Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    WWOX WW domain containing oxidoreductase [ Homo sapiens (human) ]

    Gene ID: 51741, updated on 8-Oct-2017
    Official Symbol
    WWOXprovided by HGNC
    Official Full Name
    WW domain containing oxidoreductaseprovided by HGNC
    Primary source
    HGNC:HGNC:12799
    See related
    Ensembl:ENSG00000186153 MIM:605131; Vega:OTTHUMG00000176851
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FOR; WOX1; EIEE28; FRA16D; SCAR12; HHCMA56; PRO0128; SDR41C1; D16S432E
    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]
    Orthologs
    Location:
    16q23.1-q23.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (78099413..79212667)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (78133310..79246567)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984897 Neighboring gene leucine rich repeat containing 59 pseudogene Neighboring gene keratin 8 pseudogene 22 Neighboring gene WWOX antisense RNA 1 Neighboring gene LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 5 Neighboring gene uncharacterized LOC105371354 Neighboring gene ribosomal protein S3 pseudogene 7 Neighboring gene uncharacterized LOC107984806 Neighboring gene RNA, 5S ribosomal pseudogene 431 Neighboring gene MAF bZIP transcription factor Neighboring gene uncharacterized LOC101928230

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Epileptic encephalopathy, early infantile, 28
    MedGen: C4015519 OMIM: 616211 GeneReviews: Not available
    Compare labs
    Spinocerebellar ataxia, autosomal recessive 12
    MedGen: C3280452 OMIM: 614322 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study on obesity and obesity-related traits.
    NHGRI GWA Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    NHGRI GWA Catalog
    Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    NHGRI GWA Catalog
    Genetic variants associated with disordered eating.
    NHGRI GWA Catalog
    Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies six new loci associated with forced vital capacity.
    NHGRI GWA Catalog
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    NHGRI GWA Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    NHGRI GWA Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    NHGRI GWA Catalog
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    NHGRI GWA Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    NHGRI GWA Catalog
    Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
    NHGRI GWA Catalog
    Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
    NHGRI GWA Catalog
    • Activation of the TFAP2 (AP-2) family of transcription factors, organism-specific biosystem (from REACTOME)
      Activation of the TFAP2 (AP-2) family of transcription factors, organism-specific biosystemThe helix-span-helix motif and the basic region of TFAP2 (AP-2) transcription factor family members TFAP2A, TFAP2B, TFAP2C, TFAP2D and TFAP2E enable dimerization and DNA binding. AP-2 dimers bind pal...
    • ErbB4 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      ErbB4 signaling events, organism-specific biosystem
      ErbB4 signaling events
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Negative regulation of activity of TFAP2 (AP-2) family transcription factors, organism-specific biosystem (from REACTOME)
      Negative regulation of activity of TFAP2 (AP-2) family transcription factors, organism-specific biosystemTranscriptional activity of TFAP2 (AP-2) transcription factor family homo- and heterodimers in inhibited by binding of KCTD1 or KCTD15 to the AP-2 transactivation domain (Ding et al. 2009, Zarelli an...
    • Nuclear signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystem (from REACTOME)
      Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystemThe AP-2 (TFAP2) family of transcription factors includes five proteins in mammals: TFAP2A (AP-2 alpha), TFAP2B (AP-2 beta), TFAP2C (AP-2 gamma), TFAP2D (AP-2 delta) and TFAP2E (AP-2 epsilon). The AP...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to RNA polymerase II transcription coactivator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    coenzyme binding TAS
    Traceable Author Statement
    more info
    PubMed 
    cofactor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    oxidoreductase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    oxidoreductase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein dimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic apoptotic signaling pathway by p53 class mediator IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of extrinsic apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal system morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    steroid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II transcription factor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with microvillus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    WW domain-containing oxidoreductase
    Names
    WW domain-containing protein WWOX
    fragile site FRA16D oxidoreductase
    short chain dehydrogenase/reductase family 41C member 1
    NP_001278926.1
    NP_057457.1
    NP_570607.1
    XP_011521403.1
    XP_011521405.1
    XP_011521406.1
    XP_011521407.1
    XP_016878767.1
    XP_016878768.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011698.1 RefSeqGene

