WWOX - WW domain containing oxidoreductase Gene

Homo sapiens

Also known as FOR; WOX1; DEE28; EIEE28; FRA16D; SCAR12; HHCMA56; PRO0128; SDR41C1; D16S432E

Gene ID: 51741 | Gene type: protein coding

About WWOX

Cytogenetic location: 16q23.1-q23.2 Genomic coordinates (GRCh38): 16:78,099,654-79,212,667 (from NCBI)

This gene has 25 transcripts (splice variants), 205 orthologues, 25 paralogues and is associated with 9 phenotypes. Ubiquitous expression in thyroid (RPKM 4.4), kidney (RPKM 2.1) and 25 other tissues.

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 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]

WWOX Products(3)

mRNA	Protein	Name
NM_001291997.2	NP_001278926.1	WW domain-containing oxidoreductase isoform 4
NM_016373.4	NP_057457.1	WW domain-containing oxidoreductase isoform 1
NM_130791.5	NP_570607.1	WW domain-containing oxidoreductase isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	19366691	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15064722	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to transforming growth factor beta stimulus	IDA IDA: Inferred from direct assay	19366691	GOA
involved in negative regulation of Wnt signaling pathway	IDA IDA: Inferred from direct assay	19465938	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15064722	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	19465938	GOA
located in cytosol	IDA IDA: Inferred from direct assay	19366691	GOA
colocalizes with microvillus	IDA IDA: Inferred from direct assay	19366691	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19366691	GOA
colocalizes with plasma membrane	IDA IDA: Inferred from direct assay	19366691	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WWOX Protein Structure

adh_short

0
100
200
300
414 a.a.

Protein Preferred Names

Protein Names

WW domain-containing oxidoreductase

WW domain-containing protein WWOX

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia, Autosomal Recessive 12

Autosomal Recessive Spinocerebellar Ataxia 12	SCAR12
Spinocerebellar Ataxia With Mental Retardation And Epilepsy	Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Autosomal Recessive Spinocerebellar Ataxia Type 12	Spinocerebellar Ataxia, Autosomal Recessive, 12
Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Developmental And Epileptic Encephalopathy 28

DEE28	Epileptic Encephalopathy, Early Infantile, 28
Eiee28	Developmental And Epileptic Encephalopathy, 28
Early Infantile Epileptic Encephalopathy 28	Encephalopathy, Epileptic, Early Infantile, Type 28

Esophageal Cancer

Esophageal Carcinoma	Carcinoma Of Esophagus
Esophageal Squamous Cell Carcinoma, Somatic	Esophageal Carcinoma, Somatic
Esophagus Cancer	Gastric Cardia Adenocarcinoma
Esophageal Neoplasms	Esophageal Cancer, Somatic
Cancer Of Esophagus	Cancer Of Oesophagus
Carcinoma Of Oesophagus	Ca Lower Third Oesophagus
Ca Middle Third Oesophagus	Malignant Neoplasm Of Distal Third Of Esophagus
Malignant Neoplasm Of Lower Third Of Oesophagus	Malignant Neoplasm Of Middle Third Of Oesophagus
Malignant Neoplasm Of Proximal Third Of Esophagus	Malignant Neoplasm Of Upper Third Esophagus
Malignant Tumor Of Abdominal Esophagus	Malignant Tumor Of Distal Third Of Esophagus
Malignant Tumor Of Proximal Third Of Esophagus	Malignant Tumor Of The Middle Third Of The Esophagus
ESCR	Aerodigestive Tract Cancer
Escc	Esophageal Squamous Cell Carcinoma
Cancer, Esophageal	Malignant Neoplasm Of Esophagus
Squamous Cell Carcinoma Of Esophagus	Malignant Neoplasm Of Middle Third Of Esophagus

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1	Infantile Epileptic-Dyskinetic Encephalopathy
DEE1	Eiee1
Issx1	Xmesid
X-Linked Infantile Spasm Syndrome 1	X-Linked Infantile Spasm Syndrome
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome	Developmental And Epileptic Encephalopathy, 1
Infantile Epileptic Dyskinetic Encephalopathy	Infantile Spasm Syndrome, X-Linked 1
West Syndrome, X-Linked	Ohtahara Syndrome, X-Linked
Early Infantile Epileptic Encephalopathy 1	Early Infantile Epileptic Encephalopathy-1
Issx	X-Linked Ohtahara Syndrome
X-Linked West Syndrome	Infantile Spasm Syndrome X-Linked 1
Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity	Ohtahara Syndrome X-Linked
West Syndrome X-Linked	Encephalopathy, Epileptic, Early Infantile, Type 1

