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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
  • WW Domain-Containing Oxidoreductase 2 3
  • Fragile Site FRA16D Oxidoreductase 3 4
  • SDR41C1 3 4
  • WOX1 3 4
  • FOR 3 4
  • Short Chain Dehydrogenase/Reductase Family 41C, Member 1 2
  • WW Domain-Containing Protein WWOX 3
  • EC 1.1.1.- 4
  • D16S432E 3
  • EC 1.1.1 61
  • 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 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors and Gene Expression. GO annotations related to this gene include enzyme binding and protein dimerization activity. An important paralog of this gene is RDH12.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F078127 0.7 Ensembl 17.8 +27.7 27689 0.2 FEZF1 WT1 WWOX GC16P078130 PIR49330 ENSG00000276007
GH16F078133 0.5 ENCODE 17.5 +34.7 34704 1.2 ATF1 MLX ARID4B ZNF48 RAD21 RARA YY1 SLC30A9 FOS CREM WWOX PIR49330 GC16P078130 ENSG00000279991
GH16F077966 0.2 ENCODE 14.9 -132.0 -131976 3.4 PKNOX1 GLI4 FEZF1 RAD21 YY1 HSF1 ZNF143 THAP11 MIXL1 ZNF263 CLEC3A WWOX NUDT7 VAT1L LOC105371351
GH16F078072 0.2 ENCODE 11.9 -26.8 -26835 0.2 ESRRA DPF2 ETS1 ZNF217 E2F1 GATA3 CTBP1 POLR2A BCL11A POU5F1 WWOX CLEC3A ENSG00000261540
GH16F078122 0.6 ENCODE 11.6 +23.6 23585 1.2 CTCF SAP130 ZNF384 CEBPG ZNF2 RAD21 ZFHX2 ZBTB48 ZNF366 SMC3 WWOX ENSG00000276007 GC16M078111
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000053420 287 1801 PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for WWOX Gene

Chromosome:
16
Start:
78,099,413 bp from pter
End:
79,212,667 bp from pter
Size:
1,113,255 bases
Orientation:
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:
    Q9NZC7-WWOX_HUMAN
    Recommended name:
    WW domain-containing oxidoreductase
    Protein Accession:
    Q9NZC7
    Secondary Accessions:
    • A8K323
    • Q5MYT5
    • Q96KM3
    • Q96RF2
    • Q9BTT8
    • Q9NPC9
    • Q9NRF4
    • Q9NRF5
    • Q9NRF6
    • Q9NRK1
    • Q9NZC5

    Protein attributes for WWOX Gene

    Size:
    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.
    SequenceCaution:
    • 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

Selected DME Specific Peptides for WWOX Gene

Q9NZC7:
  • TKDGWVYYANH
  • TFQVNHLGHFYLVQLL
  • GGMYFNNC
  • FVDHINKRTTYLDPRLAFTV
  • LARPFTKSMQQGAATTVYCA
  • LVQLLQDVL
  • VVSSESHRFT
  • DGLETTFQV
  • DTDSEDELPPGWEER

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

Q9NZC7

UniProtKB/Swiss-Prot:

WWOX_HUMAN :
  • The WW 1 domain mediates interaction with TP53, and probably TP73, TFAP2C, LITAF and WBP1.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Domain:
  • The WW 1 domain mediates interaction with TP53, and probably TP73, TFAP2C, LITAF and WBP1.
  • Contains 2 WW domains.
Family:
  • 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:0001105 contributes_to RNA polymerase II transcription coactivator activity ISS 19366691
GO:0005515 protein binding IPI 15064722
GO:0016491 oxidoreductase activity 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

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
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:0005737 cytoplasm TAS 10786676
GO:0005739 mitochondrion IEA,ISS --
GO:0005794 Golgi apparatus IEA,IDA 15064722
GO:0005829 cytosol TAS --
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

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:0001649 osteoblast differentiation IEA --
GO:0006915 apoptotic process IEA --
GO:0008202 steroid metabolic process TAS 10786676
GO:0016055 Wnt signaling pathway IEA --
GO:0030178 negative regulation of Wnt signaling pathway IDA 19465938
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:

