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
External Ids for WWOX Gene
- HGNC: 12799
- Entrez Gene: 51741
- Ensembl: ENSG00000186153
- OMIM: 605131
- UniProtKB: Q9NZC7
Previous GeneCards Identifiers for WWOX Gene
- GC16P069063
- GC16P079094
- GC16P077872
- GC16P077913
- GC16P076691
- GC16P078133
- GC16P063889
Summaries 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 Signaling by ERBB4 and Apoptosis and Autophagy. 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.
No data available for CIViC summary , 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 |
|---|---|---|---|---|---|---|---|---|
| GH16G078133 | 0.9 | ENCODE | 17.6 | +34.7 | 34704 | 1.2 | FOXA2 ATF1 MLX ARID4B RAD21 ZNF48 RARA YY1 SLC30A9 FOS | WWOX GC16P078130 PIR49330 ENSG00000279991 |
| GH16G077966 | 0.9 | ENCODE | 14.9 | -132.0 | -131976 | 3.4 | PKNOX1 NFIB GLI4 FEZF1 RAD21 YY1 HSF1 ZNF143 THAP11 MIXL1 | CLEC3A WWOX NUDT7 VAT1L LOC105371351 |
| GH16G078065 | 1.1 | FANTOM5 | 10.7 | -33.7 | -33706 | 0.0 | HNRNPUL1 PKNOX1 ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 | WWOX ENSG00000261540 |
| GH16G078122 | 1 | Ensembl ENCODE | 11.6 | +23.6 | 23585 | 1.2 | CTCF SAP130 CEBPG ZNF384 ZNF2 RAD21 YY1 ZFHX2 ZBTB48 ZNF366 | WWOX ENSG00000276007 GC16M078111 |
| GH16G078046 | 1 | ENCODE | 10.8 | -53.3 | -53305 | 0.1 | MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 SLC30A9 ZNF766 GLIS2 ZNF143 | WWOX KRT8P22 CLEC3A |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around WWOX on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the WWOX gene promoter:
Regulatory Element Products
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:
-
- 16q23.1 by Ensembl
- 16q23.1-q23.2 by Entrez Gene
- 16q23.1-q23.2 by HGNC
WWOX Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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 Lys100 and isoforms=2274
- Modification sites at PhosphoSitePlus
Other Protein References for WWOX Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for WWOX (WWOX)
- Cell Signaling Technology (CST) Antibodies for WWOX (WWOX)
-
Custom Antibody ServicesOriGene Antibodies for WWOX
- Novus Biologicals Antibodies for WWOX
- Invitrogen Antibodies for WWOX
- antibodies-online Antibodies for WWOX: See all 86
- GeneTex WWOX antibody for WWOX
-
Santa Cruz Biotechnology (SCBT) Antibodies for WWOX
Protein Products
-
OriGene Purified Proteins for WWOX
- Search Origene for MassSpec and Protein Over-expression Lysates for WWOX
- Origene Custom Protein Services for WWOX
- ProSpec Recombinant Proteins for WWOX
- antibodies-online Proteins for WWOX: See all 19
- Search antibodies-online for peptides
- Search GeneTex for Proteins for WWOX
Assay Products
- antibodies-online Kits for WWOX: See all 8
Domains & Families for WWOX Gene
Gene Families for WWOX Gene
Protein Domains for WWOX Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for WWOX Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NZC7UniProtKB/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.
- Family:
-
- Belongs to the short-chain dehydrogenases/reductases (SDR) family.
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
| 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 |
Phenotypes for WWOX Gene
- MGI mutant phenotypes for WWOX:
-
inferred from 7 alleles
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- skeleton phenotype
- hematopoietic system phenotype
- liver/biliary system phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for WWOX:
-
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- shRNA abundance <= 50%
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability after Maraba virus infection
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance
- Increased cell death HMECs cells
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Negative genetic interaction between BLM-/- and BLM+/+
- Increased cilium length after serum starvation
- Decreased viability with paclitaxel
- Decreased viability with cisplatin
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for WWOX
-
-
ViGene Biosciences lentiviral particle packaged cDNA for WWOX gene
-
ViGene Biosciences ready-to-package AAV shRNAs for WWOX gene
- Search ViGene Biosciences for WWOX
CRISPR Products
-
OriGene CRISPR knockouts for WWOX
-
Santa Cruz Biotechnology (SCBT) CRISPR for WWOX
- GenScript: Design CRISPR guide RNA sequences for WWOX
miRNA Products
- Search ViGene Biosciences for WWOX
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for WWOX
- Browse OriGene Inhibitory RNA Products For WWOX
-
ViGene Biosciences ready-to-package AAV shRNAs for WWOX gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for WWOX
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for WWOX
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for WWOX
-
ViGene Biosciences adenoviral particle packaged cDNA for WWOX gene
-
ViGene Biosciences lentiviral particle packaged cDNA for WWOX gene
-
ViGene Biosciences ready-to-package AAV shRNAs for WWOX gene
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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| mitochondrion | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 19366691 |
| GO:0005737 | cytoplasm | TAS | 10786676 |
| GO:0005739 | mitochondrion | ISS,IEA | -- |
| GO:0005794 | Golgi apparatus | IDA,IEA | 15064722 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for WWOX Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors | ||
| 2 | Signaling by ERBB4 | ||
| 3 | Gene Expression |
.48
|
|
| 4 | Apoptosis and Autophagy | ||