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

46,Xy Partial Gonadal Dysgenesis

46,Xy Pgd

46,Xy Partial Testicular Dysgenesis

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Spinocerebellar Ataxia 12

Spinocerebellar Ataxia Type 12	SCA12
Ataxia, Spinocerebellar, Type 12

Periosteal Osteogenic Sarcoma

Periosteal Osteosarcoma

Parosteal Osteosarcoma

Esophagus Squamous Cell Carcinoma

Esophageal Squamous Cell Carcinoma	Oesophagus Squamous Cell Carcinoma
Scc Of Esophagus	Scc Of Oesophagus
Squamous Cell Carcinoma Of The Esophagus	Escc
Esophageal Epidermoid Carcinoma	Squamous Cell Esophageal Cancer
Squamous Cell Carcinoma Of Esophagus

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Dyssegmental Dysplasia, Silverman-Handmaker Type

DDSH	Silverman-Handmaker Type Dyssegmental Dysplasia
Dyssegmental Dysplasia Silverman-Handmaker Type	Dyssegmental Dwarfism Silverman-Handmaker Type
Dyssegmental Dwarfism, Silverman-Handmaker Type	Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type
Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type	Dysplasia, Dyssegmental, Silverman-Handmaker Type

Squamous Cell Carcinoma

Epidermoid Carcinoma	Squamous Cell Cancer
Carcinoma, Squamous Cell	Squamous Cell Skin Cancer
Malignant Squamous Cell Tumor	Squamous Carcinoma
Squamous Cell Epithelioma	Carcinoma Squamous Cell
Neoplasms, Squamous Cell	Squamous Cell Carcinoma - Category
Malignant Squamous Cell Neoplasm	Squamous Cell Carcinoma Of Skin

Adenocarcinoma

Adenocarcinomas	Adenoacanthoma Of Unspecified Site
Adenocarcinoid Of Unspecified Site	Adenocarcinoid Tumour Of Unspecified Site
Adenocarcinoma And Carcinoid Combined Of Unspecified Site	Adenocarcinoma Nos

Developmental And Epileptic Encephalopathy 84

DEE84	Jamuar Syndrome
Eiee84	Developmental And Epileptic Encephalopathy, 84
Epileptic Encephalopathy, Early Ifantile, 84	Early Infantile Epileptic Encephalopathy 84
Epileptic Encephalopathy, Early Infantile, 84	Encephalopathy, Epileptic, Early Infantile, Type 84

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Epilepsy With Generalized Tonic-Clonic Seizures

Tonic-Clonic Epilepsy	Epileptic Seizures, Tonic-Clonic
Grand Mal Epilepsy	Epilepsy, Tonic-Clonic

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Hereditary Spastic Paraplegia 51

Autosomal Dominant Spastic Paraplegia 51	Cpsq4
Spastic Quadriplegic Cerebral Palsy 4	Spg51
Spastic Paraplegia 51, Autosomal Recessive

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations

Severe Congenital Encephalopathy Due To Mecp2 Mutation	Severe Neonatal-Onset Encephalopathy With Microcephaly
Encephalopathy, Neonatal Severe	Neonatal Severe Encephalopathy Due To Mecp2 Mutations
Mecp2-Related Severe Neonatal Encephalopathy	Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy
Severe Neonatal Encephalopathy Due To Mecp2 Mutations	ENS-MECP2
Encephalopathy, Neonatal, Severe

Peripheral Osteosarcoma

Surface Osteosarcoma

Bone Surface Osteosarcoma

Chronic Fatigue Syndrome

Myalgic Encephalomyelitis	Postviral Fatigue Syndrome
Cfs	Myalgic Encephalitis
Encephalomyelitis, Myalgic	Chronic Fatigue
Fatigue Syndrome, Chronic	Benign Myalgic Encephalomyelitis
Akureyri	Akureyri Disease
Cfs - [Chronic Fatigue Syndrome]	Epidemic Neuromyasthenia
Myalgic Encephalomyelitis Syndrome	Me - [Myalgic Encephalomyelitis]
Pvfs - [Postviral Fatigue Syndrome]	Neuromyasthenia
Iceland Disease	Icelandic Disease

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Retinal Degeneration

Degeneration Of Retina

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15859	WWOX Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	WWOX	VGNC	VGNC:78805
Rattus norvegicus	WWOX	RGD	RGD:1309927
Mus musculus	WWOX	MGD	MGI:1931237
Canis familiaris	WWOX	VGNC	VGNC:48442
Bos taurus	WWOX	VGNC	VGNC:36977