• Gene id: 405753

Gene Summary

• Gene Symbol: DUOXA2   Gene   UCSC   Ensembl
• Aliases: SIMNIPHOM, TDH5
• Gene name: dual oxidase maturation factor 2
• Alternate names: dual oxidase maturation factor 2,
• Gene location: 15q21.1 (45114320: 45118420)     Exons: 6     NC_000015.10
• Gene summary(Entrez): 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]
• OMIM: 617417

Protein Summary

• Protein general information: Q1HG44  
  • Name: Dual oxidase maturation factor 2 (Dual oxidase activator 2)
  • Length: 320  
  • Mass: 34787
  • Tissue specificity: Specifically expressed in thyroid. Also detected in salivary glands. {ECO
• Sequence:

  MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPGIRGHSRWFWLVRVLLSLFIGAEIVAVHFSAE
  WFVGTVNTNTSYKAFSAARVTARVRLLVGLEGINITLTGTPVHQLNETIDYNEQFTWRLKENYAAEYANALEKGL
  PDPVLYLAEKFTPSSPCGLYHQYHLAGHYASATLWVAFCFWLLSNVLLSTPAPLYGGLALLTTGAFALFGVFALA
  SISSVPLCPLRLGSSALTTQYGAAFWVTLATGVLCLFLGGAVVSLQYVRPSALRTLLDQSAKDCSQERGGSPLIL
  GDPLHKQAALPDLKCITTNL

• Structural information:
  • Interpro: IPR018469  
  • STRING: ENSP00000319705
• Other Databases: GeneCards:  DUOXA2  Malacards:  DUOXA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0042743	hydrogen peroxide metabolic process	IEA	biological process
GO:2000609	regulation of thyroid hormone generation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:2000147	positive regulation of cell motility	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0010729	positive regulation of hydrogen peroxide biosynthetic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031252	cell leading edge	IGI	cellular component
GO:0034613	cellular protein localization	IGI	biological process
GO:0005886	plasma membrane	IGI	cellular component
GO:0010729	positive regulation of hydrogen peroxide biosynthetic process	IMP	biological process
GO:0051604	protein maturation	IGI	biological process
GO:0008104	protein localization	IGI	biological process
GO:0008104	protein localization	IGI	biological process
GO:0008104	protein localization	IGI	biological process
GO:0016020	membrane	IBA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0042743	hydrogen peroxide metabolic process	IEA	biological process
GO:2000609	regulation of thyroid hormone generation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:2000147	positive regulation of cell motility	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0010729	positive regulation of hydrogen peroxide biosynthetic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031252	cell leading edge	IGI	cellular component
GO:0034613	cellular protein localization	IGI	biological process
GO:0005886	plasma membrane	IGI	cellular component
GO:0010729	positive regulation of hydrogen peroxide biosynthetic process	IMP	biological process
GO:0051604	protein maturation	IGI	biological process
GO:0008104	protein localization	IGI	biological process
GO:0008104	protein localization	IGI	biological process
GO:0008104	protein localization	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04918	Thyroid hormone synthesis

Diseases

Associated diseases	References
Thyroid dyshormonogenesis	KEGG:H00251
Thyroid dyshormonogenesis	KEGG:H00251
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881