Inhibitory RNA Products

Flow Cytometry Products

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: - - - - - - -
SP2:
SP3: - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5:

Relevant External Links for WWOX Gene

GeneLoc Exon Structure for
WWOX
ECgene alternative splicing isoforms for
WWOX

Expression for WWOX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for WWOX Gene



NURSA nuclear receptor signaling pathways regulating expression of WWOX Gene:

WWOX

SOURCE GeneReport for Unigene cluster for WWOX Gene:

Hs.461453

mRNA Expression by UniProt/SwissProt for WWOX Gene:

Q9NZC7-WWOX_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia WWOX 34 35
  • 99.11 (n)
oppossum
(Monodelphis domestica)
Mammalia WWOX 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WWOX 34 35
  • 90.18 (n)
rat
(Rattus norvegicus)
Mammalia Wwox 34
  • 86.84 (n)
cow
(Bos Taurus)
Mammalia WWOX 34 35
  • 86.45 (n)
mouse
(Mus musculus)
Mammalia Wwox 34 16 35
  • 85.79 (n)
chicken
(Gallus gallus)
Aves WWOX 34 35
  • 77.81 (n)
lizard
(Anolis carolinensis)
Reptilia WWOX 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10060 34
zebrafish
(Danio rerio)
Actinopterygii wwox 34 35
  • 70.45 (n)
zgc55975 34
fruit fly
(Drosophila melanogaster)
Insecta Wwox 34 35
  • 55.27 (n)
CG7221 36
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008423 34
  • 54.95 (n)
worm
(Caenorhabditis elegans)
Secernentea K10H10.6 36 34 35
  • 44.48 (n)
DC2.5 36 35
  • 36 (a)
E04F6.15 36 35
  • 36 (a)
F32A5.8 36 35
  • 34 (a)
dhs-7 35
  • 33 (a)
OneToMany
dhs-8 35
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENV9 35
  • 25 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os04g0291100 34
  • 45.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8800 35
  • 54 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11763 34
Species where no ortholog for WWOX was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for WWOX (if available)
TreeFam:
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
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, other 78,115,103(+) AGGGC(C/T)GGGAT nc-transcript-variant, reference, missense
rs587777127 Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322], Pathogenic 79,211,665(+) GTCTG(C/G)GAGGG nc-transcript-variant, reference, missense, utr-variant-3-prime
rs587777128 Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322], Pathogenic 78,108,454(+) AACAT(A/C)CAAAA intron-variant, nc-transcript-variant, reference, missense
rs730880292 Epileptic encephalopathy, early infantile, 28 (EIEE28) [MIM:616211], Pathogenic 78,108,455(+) ACATC(C/G)AAAAA intron-variant, nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1370n106 CNV deletion 24896259
dgv1371n106 CNV deletion 24896259
dgv26e213 CNV loss 24956385
dgv3031n100 CNV gain 25217958
dgv3033n100 CNV loss 25217958
dgv3034n100 CNV gain 25217958
dgv3035n100 CNV loss 25217958
dgv3036n100 CNV gain 25217958
dgv3037n100 CNV loss 25217958
dgv3038n100 CNV gain 25217958
dgv3039n100 CNV loss 25217958
dgv3040n100 CNV gain 25217958
dgv493n67 CNV loss 20364138
dgv494n67 CNV gain 20364138
dgv508e199 CNV deletion 23128226
dgv509e199 CNV deletion 23128226
dgv5217n54 CNV loss 21841781
dgv5218n54 CNV gain 21841781
dgv5219n54 CNV loss 21841781
dgv5220n54 CNV gain+loss 21841781
dgv5221n54 CNV gain 21841781
dgv5222n54 CNV gain 21841781
dgv5223n54 CNV loss 21841781
dgv5224n54 CNV gain 21841781
dgv5225n54 CNV loss 21841781
dgv5226n54 CNV loss 21841781
dgv5227n54 CNV loss 21841781
dgv5228n54 CNV loss 21841781
dgv5229n54 CNV loss 21841781
dgv5230n54 CNV loss 21841781
dgv5231n54 CNV loss 21841781
dgv5232n54 CNV gain 21841781
dgv5233n54 CNV loss 21841781
dgv5234n54 CNV loss 21841781
dgv5235n54 CNV loss 21841781
dgv5236n54 CNV loss 21841781
dgv539e214 CNV loss 21293372
dgv61e180 CNV gain 20482838
dgv859e212 CNV gain 25503493
dgv860e212 CNV gain 25503493
dgv861e212 CNV loss 25503493
