Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 405753
MIM: 612772
HGNC: 32698
Ensembl: ENSG00000140274
Variants:
dbSNP: 405753
ClinVar: 405753
TCGA: ENSG00000140274
COSMIC: DUOXA2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000140274 | ENST00000323030 | Q1HG44 |
| ENSG00000140274 | ENST00000491993 | Q1HG44 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Thyroid hormone synthesis | KEGG | hsa04918 |
| Thyroid hormone synthesis | KEGG | ko04918 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32425884 | 2020 | DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism. | 8 |
| 32425884 | 2020 | DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism. | 8 |
| 31044655 | 2019 | DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom. | 18 |
| 31513783 | 2019 | The Dual Oxidase Duox2 stabilized with DuoxA2 in an enzymatic complex at the surface of the cell produces extracellular H(2)O(2) able to induce DNA damage in an inducible cellular model. | 3 |
| 31044655 | 2019 | DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom. | 18 |
| 31513783 | 2019 | The Dual Oxidase Duox2 stabilized with DuoxA2 in an enzymatic complex at the surface of the cell produces extracellular H(2)O(2) able to induce DNA damage in an inducible cellular model. | 3 |
| 28100324 | 2017 | [Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism]. | 2 |
| 28541007 | 2017 | Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. | 3 |
| 28100324 | 2017 | [Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism]. | 2 |
| 28541007 | 2017 | Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. | 3 |
| 27349010 | 2016 | Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. | 0 |
| 27349010 | 2016 | Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. | 0 |
| 25675383 | 2015 | A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression. | 12 |
| 25761904 | 2015 | When an Intramolecular Disulfide Bridge Governs the Interaction of DUOX2 with Its Partner DUOXA2. | 12 |
| 25675383 | 2015 | A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression. | 12 |
Citation
Dessen P
DUOXA2 (dual oxidase maturation factor 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45935/duoxa2
