Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51741
Gene name Gene Name - the full gene name approved by the HGNC.	WW domain containing oxidoreductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	WWOX
Synonyms (NCBI Gene) Gene synonyms aliases	D16S432E, DEE28, EIEE28, FOR, FRA16D, HHCMA56, PRO0128, SCAR12, SDR41C1, WOX1
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q23.1-q23.2
Summary Summary of gene provided in NCBI Entrez 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 induc

Show/Hide all(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
rs186745328	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs201008667	C>G,T	Likely-pathogenic, pathogenic	Missense variant, 5 prime UTR variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs368928190	C>G,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs369907002	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs587777128	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs587777248	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant, intron variant
rs730880290	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs730880291	GACG>-	Pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs730880292	C>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs730882215	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs751181600	G>T	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs756762196	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs759766243	C>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained, synonymous variant
rs878855021	C>G	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886039653	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs990150249	C>G	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs1039151413	G>A,C	Likely-pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant
rs1057517846	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, intron variant
rs1057518795	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1060502727	G>C,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1064795117	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1131691285	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1164465811	G>A,C,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1300924648	G>A,T	Pathogenic	Non coding transcript variant, splice donor variant
rs1555532979	TAAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, intron variant, 5 prime UTR variant
rs1555535072	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, stop gained
rs1567542020	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1597207802	A>T	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1597207871	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1597216056	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant

Show/Hide all(46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT736037	hsa-miR-92a-3p	Luciferase reporter assay, Western blotting, qRT-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
MIRT1494826	hsa-miR-24	CLIP-seq
MIRT1494827	hsa-miR-3064-5p	CLIP-seq
MIRT1494828	hsa-miR-3145-3p	CLIP-seq
MIRT1494829	hsa-miR-320e	CLIP-seq
MIRT1494830	hsa-miR-3652	CLIP-seq
MIRT1494831	hsa-miR-3938	CLIP-seq
MIRT1494832	hsa-miR-4264	CLIP-seq
MIRT1494833	hsa-miR-4272	CLIP-seq
MIRT1494834	hsa-miR-4284	CLIP-seq
MIRT1494835	hsa-miR-4298	CLIP-seq
MIRT1494836	hsa-miR-4311	CLIP-seq
MIRT1494837	hsa-miR-4430	CLIP-seq
MIRT1494838	hsa-miR-4505	CLIP-seq
MIRT1494839	hsa-miR-4639-5p	CLIP-seq
MIRT1494840	hsa-miR-4677-5p	CLIP-seq
MIRT1494841	hsa-miR-4717-5p	CLIP-seq
MIRT1494842	hsa-miR-4793-5p	CLIP-seq
MIRT1494843	hsa-miR-498	CLIP-seq
MIRT1494844	hsa-miR-516a-3p	CLIP-seq
MIRT1494845	hsa-miR-622	CLIP-seq
MIRT1494846	hsa-miR-670	CLIP-seq
MIRT1494847	hsa-miR-892b	CLIP-seq
MIRT1494848	hsa-miR-122	CLIP-seq
MIRT1494849	hsa-miR-1587	CLIP-seq
MIRT1494850	hsa-miR-1909	CLIP-seq
MIRT1494851	hsa-miR-1915	CLIP-seq
MIRT1494852	hsa-miR-3135b	CLIP-seq
MIRT1494853	hsa-miR-3665	CLIP-seq
MIRT1494854	hsa-miR-3944-5p	CLIP-seq
MIRT1494855	hsa-miR-4417	CLIP-seq
MIRT1494856	hsa-miR-4492	CLIP-seq
MIRT1494857	hsa-miR-4498	CLIP-seq
MIRT1494858	hsa-miR-4656	CLIP-seq
MIRT1494859	hsa-miR-4675	CLIP-seq
MIRT1494860	hsa-miR-4726-3p	CLIP-seq
MIRT1494861	hsa-miR-4741	CLIP-seq
MIRT1494862	hsa-miR-762	CLIP-seq
MIRT1494863	hsa-miR-764	CLIP-seq
MIRT2369586	hsa-miR-1913	CLIP-seq
MIRT2369587	hsa-miR-324-3p	CLIP-seq
MIRT2369588	hsa-miR-4313	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
E2F1	Repression	15044096

Show/Hide all(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
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	19465938
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005794	Component	Golgi apparatus	IDA	15064722, 30285739
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA	19366691
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	19366691
GO:0005902	Component	Microvillus	IDA	19366691
GO:0006915	Process	Apoptotic process	IEA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016491	Function	Oxidoreductase activity	NAS	10861292
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	19366691
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IDA	19465938
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	ISS
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	19366691
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS	19366691
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	ISS
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