dgv862e212 CNV loss 25503493
dgv863e212 CNV loss 25503493
dgv864e212 CNV loss 25503493
esv1604147 CNV deletion 17803354
esv2044269 CNV deletion 18987734
esv2076042 CNV deletion 18987734
esv21884 CNV loss 19812545
esv22307 CNV gain+loss 19812545
esv22641 CNV loss 19812545
esv23645 CNV loss 19812545
esv2421992 CNV deletion 20811451
esv24596 CNV gain 19812545
esv2484984 CNV loss 19546169
esv2500903 CNV insertion 19546169
esv2570625 CNV deletion 19546169
esv25849 CNV loss 19812545
esv26564 CNV loss 19812545
esv2656951 CNV deletion 23128226
esv2657609 CNV deletion 23128226
esv2659386 CNV deletion 23128226
esv2659446 CNV deletion 23128226
esv2660109 CNV deletion 23128226
esv2662103 CNV deletion 23128226
esv2664812 CNV deletion 23128226
esv2665239 CNV deletion 23128226
esv2666451 CNV deletion 23128226
esv2674405 CNV deletion 23128226
esv2674827 CNV deletion 23128226
esv2714747 CNV deletion 23290073
esv2714748 CNV deletion 23290073
esv2714749 CNV deletion 23290073
esv2714750 CNV deletion 23290073
esv2714752 CNV deletion 23290073
esv2714753 CNV deletion 23290073
esv2714754 CNV deletion 23290073
esv2714755 CNV deletion 23290073
esv2714756 CNV deletion 23290073
esv2758660 CNV loss 17122850
esv2758661 CNV loss 17122850
esv2760418 CNV gain+loss 21179565
esv2760432 CNV loss 21179565
esv2761919 CNV loss 21179565
esv2761920 CNV loss 21179565
esv2762065 CNV loss 21179565
esv2762165 CNV gain+loss 21179565
esv32565 CNV loss 17666407
esv32778 CNV gain+loss 17666407
esv3385106 CNV insertion 20981092
esv34040 CNV loss 18971310
esv34093 CNV loss 18971310
esv34199 CNV loss 17911159
esv3553712 CNV deletion 23714750
esv3553713 CNV deletion 23714750
esv3553714 CNV deletion 23714750
esv3553716 CNV deletion 23714750
esv3553720 CNV deletion 23714750
esv3553723 CNV deletion 23714750
esv3553725 CNV deletion 23714750
esv3571864 CNV gain 25503493
esv3572009 CNV gain 25503493
esv3572131 CNV gain 25503493
esv3572197 CNV gain 25503493
esv3582340 CNV loss 25503493
esv3582356 CNV loss 25503493
esv3582362 CNV loss 25503493
esv3582363 CNV loss 25503493
esv3582364 CNV loss 25503493
esv3582365 CNV loss 25503493
esv3639193 CNV loss 21293372
esv3639194 CNV loss 21293372
esv3639195 CNV loss 21293372
esv3639196 CNV loss 21293372
esv3639197 CNV loss 21293372
esv3639199 CNV loss 21293372
esv3639201 CNV loss 21293372
esv3639202 CNV loss 21293372
esv3639203 CNV loss 21293372
esv3639204 CNV loss 21293372
esv3639205 CNV loss 21293372
esv3639206 CNV loss 21293372
esv3639208 CNV loss 21293372
esv3639209 CNV gain 21293372
esv3639210 CNV loss 21293372
esv3639211 CNV loss 21293372
esv3639212 CNV loss 21293372
esv3639213 CNV loss 21293372
esv3639215 CNV loss 21293372
esv3639216 CNV loss 21293372
esv3639217 CNV loss 21293372
esv3639218 CNV gain 21293372
esv3639219 CNV loss 21293372
esv3639220 CNV gain 21293372
esv3639222 CNV loss 21293372
esv3639224 CNV loss 21293372
esv3639225 CNV loss 21293372
esv3639226 CNV loss 21293372
esv3639227 CNV loss 21293372
esv3639228 CNV loss 21293372
esv3639229 CNV loss 21293372
esv3639230 CNV loss 21293372
esv3639231 CNV loss 21293372
esv3639232 CNV loss 21293372
esv3639234 CNV loss 21293372
esv3639235 CNV loss 21293372
esv3639236 CNV loss 21293372
esv3639237 CNV loss 21293372
esv3639239 CNV gain 21293372
esv3639240 CNV loss 21293372
esv3892899 CNV loss 25118596
esv3892900 CNV loss 25118596
esv3892902 CNV gain 25118596
esv3892903 CNV gain 25118596
esv3892905 CNV loss 25118596
esv3892906 CNV loss 25118596
esv3892907 CNV loss 25118596
esv3892908 CNV gain 25118596
esv9270 CNV gain 19470904
esv988047 CNV insertion 20482838
esv999114 CNV loss 20482838
nsv103172 CNV deletion 16902084
nsv1055778 CNV loss 25217958
nsv1055795 CNV loss 25217958
nsv1056016 CNV loss 25217958
nsv1056691 CNV loss 25217958
nsv1056781 CNV loss 25217958
nsv1057053 CNV loss 25217958
nsv1057997 CNV loss 25217958
nsv1058274 CNV gain+loss 25217958
nsv1058460 CNV loss 25217958
