WWOX Gene Summary [Human]
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Details
| Type | Protein Coding |
| Official Symbol | WWOX |
| Official Name | WW domain containing oxidoreductase [Source:HGNC Symbol;Acc:HGNC:12799] |
| Ensembl ID | ENSG00000186153 |
| Bio databases IDs | |
| Aliases | WW domain containing oxidoreductase, short chain dehydrogenase/reductase family 41C, member 1 |
| Synonyms | 5330426P09Rik, 9030416C10Rik, D16S432E, DEE28, EIEE28, FOR, FRA16D, HHCMA56, PRO0128, SCAR12, SDR41C1, WOX1, WW domain-containing oxidoreductase |
| 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 WWOX often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- Domain with 2 conserved Trp (W) residues
- transcription co-activator
- WW
- enzyme binding
- enzyme
- protein binding
- short chain dehydrogenase
- short chain dehydrogenase/reductase domain
- identical protein binding
- WW domain
- ADH domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic obstructive pulmonary disease
- squamous cell lung cancer
- gastrointestinal neoplasia
- epithelial neoplasia
- epithelial cancer
- cancer
- digestive system cancer
- neoplasia
- esophageal squamous cell cancer
- esophageal carcinoma formation
role in cell
- apoptosis
- colony formation
- survival
- migration
- expression in
- activation in
- phosphorylation in
- proliferation
- growth
- invasion
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
- cell surface
- perinuclear region
- Nucleus
- Plasma Membrane
- Golgi Apparatus
- Mitochondria
- cytosol
- perinuclear vesicles
- microvilli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WWOX gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to transforming growth factor beta stimulus
- positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
- signal transduction by p53 class mediator resulting in induction of apoptosis
- extrinsic apoptotic signaling pathway
- osteoblast differentiation
- Wnt receptor signaling pathway
- negative regulation of Wnt receptor signaling pathway
- positive regulation of extrinsic apoptotic signaling pathway
- positive regulation of transcription from RNA polymerase II promoter
- skeletal system morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- microvillus
- cytoplasm
- mitochondrion
- cytosol
- Golgi apparatus
- plasma membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- transcription coactivator activity
- oxidoreductase activity
- enzyme binding