MIM	HGNC	e!Ensembl
605131	12799	ENSG00000186153

Protein

UniProt ID

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
YGWEQETDENGQVFFVDHINKRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGR
DFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAM
TLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLV
QLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCN
ILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTV
YCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWALSERLIQERLGSQSG

Sequence length

414

Interactions

View interactions

	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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 28, Developmental and epileptic encephalopathy, 1	rs1057518795, rs587777248, rs1060502727, rs730880290, rs1064795117, rs730880291, rs201008667, rs730880292, rs1555532979, rs730882215, rs1164465811, rs1300924648, rs368928190, rs1597207871, rs1597216056, rs759766243, rs587777127 View all (2 more)	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs759766243, rs1057518795	N/A
Spinocerebellar Ataxia	Autosomal recessive spinocerebellar ataxia 12	rs587777128, rs751181600, rs587777127	N/A

Show/Hide Unknown Diseases (15)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Anorexia	Anorexia nervosa	N/A	N/A	GWAS
Astrocytoma	Pilocytic astrocytoma	N/A	N/A	GWAS
Breast Cancer	Breast cancer	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Developmental Delay	global developmental delay	N/A	N/A	ClinVar
Esophagus Neoplasm	Malignant tumor of esophagus	N/A	N/A	ClinVar
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Ischemic Stroke	Ischemic stroke	N/A	N/A	GWAS
Lung adenocarcinoma	Familial squamous cell lung carcinoma	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Obesity	Obesity	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (128)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Breast Neoplasms	Inhibit	15064722, 20401669
Breast Neoplasms	Associate	15073846, 15692750, 19130459, 19188760, 21347750, 22806168, 25417742, 30285739, 35290621, 37248434
Calcinosis Cutis	Inhibit	32300104
Carcinogenesis	Inhibit	14526170, 20535528
Carcinogenesis	Associate	16152610, 16187332, 16895604, 18047428, 18061530, 18629536, 19188760, 20480411, 23370280, 29164763, 29310145, 35290621, 35563688
Carcinoma Basal Cell	Inhibit	20401669
Carcinoma Giant Cell	Associate	23849374
Carcinoma Hepatocellular	Associate	15266310, 24969559, 26010871, 28426730, 30242144, 32931356, 36587184
Carcinoma Hepatocellular	Inhibit	18620777, 22736928
Carcinoma Intraductal Noninfiltrating	Associate	15692750
Carcinoma Non Small Cell Lung	Associate	20480411
Carcinoma Ovarian Epithelial	Associate	15870886, 27190995, 28749468
Carcinoma Squamous Cell	Associate	24008736
Cell Transformation Neoplastic	Associate	18460020
Cholangiocarcinoma	Inhibit	18629536, 25502636
Cognition Disorders	Associate	33958783, 40139278
Colonic Diseases	Associate	24938873
Colorectal Neoplasms	Associate	21347750, 22860045, 24938873, 26010871, 39332629
Coronary Artery Disease	Associate	24098343
Death	Associate	24456803, 25802472, 27495153, 35715422
Dementia	Associate	34852950, 37328865
Developmental Disabilities	Associate	27495153, 37583270
Disease	Associate	25802472
Disorder of Sex Development 46 XY	Associate	22071891
Dyslipidemias	Associate	33612478
Epilepsy	Associate	24456803, 25802472, 27495153, 37095367, 40191585
Epileptic Encephalopathy Early Infantile 3	Associate	34268881
Facial Dysmorphism with Multiple Malformations	Associate	37583270
Fractures Spontaneous	Associate	25802472
Genetic Diseases Inborn	Associate	24456803
Glioblastoma	Associate	20535528, 24503545, 25051421, 25595187, 31456594
Glioma	Associate	26910372
Gonadal Disorders	Associate	22071891
Growth Disorders	Associate	24456803, 27495153
Haspeslagh Fryns Muelenaere syndrome	Stimulate	26120275
Head and Neck Neoplasms	Associate	32669614
Hemangioblastoma	Associate	28742274
Hereditary Breast and Ovarian Cancer Syndrome	Associate	15073846, 30285739, 35290621