nsv1058620 CNV gain 25217958
nsv1058702 CNV loss 25217958
nsv1059174 CNV loss 25217958
nsv1060115 CNV gain 25217958
nsv1060491 CNV loss 25217958
nsv1060768 CNV loss 25217958
nsv1061838 CNV loss 25217958
nsv1062331 CNV loss 25217958
nsv1063120 CNV loss 25217958
nsv1063427 CNV gain 25217958
nsv1064596 CNV loss 25217958
nsv1065018 CNV loss 25217958
nsv1065397 CNV loss 25217958
nsv1065496 CNV gain 25217958
nsv1065620 CNV loss 25217958
nsv1065743 CNV gain 25217958
nsv1066035 CNV loss 25217958
nsv1067323 CNV loss 25217958
nsv1070358 CNV deletion 25765185
nsv1116161 CNV deletion 24896259
nsv1116162 CNV deletion 24896259
nsv1116163 CNV deletion 24896259
nsv1123068 CNV deletion 24896259
nsv1138465 CNV deletion 24896259
nsv1138466 CNV deletion 24896259
nsv1142884 CNV tandem duplication 24896259
nsv1148329 CNV insertion 26484159
nsv1160439 OTHER complex 26073780
nsv1160440 CNV duplication 26073780
nsv150 CNV deletion 15895083
nsv1889 CNV deletion 18451855
nsv1890 CNV insertion 18451855
nsv1891 CNV insertion 18451855
nsv1892 CNV deletion 18451855
nsv436215 CNV deletion 17901297
nsv442404 CNV loss 18776908
nsv442730 CNV loss 18776908
nsv442731 CNV loss 18776908
nsv457544 CNV loss 19166990
nsv457545 CNV loss 19166990
nsv457547 CNV loss 19166990
nsv457548 CNV loss 19166990
nsv457549 CNV gain 19166990
nsv457550 CNV loss 19166990
nsv457553 CNV loss 19166990
nsv471099 CNV loss 18288195
nsv472877 CNV novel sequence insertion 20440878
nsv473114 CNV novel sequence insertion 20440878
nsv473724 CNV novel sequence insertion 20440878
nsv474224 CNV novel sequence insertion 20440878
nsv474753 CNV novel sequence insertion 20440878
nsv474939 CNV novel sequence insertion 20440878
nsv475057 CNV novel sequence insertion 20440878
nsv475558 CNV novel sequence insertion 20440878
nsv475960 CNV novel sequence insertion 20440878
nsv498865 CNV loss 21111241
nsv507827 OTHER sequence alteration 20534489
nsv510423 OTHER sequence alteration 20534489
nsv510424 OTHER sequence alteration 20534489
nsv511576 CNV loss 21212237
nsv512448 CNV loss 21212237
nsv514817 CNV loss 21397061
nsv514818 CNV loss 21397061
nsv515915 CNV loss 19592680
nsv516971 CNV gain+loss 19592680
nsv518429 CNV gain 19592680
nsv518922 CNV loss 19592680
nsv518949 CNV loss 19592680
nsv520056 CNV loss 19592680
nsv520408 CNV loss 19592680
nsv521493 CNV gain 19592680
nsv523542 CNV loss 19592680
nsv524805 CNV loss 19592680
nsv526802 CNV loss 19592680
nsv526983 CNV loss 19592680
nsv527702 CNV loss 19592680
nsv573133 CNV gain 21841781
nsv573134 CNV loss 21841781
nsv573135 CNV loss 21841781
nsv573138 CNV loss 21841781
nsv573140 CNV loss 21841781
nsv573141 CNV loss 21841781
nsv573142 CNV loss 21841781
nsv573143 CNV loss 21841781
nsv573144 CNV gain 21841781
nsv573145 CNV loss 21841781
nsv573146 CNV loss 21841781
nsv573148 CNV loss 21841781
nsv573229 CNV loss 21841781
nsv573236 CNV loss 21841781
nsv573249 CNV gain 21841781
nsv573252 CNV loss 21841781
nsv573253 CNV gain+loss 21841781
nsv573254 CNV gain 21841781
nsv573257 CNV loss 21841781
nsv573258 CNV loss 21841781
nsv573259 CNV loss 21841781
nsv573260 CNV loss 21841781
nsv573261 CNV loss 21841781
nsv573262 CNV loss 21841781
nsv573263 CNV loss 21841781
nsv573264 CNV gain 21841781
nsv573265 CNV loss 21841781
nsv573266 CNV loss 21841781
nsv573269 CNV loss 21841781
nsv573279 CNV gain 21841781
nsv573280 CNV loss 21841781
nsv573281 CNV loss 21841781
nsv573282 CNV loss 21841781
nsv573283 CNV loss 21841781
nsv573284 CNV loss 21841781
nsv573285 CNV gain 21841781
nsv573286 CNV loss 21841781
nsv573287 CNV loss 21841781
nsv817743 CNV loss 17921354
nsv820088 CNV gain 19587683
nsv820565 CNV deletion 20802225
nsv827761 CNV gain 20364138
nsv827765 CNV loss 20364138
nsv827766 CNV loss 20364138
nsv827767 CNV gain 20364138
nsv833293 CNV gain 17160897
nsv9463 CNV gain+loss 18304495
nsv952056 CNV deletion 24416366
nsv962219 CNV deletion 23825009
nsv978004 CNV duplication 23825009

