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Aliases for WWOX Gene

Aliases for WWOX Gene

  • WW Domain Containing Oxidoreductase 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 41C Member 1 3 4
  • Fragile Site FRA16D Oxidoreductase 3 4
  • SDR41C1 3 4
  • WOX1 3 4
  • FOR 3 4
  • Short Chain Dehydrogenase/Reductase Family 41C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 41C 2
  • WW Domain-Containing Oxidoreductase 2
  • WW Domain-Containing Protein WWOX 3
  • EC 1.1.1.- 4
  • Member 1 2
  • D16S432E 3
  • EC 1.1.1 63
  • HHCMA56 3
  • PRO0128 3
  • EIEE28 3
  • FRA16D 3
  • SCAR12 3

External Ids for WWOX Gene

Previous GeneCards Identifiers for WWOX Gene

  • GC16P069063
  • GC16P079094
  • GC16P077872
  • GC16P077913
  • GC16P076691
  • GC16P078133
  • GC16P063889

Summaries for WWOX Gene

Entrez Gene Summary for WWOX Gene

  • 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]

GeneCards Summary for WWOX Gene

WWOX (WW Domain Containing Oxidoreductase) is a Protein Coding gene. Diseases associated with WWOX include Spinocerebellar Ataxia, Autosomal Recessive 12 and Epileptic Encephalopathy, Early Infantile, 28. Among its related pathways are DNA Damage and Nuclear signaling by ERBB4. GO annotations related to this gene include enzyme binding and protein dimerization activity. An important paralog of this gene is RDH14.

UniProtKB/Swiss-Prot for WWOX Gene

  • 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.

Gene Wiki entry for WWOX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WWOX Gene

Genomics for WWOX Gene

Regulatory Elements for WWOX Gene

Enhancers for WWOX Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around WWOX on UCSC Golden Path with GeneCards custom track

Promoters for WWOX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WWOX on UCSC Golden Path with GeneCards custom track

Genomic Location for WWOX Gene

78,099,413 bp from pter
79,212,667 bp from pter
1,113,255 bases
Plus strand

Genomic View for WWOX Gene

Genes around WWOX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WWOX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WWOX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WWOX Gene

Proteins for WWOX Gene

  • Protein details for WWOX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    WW domain-containing oxidoreductase
    Protein Accession:
    Secondary Accessions:
    • A8K323
    • Q5MYT5
    • Q96KM3
    • Q96RF2
    • Q9BTT8
    • Q9NPC9
    • Q9NRF4
    • Q9NRF5
    • Q9NRF6
    • Q9NRK1
    • Q9NZC5

    Protein attributes for WWOX Gene

    414 amino acids
    Molecular mass:
    46677 Da
    Quaternary structure:
    • Interacts with TP53, p73/TP73 and MAPK8. Interacts with MAPT/TAU, RUNX2 and HYAL2 (By similarity). Forms a ternary complex with TP53 and MDM2. Interacts with ERBB4, LITAF and WBP1. Interacts with DVL1, DVL2 and DVL3. May interact with FAM189B and SCOTIN. Interacts with TNK2. Interacts with TMEM207.
    • Sequence=AAP94227.1; Type=Frameshift; Positions=362; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WWOX Gene

    Alternative splice isoforms for WWOX Gene

neXtProt entry for WWOX Gene

Proteomics data for WWOX Gene at MOPED

Post-translational modifications for WWOX Gene

  • Phosphorylated upon genotoxic stress. Phosphorylation of Tyr-33 regulates interaction with TP53, TP73 and MAPK8. May also regulate proapoptotic activity. Phosphorylation by TNK2 is associated with polyubiquitination and degradation.
  • Ubiquitinated when phosphorylated by TNK2, leading to its degradation.
  • Ubiquitination at Lys 100 and Lys 274
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for WWOX (WWOX)

Domains & Families for WWOX Gene

Gene Families for WWOX Gene

Suggested Antigen Peptide Sequences for WWOX Gene

Graphical View of Domain Structure for InterPro Entry



  • The WW 1 domain mediates interaction with TP53, and probably TP73, TFAP2C, LITAF and WBP1.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
  • The WW 1 domain mediates interaction with TP53, and probably TP73, TFAP2C, LITAF and WBP1.
  • Contains 2 WW domains.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with WWOX: view

Function for WWOX Gene

Molecular function for WWOX Gene

UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for WWOX Gene

Gene Ontology (GO) - Molecular Function for WWOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 15064722
GO:0016491 oxidoreductase activity IEA,TAS 10786676
GO:0019899 enzyme binding IPI 19366691
GO:0046983 protein dimerization activity TAS 10786676
genes like me logo Genes that share ontologies with WWOX: view
genes like me logo Genes that share phenotypes with WWOX: view