Hereditary Breast and Ovarian Cancer Syndrome	Inhibit	21347750
Hippocampal Sclerosis	Associate	34852950
HIV Infections	Associate	19832807
Hyperlipidemia Familial Combined	Associate	20942981
Hyperphosphatemia	Associate	22479346
Hypertension	Associate	22479346
Hypertensive Retinopathy	Associate	24456803
Hypoglycemia	Associate	22479346
Intellectual Disability	Associate	27495153, 30362252
Intracranial Aneurysm	Associate	26910372
Language Development Disorders	Associate	27569545
Language Disorders	Associate	24949445
Leprosy Tuberculoid	Associate	25802472
Leukoplakia Oral	Associate	18061530
limbic predominant age related TDP 43 encephalopathy	Associate	34852950
Lung Neoplasms	Associate	17890317, 25517572, 34948746
Lymphatic Metastasis	Associate	21069451, 30013442
Lymphoma Non Hodgkin	Associate	19832807, 20651033
Lymphoma Primary Effusion	Associate	21685375
Meningioma	Associate	24503545
Microcephaly	Associate	24456803, 37583270
Microsatellite Instability	Inhibit	22860045
Mouth Neoplasms	Associate	16152610, 27655721
Movement Disorders	Associate	37583270
Multiple Myeloma	Associate	17609426
Muscle Hypotonia	Associate	37583270
Nasopharyngeal Carcinoma	Inhibit	23534718
Nasopharyngeal Carcinoma	Associate	32101017
Neoplasm Invasiveness	Associate	28426730
Neoplasm Metastasis	Inhibit	32300104
Neoplasm Metastasis	Associate	37324196
Neoplasms	Inhibit	14526170, 15070730, 15870886, 15982416, 16152610, 16187332, 16941225, 17679088, 17704139, 17890317, 18061530, 18452537, 18460020, 18620777, 19484134 View all (29 more)
Neoplasms	Associate	15064722, 15073846, 15266310, 16152610, 16895604, 17609426, 19130459, 19352382, 19434452, 19700237, 21069451, 22736928, 23370280, 23534718, 24456803 View all (17 more)
Nerve Degeneration	Associate	25802472
Nervous System Neoplasms	Associate	24503545
Neurilemmoma	Associate	24503545
Neurodegenerative Diseases	Associate	25802472
Non alcoholic Fatty Liver Disease	Associate	36587184
Osteogenesis imperfecta type 1A	Associate	26910372
Osteosarcoma	Associate	24330824, 25418192, 33455117
Osteosarcoma	Inhibit	29845204
Ovarian Diseases	Associate	15870886
Ovarian Neoplasms	Inhibit	15982416
Ovarian Neoplasms	Associate	21069451, 25891642, 27190995, 28749468, 32096174
Pancreatic Intraductal Neoplasms	Associate	19352382
Pancreatic Neoplasms	Inhibit	18460020, 19352382, 19434452
Pancreatic Neoplasms	Associate	26857392
Pancreatitis	Associate	19352382
Parkinson Disease	Associate	33958783, 35053314, 37328865, 40139278
Personality Disorders	Associate	27655721
Precancerous Conditions	Inhibit	18460020
Precancerous Conditions	Associate	19700237
Prostate cancer familial	Associate	19035517
Prostate Cancer Hereditary 7	Associate	21965145
Prostatic Neoplasms	Inhibit	17704139, 19035517
Prostatic Neoplasms	Associate	19035517, 19484134, 21965145, 37324196
Prostatitis	Associate	21965145
Pterygium	Associate	26120275
Pulmonary Disease Chronic Obstructive	Associate	25517572, 26902998
Retinal Degeneration	Associate	24456803
Retinal Dysplasia	Associate	18061530
Seizures	Associate	27495153, 30362252, 31618474, 35715422
Severe Acute Respiratory Syndrome	Associate	35715422
Small Cell Lung Carcinoma	Associate	21276135
Spasm	Associate	37583270
Spasms Infantile	Associate	37583270
Spherocytosis Type 1	Associate	34852950
Spinocerebellar Ataxia 12	Associate	34268881
Squamous Cell Carcinoma of Head and Neck	Associate	16152610, 18061530, 25612104, 27501229, 29164763
Syndrome	Associate	37974179
Tertiary Lymphoid Structures	Associate	34948746
Thyroid Cancer Papillary	Inhibit	18047428
Thyroid Neoplasms	Inhibit	18047428
Triple Negative Breast Neoplasms	Inhibit	21069451
Triple Negative Breast Neoplasms	Associate	32300104, 39473747
Uniparental Disomy	Associate	30362252
Urinary Bladder Neoplasms	Inhibit	18452537
Urinary Bladder Neoplasms	Associate	33691672, 35563688
Uterine Cervical Dysplasia	Inhibit	18460020
Uterine Cervical Neoplasms	Associate	19700237, 29310145, 30013442

WWOX (WW domain containing oxidoreductase)