Version 5.4
Homo sapiens Protein: DUOXA2
Summary
InnateDB Protein IDBP-10106.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DUOXA2
Protein Name dual oxidase maturation factor 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000319705
InnateDB Gene IDBG-10104 (DUOXA2)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:16651268}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000269PubMed:16651268}; Multi-pass membrane protein {ECO:0000269PubMed:16651268}.
Disease Associations 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. {ECO:0000269PubMed:18042646}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Specifically expressed in thyroid. Also detected in salivary glands. {ECO:0000269PubMed:16651268}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0015031 protein transport
GO:0042743 hydrogen peroxide metabolic process
GO:0050727 regulation of inflammatory response
GO:2000609 regulation of thyroid hormone generation
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR018469 Dual oxidase maturation factor
PFAM PF10204
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q1HG44
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 405753
UniGene Hs.497987
RefSeq NP_997464
HUGO HGNC:32698
OMIM 612772
CCDS CCDS10118
HPRD 14224
IMGT
EMBL AC091117 BC137465 BX537581 CH471082 DQ489734
GenPept AAI37466 ABF48256 EAW77289

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

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Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca