AlphaFold predicted structure
WWOX · Q9NZC7
Mean pLDDT
85.6/ 100
Confident
414 residues
Confidence breakdown
- Very high(≥ 90)57%
- Confident(70–90)28%
- Low(50–70)4%
- Very low(< 50)10%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
WWOX
Chr 16q23.1-q23.2WW domain containing oxidoreductase
- Aliases:
- FOR, WOX1, SDR41C1
- MANE:
- ENST00000566780.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
autosomal recessive spinocerebellar ataxia 12
0.80developmental and epileptic encephalopathy, 28
0.78undetermined early-onset epileptic encephalopathy
0.71Spasticity - intellectual disability - X-linked epilepsy
0.56developmental and epileptic encephalopathy, 1
0.56esophageal cancer
0.56Rolandic epilepsy
0.45self-limited epilepsy with centrotemporal spikes
0.45alcohol drinking
0.44esophageal squamous cell carcinoma
0.43
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
WW domain-containing oxidoreductase
Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm
Diseases associated with WWOX
Curated MONDO disease pages that list WWOX among their top associated genes.