Gene Gene information from NCBI Gene database.
Entrez ID 51741
Gene name WW domain containing oxidoreductase
Gene symbol WWOX
Synonyms (NCBI Gene)
D16S432EDEE28EIEE28FORFRA16DHHCMA56PRO0128SCAR12SDR41C1WOX1
Chromosome 16
Chromosome location 16q23.1-q23.2
Summary 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
SNPs SNP information provided by dbSNP.
35
SNP ID Visualize variation Clinical significance Consequence
rs75559202 C>G Benign, pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs79771882 G>A Benign, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, genic downstream transcript variant
rs117209694 C>G,T Likely-benign, uncertain-significance, pathogenic Synonymous variant, coding sequence variant, genic downstream transcript variant, missense variant
rs119487098 T>C Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs140817689 G>T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
46
miRTarBase ID miRNA Experiments Reference
MIRT736037 hsa-miR-92a-3p Luciferase reporter assayWestern blottingqRT-PCR 31456594
MIRT1494822 hsa-miR-1302 CLIP-seq
MIRT1494823 hsa-miR-149 CLIP-seq
MIRT1494824 hsa-miR-2115 CLIP-seq
MIRT1494825 hsa-miR-2116 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
E2F1 Repression 15044096
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation IEA
GO:0003713 Function Transcription coactivator activity IEA
GO:0003713 Function Transcription coactivator activity ISS 19366691
GO:0005515 Function Protein binding IPI 15064722, 15070730, 15580310, 16061658, 19465938, 25678599, 30285739, 32296183, 32814053, 33961781, 34819669
GO:0005634 Component Nucleus IDA 19366691
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605131 12799 ENSG00000186153
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZC7
Protein name WW domain-containing oxidoreductase (EC 1.1.1.-) (Fragile site FRA16D oxidoreductase) (Short chain dehydrogenase/reductase family 41C member 1)
Protein 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 T
PDB 1WMV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00397 WW 18 47 WW domain Domain
PF00397 WW 59 88 WW domain Domain
PF00106 adh_short 125 268 short chain dehydrogenase Domain
Tissue specificity 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:0000269|PubMed:10786676, ECO:0000269|PubMed:11719429}.
Sequence
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLP
YGWEQETDENGQVFFVDHINKRTTYLDP
RLAFTVDDNPTKPTTRQRYDGSTTAMEILQGR
DFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAM
TLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLV
QLLQDVLCRSAPARVIVVSSESHRFTDI
NDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCN
ILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTV
YCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWALSERLIQERLGSQSG
Sequence length 414
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nuclear signaling by ERBB4
Negative regulation of activity of TFAP2 (AP-2) family transcription factors
Activation of the TFAP2 (AP-2) family of transcription factors
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1857
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Pathogenic rs730882215 RCV000162124
Abnormality of the nervous system Likely pathogenic; Pathogenic rs1295198168, rs373306276, rs199628364 RCV001814482
RCV001814359
RCV001814252
Autosomal recessive spinocerebellar ataxia 12 Likely pathogenic; Pathogenic rs767732033, rs1164465811, rs1284883505, rs373306276, rs587777127, rs587777128, rs587777248, rs867163041, rs2151934194, rs2151674791, rs770155582, rs1377640182, rs730880291, rs730882215, rs1232899835
View all (27 more)
RCV001378782
RCV001378810
RCV001380098
RCV001384684
RCV000087048
RCV000087049
RCV000824131
RCV001958834
RCV001993945
RCV002007496
RCV001895441
RCV002222278
RCV001850176
RCV001220865
RCV003064358
RCV002570027
RCV002666550
RCV002780125
RCV002853268
RCV003021516
RCV003042824
RCV000490293
RCV000234306
RCV000229073
RCV001385286
RCV003792092
RCV003805646
RCV003797616
RCV003802342
RCV001850983
RCV001861445
RCV000458905
RCV001221428
RCV001381454
RCV000798699
RCV000703936
RCV000703935
RCV000688699
RCV000850618
RCV003117661
RCV000991459
RCV001389252
RCV001211320
RCV001232173
Brain atrophy Pathogenic rs730882215 RCV000162124
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs77897021, rs79064575 RCV005914803
RCV005923320
Cervical cancer Benign; Likely benign; Uncertain significance rs146301453, rs143302415 RCV005896700
RCV005901669
Cholangiocarcinoma Benign rs77897021 RCV005914806
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs199820033 RCV005897998
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34948746
Aging Premature Associate 34852950
Alzheimer Disease Associate 22193544, 34852950, 35627222, 36553611, 38232788, 40139278
Arteriolosclerosis Associate 34852950
Astrocytoma Associate 24503545
Ataxia Associate 25802472
Autism Spectrum Disorder Associate 27569545, 32081867
Autistic Disorder Associate 37583270
Bicuspid Aortic Valve Disease Associate 36071494
Brain Diseases Associate 27495153, 29852413, 30362252, 34268881, 37974179