Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	405753
Gene name	Dual oxidase maturation factor 2
Gene symbol	DUOXA2
Synonyms (NCBI Gene)	SIMNIPHOMTDH5
Chromosome	15
Chromosome location	15q21.1
Summary	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]

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs778410503	->A	Pathogenic	Coding sequence variant, stop gained
rs1555415049	C>G	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25761904
GO:0005783	Component	Endoplasmic reticulum	IDA	16651268, 19339556
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA	19339556
GO:0005886	Component	Plasma membrane	IDA	19339556
GO:0005886	Component	Plasma membrane	IGI	25761904
GO:0008104	Process	Intracellular protein localization	IGI	16651268, 19339556, 22814254
GO:0010729	Process	Positive regulation of hydrogen peroxide biosynthetic process	IDA	16651268
GO:0010729	Process	Positive regulation of hydrogen peroxide biosynthetic process	IMP	22814254
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	19339556
GO:0031252	Component	Cell leading edge	IGI	19339556
GO:0042743	Process	Hydrogen peroxide metabolic process	IEA
GO:0045177	Component	Apical part of cell	IDA	25761904
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0051604	Process	Protein maturation	IGI	16651268
GO:2000147	Process	Positive regulation of cell motility	IDA	19339556
GO:2000609	Process	Regulation of thyroid hormone generation	IEA

MIM	HGNC	e!Ensembl
612772	32698	ENSG00000140274

Q1HG44

Protein name

Dual oxidase maturation factor 2 (Dual oxidase activator 2)

Protein 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10204	DuoxA	10 → 286	Dual oxidase maturation factor	Family

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in thyroid. Also detected in salivary glands. {ECO:0000269|PubMed:16651268}.

Sequence

MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPGIRGHSRWFWLVRVLLS
LFIGAEIVAVHFSAEWFVGTVNTNTSYKAFSAARVTARVRLLVGLEGINITLTGTPVHQL
NETIDYNEQFTWRLKENYAAEYANALEKGLPDPVLYLAEKFTPSSPCGLYHQYHLAGHYA
SATLWVAFCFWLLSNVLLSTPAPLYGGLALLTTGAFALFGVFALASISSVPLCPLRLGSS
ALTTQYGAAFWVTLATGVLCLFLGGAVVSLQYVRPSALRTLLDQSAKDCSQERGGSPLIL
GDPLHKQAALPDLKCITTNL

Sequence length

320

Interactions

View interactions

	KEGG
	Thyroid hormone synthesis

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial thyroid dyshormonogenesis	Likely pathogenic; Pathogenic	rs4774518, rs778410503	RCV005357049 RCV005361226
Thyroglobulin synthesis defect	Likely pathogenic; Pathogenic	rs4774518, rs377426710, rs2504803353, rs778410503, rs2504810072, rs1555415049, rs781126484, rs770148072, rs974496530	RCV000000473 RCV002283662 RCV002470451 RCV000490516 RCV003331954 RCV000660507 RCV001175131 RCV001248815 RCV001251192

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital hypothyroidism	Conflicting classifications of pathogenicity	rs201506037, rs201808443	RCV001270332 RCV001270333
DUOXA2-related disorder	Conflicting classifications of pathogenicity; Likely benign	rs201506037, rs772785021, rs201808443, rs767104514, rs769776095	RCV004758679 RCV003941831 RCV003922669 RCV003940825 RCV003950528

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma in Situ	Associate	32425884
Colitis Ulcerative	Associate	18700007, 32190668
Congenital Hypothyroidism	Associate	18042646, 26709262, 26758695, 28541007, 31044655, 32425884, 34200080, 40362701
Genetic Diseases Inborn	Associate	27578510, 28541007
Goiter	Associate	18042646
Hypothyroidism	Associate	21367925
Inflammation	Associate	32190668
Pancreatic Neoplasms	Associate	21321110, 31548328
Pulmonary Disease Chronic Obstructive	Associate	20395558
Thyroid Dysgenesis	Associate	32425884
Thyroid Dyshormonogenesis 1	Associate	18042646, 33692749
Thyroid Dyshormonogenesis 1	Stimulate	34539567

DUOXA2 (dual oxidase maturation factor 2)