, Caillou B, Talbot M, Sabourin JC, Belotte V, Morand S, Gnidehou S, Agnandji D, Ohayon R, Kaniewski J, Noël-Hudson MS, Bidart JM, Schlumberger M, Virion A, Dupuy C. Dual oxidase2 is expressed all along the digestive tract. Am J Physiol Gastrointest Liver Physiol. 2005 May;288(5):G933-42. Epub 2004 Dec 9. (http://www.ncbi.nlm.nih.gov/pubmed/15591162?dopt=Abstract)
- Forteza R, Salathe M, Miot F, Forteza R, Conner GE. Regulated hydrogen peroxide production by Duox in human airway epithelial cells. Am J Respir Cell Mol Biol. 2005 May;32(5):462-9. Epub 2005 Jan 27. (http://www.ncbi.nlm.nih.gov/pubmed/15677770?dopt=Abstract)
- Geiszt M, Witta J, Baffi J, Lekstrom K, Leto TL. Dual oxidases represent novel hydrogen peroxide sources supporting mucosal surface host defense. FASEB J. 2003 Aug;17(11):1502-4. Epub 2003 Jun 3. (http://www.ncbi.nlm.nih.gov/pubmed/12824283?dopt=Abstract)
- Jin HY, Heo SH, Kim YM, Kim GH, Choi JH, Lee BH, Yoo HW. High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. Horm Res Paediatr. 2014;82(4):252-60. doi: 10.1159/000362235. Epub 2014 Sep 20. (http://www.ncbi.nlm.nih.gov/pubmed/25248169?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/50506)
- Varela V, Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Targovnik HM. Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. Clin Chem. 2006 Feb;52(2):182-91. Epub 2005 Dec 1. (http://www.ncbi.nlm.nih.gov/pubmed/16322276?dopt=Abstract)
- Wang F, Lu K, Yang Z, Zhang S, Lu W, Zhang L, Liu S, Yan S. Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes. Clin Endocrinol (Oxf). 2014 Sep;81(3):452-7. doi: 10.1111/cen.12469. Epub 2014 May 19. (http://www.ncbi.nlm.nih.gov/pubmed/24735383?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.