• Gene id: 51741

Gene Summary

• Gene Symbol: WWOX   Gene   UCSC   Ensembl
• Aliases: D16S432E, EIEE28, FOR, FRA16D, HHCMA56, PRO0128, SCAR12, SDR41C1, WOX1
• Gene name: WW domain containing oxidoreductase
• Alternate names: WW domain-containing oxidoreductase, WW domain-containing protein WWOX, fragile site FRA16D oxidoreductase, short chain dehydrogenase/reductase family 41C member 1,
• Gene location: 16q23.1-q23.2 (78099653: 79212666)     Exons: 10     NC_000016.10
• Gene summary(Entrez): 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 induc
• OMIM: 609751

Protein Summary

• Protein general information: Q9NZC7  
  • Name: WW domain containing oxidoreductase (EC 1.1.1. ) (Fragile site FRA16D oxidoreductase) (Short chain dehydrogenase/reductase family 41C member 1)
  • Length: 414  
  • Mass: 46677
  • Tissue specificity: Widely expressed. Strongly expressed in testis, prostate, and ovary. Overexpressed in cancer cell lines. Isoform 5 and isoform 6 may only be expressed in tumor cell lines. {ECO
• Sequence:

  MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFF
  VDHINKRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAH
  VILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGL
  ETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCN
  ILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMY
  FNNCCRCMPSPEAQSEETARTLWALSERLIQERLGSQSG

• Structural information:
  • Protein Domains: (16..4-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (57..9-)
    (/note="WW-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224"-)
  • Interpro: IPR036291  IPR002347  IPR001202  IPR036020  IPR042732  
  • Prosite: PS01159 PS50020
  • CDD: cd09809 cd00201
  • PDB: 1WMV
  • PDBsum: 1WMV
  • STRING: ENSP00000457230
• Other Databases: GeneCards:  WWOX  Malacards:  WWOX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030178	negative regulation of Wnt signaling pathway	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001241	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IEA	biological process
GO:0090575	RNA polymerase II transcription regulator complex	IEA	cellular component
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0097191	extrinsic apoptotic signaling pathway	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0003713	transcription coactivator activity	ISS	contributes to
GO:0090575	RNA polymerase II transcription regulator complex	ISS	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005902	microvillus	IDA	colocalizes with
GO:0071560	cellular response to transforming growth factor beta stimulus	IDA	biological process
GO:0048705	skeletal system morphogenesis	ISS	biological process
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0005739	mitochondrion	ISS	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0016491	oxidoreductase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Early infantile epileptic encephalopathy	KEGG:H00606
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Squamous cell carcinoma	PMID:11956080
Esophagus squamous cell carcinoma	PMID:11956080
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray