Gene
WWOX
WW domain containing oxidoreductase
- HGNC 12799↗(opens in a new tab)
- Ensembl gene ENSG00000186153↗(opens in a new tab)
- NCBI Gene 51741↗(opens in a new tab)
Summary
- Cytogenetic location
- 16q23.1-q23.2
- Coordinates
- Chromosome 16: 78,099,654–79,212,667 (GRCh38)
- Exons
- 9 exons across 1,113 kb
- Protein
- 414 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- FOR, WOX1, SDR41C1
- MANE Select transcript
- ENST00000566780.6NM_016373.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)
- Autosomal Recessive Cerebellar AtaxiaAutosomal recessive
One of 57 genes linked to it
A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.
Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How WWOX is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.2 kb of the gene's 1,113 kb; 1,245 of those bases code for the protein.
How a genome test reads WWOX
73
positions in WWOX where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 1,113 kb of WWOX, introns included, not only the 2.2 kb of exons.
Genes linked to the same conditions
- PNKPpolynucleotide kinase 3'-phosphataseShares 2 conditions
- RUBCNrubicon autophagy regulatorShares 2 conditions
- TDP2tyrosyl-DNA phosphodiesterase 2Shares 2 conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- AHI1Abelson helper integration site 1Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- ANO10anoctamin 10Shares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
Traits linked to WWOX
The Human Phenotype Ontology lists these as features of the rare conditions WWOX can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Cerebellar vermis atrophy
- Decreased reflex response
- Difficulty articulating speech
- EEG abnormality
- Epilepsy
- Epileptic encephalopathy
- Global developmental delay
Show 23 more traits
- Grand mal seizures
- Inability to coordinate movements when walking
- Intellectual disability
- Repeated seizures without recovery between them
- Simplified gyral pattern
- Underdevelopment of part of brain called corpus callosum
- Decreased muscle movement
- Delayed speech and language development
- Limb ataxia
- Motor delay
- Babinski sign
- Degeneration of cerebrum
- Epileptic spasm
- Increased reflexes
- Poor eye contact
- Thin corpus callosum
- Bilateral tonic-clonic seizure with focal onset
- Brief seizures with staring spells
- Delayed CNS myelination
- Focal clonic seizure
- Focal tonic seizure
- Generalized clonic seizure
- Degeneration of cerebellum
Abnormality of the genitourinary system
- Abnormal internal genitalia
- Abnormal labia morphology
- Abnormal scrotum morphology
- Abnormal sex determination
- Abnormal vagina morphology
- Absent sperm in semen
- Ambiguous external genitalia
- Decreased fertility in females
Show 20 more traits
- Decreased testicular size
- Enlarged clitoris
- Female external genitalia in individual with 46,XY karyotype
- Gonadal dysgenesis
- Hypospadias
- Male infertility
- Primary amenorrhea
- Short penis
- Streak ovary
- Underdeveloped penis
- Underdeveloped vagina
- Urogenital sinus anomaly
- Vanishing testis
- Gonadoblastoma
- Undescended testes
- Ovarian gonadoblastoma
- Testicular gonadoblastoma
- Urinary bladder sphincter dysfunction
- Nephroblastoma
- Nephrotic syndrome
Abnormality of the endocrine system
- Decreased serum estradiol
- Decreased serum testosterone level
- Elevated circulating follicle stimulating hormone level
- Elevated circulating luteinizing hormone level
- Hypergonadotropic hypogonadism
- Increased circulating gonadotropin level
- Delayed puberty
- Absence of secondary sex characteristics
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). WWOX gene: WW domain containing oxidoreductase. Retrieved 17 October 2026, from https://dantelabs.com/genes/wwox
Dante Labs. WWOX gene: WW domain containing oxidoreductase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/wwox
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