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)
WWOX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WWOX

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

Disorders for WWOX Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 12
  • spinocrebellar ataxia, autosomal recessive 12
epileptic encephalopathy, early infantile, 28
  • eiee28
esophageal cancer
  • esophageal cancer, somatic
46,xy partial gonadal dysgenesis
  • 46,xy pgd
epileptic encephalopathy, early infantile, 1
  • eiee1
- elite association - COSMIC cancer census association via MalaCards
Search WWOX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WWOX_HUMAN
  • 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)
WWOX
Human Genome Epidemiology (HuGE) Navigator
WWOX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WWOX
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 22 64
  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 4 22 64
  3. WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels. (PMID: 18674750) Lee J.C. … Pajukanta P. (Am. J. Hum. Genet. 2008) 3 22 46 64
  4. WW domain-containing proteins, WWOX and YAP, compete for interaction with ErbB-4 and modulate its transcriptional function. (PMID: 16061658) Aqeilan R.I. … Croce C.M. (Cancer Res. 2005) 3 4 22 64
  5. Activated tyrosine kinase Ack1 promotes prostate tumorigenesis: role of Ack1 in polyubiquitination of tumor suppressor Wwox. (PMID: 16288044) Mahajan N.P. … Earp H.S. (Cancer Res. 2005) 3 4 22 64

Products for WWOX Gene

Sources for WWOX Gene

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