| 5 | DNA Damage | ||
Pathways by source for WWOX Gene
2 Cell Signaling Technology pathways for WWOX Gene
1 BioSystems pathway for WWOX Gene
Interacting Proteins for WWOX Gene
Selected Interacting proteins:
ENSP00000457230
Q9NZC7-WWOX_HUMAN
for WWOX Gene via
STRING
MINT
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | TAS | -- |
| GO:0001649 | osteoblast differentiation | IEA | -- |
| GO:0006366 | transcription from RNA polymerase II promoter | IEA | -- |
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0008202 | steroid metabolic process | TAS | 10786676 |
Transcripts for WWOX Gene
mRNA/cDNA for WWOX Gene
- (14) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (52) Selected AceView cDNA sequences:
- (18) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for WWOX Gene
CRISPR Products
-
OriGene CRISPR knockouts for WWOX
-
Santa Cruz Biotechnology (SCBT) CRISPR for WWOX
- GenScript: Design CRISPR guide RNA sequences for WWOX
miRNA Products
- Search ViGene Biosciences for WWOX
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for WWOX
- Browse OriGene Inhibitory RNA Products For WWOX
-
ViGene Biosciences ready-to-package AAV shRNAs for WWOX gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for WWOX
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for WWOX
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||
| SP5: |
Expression for WWOX Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Blood (Hematopoietic System)
- Mature B-Cells Peripheral Blood
- Hematopoietic Bone Marrow
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:
WWOXSOURCE GeneReport for Unigene cluster for WWOX Gene:
Hs.461453mRNA 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.
Evidence on tissue expression from TISSUES for WWOX Gene
- Lung(4.5)
- Liver(4.4)
- Nervous system(4.1)
- Lymph node(3.6)
- Blood(2.3)
- Skin(2.3)
- Stomach(2.3)
- Thyroid gland(2.1)
- Intestine(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for WWOX Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- face
- forehead
- head
- larynx
- lip
- mouth
- neck
- nose
- pharynx
- pituitary gland
- skull
- vocal cord
Thorax:
- breast
- chest wall
- clavicle
- diaphragm
- esophagus
- lung
- rib
- rib cage
Abdomen:
- abdominal wall
- intestine
- large intestine
- stomach
Pelvis:
- fallopian tube
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- urethra
- uterus
- vagina
- vas deferens
- vulva
Limb:
- arm
- digit
- femur
- fibula
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- radius
- shin
- thigh
- tibia
- toe
- ulna
- upper limb
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for WWOX
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | WWOX 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | WWOX 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | WWOX 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Wwox 34 |
|
||
| cow (Bos Taurus) |
Mammalia | WWOX 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Wwox 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | WWOX 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | WWOX 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.10060 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | wwox 34 35 |
|
||
| zgc55975 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Wwox 34 35 |
|
||
| CG7221 36 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008423 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | K10H10.6 36 34 35 |
|
||
| DC2.5 36 35 |
|
||||
| E04F6.15 36 35 |
|
||||
| F32A5.8 36 35 |
|
||||
| dhs-7 35 |
|
OneToMany | |||
| dhs-8 35 |
|
OneToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ENV9 35 |
|
OneToMany | |
| rice (Oryza sativa) |
Liliopsida | Os04g0291100 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8800 35 |
|
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)
Paralogs for WWOX Gene
Variants 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 | other, A histiocytic lymphoma cell line, A primary colorectal tumor | 78,115,103(+) | AGGGC(C/T)GGGAT | nc-transcript-variant, reference, missense | |
| rs587777127 | Pathogenic, Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322] | 79,211,665(+) | GTCTG(C/G)GAGGG | nc-transcript-variant, reference, missense, utr-variant-3-prime | |
| rs587777128 | Pathogenic, Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322] | 78,108,454(+) | AACAT(A/C)CAAAA | intron-variant, nc-transcript-variant, reference, missense | |
| rs730880292 | Pathogenic, Epileptic encephalopathy, early infantile, 28 (EIEE28) [MIM:616211] | 78,108,455(+) | ACATC(C/G)AAAAA | intron-variant, nc-transcript-variant, reference, missense |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WWOX Gene
Disorders for WWOX Gene
(27) 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 |
|
|
| epileptic encephalopathy, early infantile, 28 |
|
|
| esophageal cancer |
|
|
| epileptic encephalopathy, early infantile, 1 |
|
|
| 46,xy partial gonadal dysgenesis |
|
|
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
No data available for Genatlas for WWOX Gene
Publications for WWOX Gene
- 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
- 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
- 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
- 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
- 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
- R&D Systems Antibodies for WWOX (WWOX)
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for WWOX Gene
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