Human Phenotype Ontology for WWOX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WWOX Gene

MGI Knock Outs for WWOX:

Animal Model Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for WWOX Gene

Localization for WWOX Gene

Subcellular locations from UniProtKB/Swiss-Prot for WWOX Gene

Cytoplasm. Nucleus. Mitochondrion. Golgi apparatus. Note=Partially localizes to the mitochondria (PubMed:14695174). Translocates to the nucleus upon genotoxic stress or TNF stimulation (By similarity). Translocates to the nucleus in response to TGFB1 (PubMed:19366691). Isoform 5 and isoform 6 may localize in the nucleus. {ECO:0000250, ECO:0000269 PubMed:14695174, ECO:0000269 PubMed:19366691}.

Subcellular locations from

Jensen Localization Image for WWOX Gene COMPARTMENTS Subcellular localization image for WWOX gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 5
mitochondrion 4
cytoskeleton 2
extracellular 2
plasma membrane 2
vacuole 1

Gene Ontology (GO) - Cellular Components for WWOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19366691
GO:0005739 mitochondrion ISS --
GO:0005886 colocalizes_with plasma membrane IDA 19366691
GO:0090575 RNA polymerase II transcription factor complex ISS 19366691
genes like me logo Genes that share ontologies with WWOX: view

Pathways & Interactions for WWOX Gene

genes like me logo Genes that share pathways with WWOX: view

Pathways by source for WWOX Gene

2 Cell Signaling Technology pathways for WWOX Gene
1 BioSystems pathway for WWOX Gene

SIGNOR curated interactions for WWOX Gene

Is activated by:

Gene Ontology (GO) - Biological Process for WWOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0030178 negative regulation of Wnt signaling pathway IDA 19465938
GO:0045944 positive regulation of transcription from RNA polymerase II promoter ISS --
GO:0048705 skeletal system morphogenesis ISS --
genes like me logo Genes that share ontologies with WWOX: view

Drugs & Compounds for WWOX Gene

(2) Drugs for WWOX Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for WWOX Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with WWOX: view

Transcripts for WWOX Gene

Unigene Clusters for WWOX Gene

WW domain containing oxidoreductase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WWOX Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - - -

Relevant External Links for WWOX Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for WWOX Gene

mRNA expression in normal human tissues for WWOX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WWOX Gene

This gene is overexpressed in Pancreatic juice (34.3), Salivary gland (10.7), Fetal Brain (9.1), and Retina (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for WWOX Gene

SOURCE GeneReport for Unigene cluster for WWOX Gene Hs.461453

mRNA Expression by UniProt/SwissProt for WWOX Gene

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.
genes like me logo Genes that share expression patterns with WWOX: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for WWOX Gene

Orthologs for WWOX Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WWOX Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia WWOX 35
  • 86.45 (n)
  • 93.35 (a)
  • 92 (a)
(Canis familiaris)
Mammalia WWOX 35
  • 90.18 (n)
  • 94.44 (a)
  • 86 (a)
(Mus musculus)
Mammalia Wwox 35
  • 85.79 (n)
  • 93.95 (a)
Wwox 16
Wwox 36
  • 94 (a)
(Pan troglodytes)
Mammalia WWOX 35
  • 99.11 (n)
  • 98.79 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Wwox 35
  • 86.84 (n)
  • 94.89 (a)
(Monodelphis domestica)
Mammalia WWOX 36
  • 91 (a)
(Gallus gallus)
Aves WWOX 35
  • 77.81 (n)
  • 83.16 (a)
  • 83 (a)
(Anolis carolinensis)
Reptilia WWOX 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10060 35
(Danio rerio)
Actinopterygii wwox 35
  • 70.45 (n)
  • 73.33 (a)
zgc55975 35
wwox 36
  • 68 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7221 37
  • 49 (a)
Wwox 35
  • 55.27 (n)
  • 50.63 (a)
Wwox 36
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008423 35
  • 54.95 (n)
  • 50.12 (a)
(Caenorhabditis elegans)
Secernentea DC2.5 37
  • 36 (a)
E04F6.15 37
  • 36 (a)
F32A5.8 37
  • 34 (a)
K10H10.6 37
  • 36 (a)
K10H10.6 35
  • 44.48 (n)
  • 37.79 (a)
DC2.5 36
  • 33 (a)
dhs-7 36
  • 33 (a)
dhs-8 36
  • 30 (a)
E04F6.15 36
  • 34 (a)
F32A5.8 36
  • 32 (a)
K10H10.6 36
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENV9 36
  • 25 (a)
(Oryza sativa)
Liliopsida Os04g0291100 35
  • 45.92 (n)
  • 42.31 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11763 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8800 36
  • 54 (a)
Species with no ortholog for WWOX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WWOX Gene

