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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	405753
Gene name Gene Name - the full gene name approved by the HGNC.	Dual oxidase maturation factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DUOXA2
Synonyms (NCBI Gene) Gene synonyms aliases	SIMNIPHOM, TDH5
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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 Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Congenital Hypothyroidism	congenital hypothyroidism	N/A	N/A	ClinVar
Thyroid Dyshormonogenesis	familial thyroid dyshormonogenesis	N/A	N/A	GenCC

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)