DUOXA2 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | DUOXA2 |
| Official Name | dual oxidase maturation factor 2 [Source:HGNC Symbol;Acc:HGNC:32698] |
| Ensembl ID | ENSG00000140274 |
| Bio databases IDs | |
| Aliases | dual oxidase maturation factor 2 |
| Synonyms | 9030623N16Rik, dual oxidase maturation factor 2, Nip2, RGD1560628, SIMNIPHOM, TDH5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DUOXA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Dual oxidase maturation factor
- enzyme binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- thyroid dyshormonogenesis 5
- hereditary disorder
- congenital hypothyroidism
- dextran sodium sulfate-induced colitis
- epithelial thyroid cancer
- anaplastic thyroid carcinoma
- anaplastic thyroid cancer
- iodide organification defect
role in cell
- generation in
- processing in
- folding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular space
- apical compartment
- Plasma Membrane
- Endoplasmic Reticulum
- cytosol
- cell membrane leading edge
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DUOXA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of hydrogen peroxide biosynthetic process
- regulation of thyroid hormone generation
- protein transport
- protein localization
- regulation of inflammatory response
- protein maturation
- hydrogen peroxide metabolic process
- positive regulation of cell motility
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- apical part of cell
- cell leading edge
- membrane
- cytosol
- endoplasmic reticulum
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- enzyme binding