Gene Tree for WWOX (if available)
Gene Tree for WWOX (if available)

Paralogs for WWOX Gene

Paralogs for WWOX Gene

(6) SIMAP similar genes for WWOX Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with WWOX: view

Variants for WWOX Gene

Sequence variations from dbSNP and Humsavar for WWOX Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs144601717 - 78,115,038(+) TAATC(C/T)GACCA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs114755364 A Burkitt lymphoma cell line 78,115,077(+) CAGCA(C/G)CACTG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs141361080 A primary colorectal tumor 78,115,103(+) AGGGC(C/T)GGGAT nc-transcript-variant, reference, missense
VAR_023919 -
VAR_023920 -

Structural Variations from Database of Genomic Variants (DGV) for WWOX Gene

Variant ID Type Subtype PubMed ID
nsv906962 CNV Gain 21882294
dgv2919n71 CNV Gain 21882294
nsv833293 CNV Gain 17160897
nsv906968 CNV Gain 21882294
nsv520408 CNV Loss 19592680
esv26564 CNV Loss 19812545
esv2657609 CNV Deletion 23128226
esv2714747 CNV Deletion 23290073
dgv2921n71 CNV Loss 21882294
esv2674827 CNV Deletion 23128226
nsv817743 CNV Loss 17921354
esv2665239 CNV Deletion 23128226
esv2500903 CNV Insertion 19546169
esv988047 CNV Insertion 20482838
nsv457544 CNV Loss 19166990
dgv905e1 CNV Complex 17122850
nsv518922 CNV Loss 19592680
dgv906e1 CNV Complex 17122850
nsv526983 CNV Loss 19592680
esv2659386 CNV Deletion 23128226
nsv521493 CNV Gain 19592680
esv2662103 CNV Deletion 23128226
nsv906971 CNV Loss 21882294
nsv906972 CNV Loss 21882294
esv2714748 CNV Deletion 23290073
esv2714749 CNV Deletion 23290073
esv2714750 CNV Deletion 23290073
nsv507827 CNV Insertion 20534489
nsv150 CNV Loss 15895083
nsv1889 CNV Loss 18451855
esv2484984 CNV Loss 19546169
nsv906973 CNV Loss 21882294
nsv820088 CNV Gain 19587683
nsv9463 CNV Gain+Loss 18304495
esv2570625 CNV Deletion 19546169
nsv436215 CNV Deletion 17901297
esv2076042 CNV Deletion 18987734
dgv493n67 CNV Loss 20364138
nsv820565 CNV Deletion 20802225
dgv508e199 CNV Deletion 23128226
dgv61e180 CNV Gain 20482838
esv22307 CNV Gain+Loss 19812545
nsv498865 CNV Loss 21111241
esv2714752 CNV Deletion 23290073
esv32778 CNV Gain+Loss 17666407
nsv514817 CNV Loss 21397061
nsv827761 CNV Gain 20364138
essv11375 CNV CNV 17122850
nsv442730 CNV CNV 18776908
dgv494n67 CNV Gain 20364138
esv32565 CNV Loss 17666407
esv2044269 CNV Deletion 18987734
esv2714753 CNV Deletion 23290073
esv1604147 CNV Deletion 17803354
nsv457545 CNV Loss 19166990
nsv510423 CNV Loss 20534489
nsv1890 CNV Insertion 18451855
nsv906974 CNV Loss 21882294
nsv906975 CNV Loss 21882294
esv24596 CNV Gain 19812545
nsv906976 CNV Gain 21882294
nsv103172 CNV Loss 16902084
nsv1891 CNV Insertion 18451855
nsv906977 CNV Loss 21882294
nsv471099 CNV Loss 18288195
dgv2922n71 CNV Loss 21882294
nsv510424 CNV Loss 20534489
nsv457547 CNV Loss 19166990
nsv457548 CNV Loss 19166990
esv2664812 CNV Deletion 23128226
nsv906981 CNV Gain 21882294
esv2714754 CNV Deletion 23290073
esv2659446 CNV Deletion 23128226
esv2714755 CNV Deletion 23290073
nsv442404 CNV CNV 18776908
nsv827765 CNV Loss 20364138
nsv524805 CNV Loss 19592680
nsv906982 CNV Gain 21882294
nsv515915 CNV Loss 19592680
dgv2923n71 CNV Loss 21882294
dgv2924n71 CNV Loss 21882294
esv34093 CNV Loss 18971310
nsv511576 CNV Loss 21212237
nsv512448 CNV Loss 21212237
nsv827766 CNV Loss 20364138
esv2714756 CNV Deletion 23290073
dgv509e199 CNV Deletion 23128226
esv21884 CNV Loss 19812545
nsv457549 CNV Gain 19166990
nsv520056 CNV Loss 19592680
nsv906987 CNV Loss 21882294
esv2674405 CNV Deletion 23128226
nsv527702 CNV Loss 19592680
nsv457550 CNV Loss 19166990
esv22641 CNV Loss 19812545
nsv906988 CNV Loss 21882294
esv34040 CNV Loss 18971310
nsv906989 CNV Gain 21882294
esv2660109 CNV Deletion 23128226
esv25849 CNV Loss 19812545
dgv907e1 CNV Complex 17122850
nsv516971 CNV Gain+Loss 19592680
essv13302 CNV CNV 17122850
dgv908e1 CNV Complex 17122850
esv23645 CNV Loss 19812545
esv2666451 CNV Deletion 23128226
nsv442731 CNV CNV 18776908
esv2421992 CNV Deletion 20811451
nsv514818 CNV Loss 21397061
esv34199 CNV Loss 17911159
essv8680 CNV CNV 17122850
essv14812 CNV CNV 17122850
nsv526802 CNV Loss 19592680
nsv1892 CNV Loss 18451855
nsv518429 CNV Gain 19592680
nsv827767 CNV Gain 20364138
nsv457553 CNV Loss 19166990
nsv523542 CNV Loss 19592680
esv9270 CNV Gain 19470904
esv999114 CNV Loss 20482838
nsv518949 CNV Loss 19592680
esv2656951 CNV Deletion 23128226
nsv906990 CNV Gain 21882294

