WW Domain-Containing Oxidoreductase

Alternative Names

  • WWOX
  • Fragile Site FRA16D Oxidoreductase
  • FOR WOX1
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OMIM Number

605131

NCBI Gene ID

51741

Uniprot ID

Q9NZC7

Length

1,113,238 bases

No. of Exons

10

No. of isoforms

7

Protein Name

WW domain-containing oxidoreductase

Molecular Mass

46,677Da

Amino Acid Count

414

Genomic Location

chr16:78,099,430-79,212,667

Gene Map Locus
16q23.1-q23.2

Description

The WWOX gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family.  An overexpression of the WWOX transcripts was seen in breast cancer cell lines.  A role of WWOX in steroid metabolism was indicated by the fact that its highest levels of expression happen normally in tissues such as testis, ovary, and prostate.  WWOX LOF was found in numerous human malignancies suggesting a tumor suppressor role for WWOX.  Moreover, expression of the encoded protein can induce apoptosis.   

Mutations in WWOX gene also cause Autosomal Recessive Spinocerebellar Ataxia 12.

Molecular Genetics

The WWOX gene is a large gene that spans a length of 1 Mbp on the long arm of chromosome 16.  This region spans the FRA16D common chromosomal fragile site.  In spite of the large size, the encoded protein is not large.  In fact, the gene consists of only nine exons that together code for a protein that is 414 amino acids long.  The WWOX protein contains 2 WW domains coupled with the region containing short-chain dehydrogenases/reductases (SDR) protein family.  The WW domains play a role in interactions with proline-rich recognition motifs in other proteins.  

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016373.3:c.410-17474_516+10296delUnited Arab EmiratesNC_000016.10:g.78146709_78174585delPathogenicDevelopmental and Epileptic Encephalopathy 28NG_011698.1:g.52053_79932; NM_016373.3:c.410-17474_516+10296del; NP_057457.1:p.?
NM_016373.4:c.(?_173)_(409_?)delUnited Arab EmiratesNC_000016.10:g.(?_78109778)_(78115154_?)Likely PathogenicDevelopmental and Epileptic Encephalopathy 28NG_011698.1:g.(?_15125)_(20501_?)del; NM_016373.4:c.(?_173)_(409_?)del
NM_016373.4:c.107+3A>GUnited Arab EmiratesNC_000016.10:g.78099888A>GLikely PathogenicDevelopmental and Epileptic Encephalopathy 28NG_011698.1:g.5235A>G; NM_016373.4:c.107+3A>G; NP_057457.1:p.?1220855233
NM_016373.4:c.606-1G>AUnited Arab EmiratesNC_000016.10:g.78424869G>APathogenicLikely PathogenicDevelopmental and Epileptic Encephalopathy 28NG_011698.1:g.330216G>A; NM_016373.4:c.606-1G>A; NP_057457.1:p.?730882215183303
NM_130791.4:c.544A>GLebanonchr16:78278630Likely BenignUncertain SignificanceBreast CancerNG_011698.1:g.183977A>G; NM_130791.4:c.544A>G; NP_570607.1:p.Lys182Glu77067228518261

Other Reports

Saudi Arabia

Gribaa et al. (2007) described four Saudi siblings suffering from psychomotor retardation and epilepsy.  Parents were consanguineous and had three other healthy children.  Gribaa et al., (2007) used linkage analysis in this family to identify a new locus on 16q21-23 for this condition.  All four affected patients were homozygous for least 18 consecutive markers and their healthy siblings were heterozygous.  Logarithm of Odds (LOD) score was 3.3 in favor of linkage.  The interval on chromosome 16 was found to contain 183 candidate genes.  

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