Variation tolerance for WWOX Gene

Residual Variation Intolerance Score: 98.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.60; 95.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WWOX Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WWOX Gene

Disorders for WWOX Gene

MalaCards: The human disease database

(9) MalaCards diseases for WWOX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 12
  • spinocrebellar ataxia, autosomal recessive 12
epileptic encephalopathy, early infantile, 28
  • eiee28
46,xy partial gonadal dysgenesis
  • 46,xy pgd
esophageal cancer
  • esophageal cancer, somatic
undetermined early-onset epileptic encephalopathy
  • undetermined eoee
- elite association - COSMIC cancer census association via MalaCards
Search WWOX in MalaCards View complete list of genes associated with diseases


  • Epileptic encephalopathy, early infantile, 28 (EIEE28) [MIM:616211]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269 PubMed:25411445}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Esophageal cancer (ESCR) [MIM:133239]: A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269 PubMed:11956080}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Note=Defects in WWOX may be involved in several cancer types. The gene spans the second most common chromosomal fragile site (FRA16D) which is frequently altered in cancers (PubMed:10861292). Alteration of the expression and expression of some isoforms is associated with cancers. However, it is still unclear if alteration of WWOX is directly implicated in cancerogenesis or if it corresponds to a secondary effect (PubMed:10861292, PubMed:11572989, PubMed:15266310, PubMed:15073125, PubMed:15131042). {ECO:0000269 PubMed:10861292, ECO:0000269 PubMed:11572989, ECO:0000269 PubMed:15073125, ECO:0000269 PubMed:15131042, ECO:0000269 PubMed:15266310}.
  • Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR12 is additionally characterized by onset of generalized seizures in infancy, and delayed psychomotor development with mental retardation. Some patients may also show spasticity. {ECO:0000269 PubMed:24369382, ECO:0000269 PubMed:24456803}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WWOX

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with WWOX: view

No data available for Genatlas for WWOX Gene

Publications for WWOX Gene

  1. WWOX, a novel WW domain-containing protein mapping to human chromosome 16q23.3-24.1, a region frequently affected in breast cancer. (PMID: 10786676) Bednarek A.K. … Aldaz C.M. (Cancer Res. 2000) 2 3 4 23 67
  2. Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells. (PMID: 10861292) Ried K. … Richards R.I. (Hum. Mol. Genet. 2000) 2 3 23
  3. Study of FHIT and WWOX expression in mucoepidermoid carcinoma and adenoid cystic carcinoma of salivary gland. (PMID: 20060354) Dincer N. … GA1ler G. (Oral Oncol. 2010) 3 23
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  5. Loss of WWOX expression in human extrahepatic cholangiocarcinoma. (PMID: 18629536) Wang M. … Gong B. (J. Cancer Res. Clin. Oncol. 2009) 3 23

Products for WWOX Gene

Sources for WWOX Gene