      Range
      4760..1118014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291997.1NP_001278926.1  WW domain-containing oxidoreductase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AF211943, DB035405
      UniProtKB/Swiss-Prot
      Q9NZC7
      Conserved Domains (2) summary
      cd09809
      Location:11294
      human_WWOX_like_SDR_c-like; human WWOX (WW domain-containing oxidoreductase)-like, classical (c)-like SDRs
      PRK06196
      Location:2291
      PRK06196; oxidoreductase; Provisional
    2. NM_016373.3NP_057457.1  WW domain-containing oxidoreductase isoform 1

      See identical proteins and their annotated locations for NP_057457.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF211943, DB035405
      Consensus CDS
      CCDS42196.1
      UniProtKB/Swiss-Prot
      Q9NZC7
      Related
      ENSP00000457230.1, OTTHUMP00000255405, ENST00000566780.5, OTTHUMT00000434328
      Conserved Domains (3) summary
      cd09809
      Location:124407
      human_WWOX_like_SDR_c-like; human WWOX (WW domain-containing oxidoreductase)-like, classical (c)-like SDRs
      PRK06196
      Location:107404
      PRK06196; oxidoreductase; Provisional
      cd00201
      Location:1947
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    3. NM_130791.3NP_570607.1  WW domain-containing oxidoreductase isoform 2

      See identical proteins and their annotated locations for NP_570607.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons and uses an alternate 3'-terminal exon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF187015, AW874692, DB035405
      Consensus CDS
      CCDS42197.1
      UniProtKB/Swiss-Prot
      Q9NZC7
      Related
      ENSP00000348119.3, OTTHUMP00000255230, ENST00000355860.7, OTTHUMT00000434020
      Conserved Domains (3) summary
      cd00201
      Location:6090
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:1847
      WW; WW domain
      cl21454
      Location:124172
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RNA

    1. NR_120435.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is intronless and extends past a splice site that is used in variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AF227529, AW874693, DB035405
    2. NR_120436.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5'-terminal exon, lacks several exons, and uses an alternate 3'-terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AF187015, AW874692, BU157392, DB035405
      Related
      ENST00000627394.2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      78099413..79212667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523103.2XP_011521405.1  WW domain-containing oxidoreductase isoform X2

      Conserved Domains (4) summary
      cd00201
      Location:6090
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00106
      Location:125326
      adh_short; short chain dehydrogenase
      pfam00397
      Location:1847
      WW; WW domain
      cl21454
      Location:124357
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. XM_011523101.2XP_011521403.1  WW domain-containing oxidoreductase isoform X1

      Conserved Domains (3) summary
      cd00201
      Location:1947
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00106
      Location:125326
      adh_short; short chain dehydrogenase
      cl21454
      Location:124352
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. XM_011523104.2XP_011521406.1  WW domain-containing oxidoreductase isoform X3

      Related
      ENSP00000386161.3, OTTHUMP00000255411, ENST00000408984.7, OTTHUMT00000434335
      Conserved Domains (4) summary
      cd00201
      Location:6090
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00106
      Location:125326
      adh_short; short chain dehydrogenase
      pfam00397
      Location:1847
      WW; WW domain
      cl21454
      Location:124352
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    4. XM_017023278.1XP_016878767.1  WW domain-containing oxidoreductase isoform X4

    5. XM_011523105.2XP_011521407.1  WW domain-containing oxidoreductase isoform X5

      Conserved Domains (3) summary
      cd00201
      Location:6090
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:1847
      WW; WW domain
      cl21454
      Location:124173
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    6. XM_017023279.1XP_016878768.1  WW domain-containing oxidoreductase isoform X6

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      79544676..80658050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_018560.4: Suppressed sequence

      Description
      NM_018560.4: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_130788.1: Suppressed sequence

      Description
      NM_130788.1: This RefSeq was permanently suppressed because it appears to be specific to a disease state.
    3. NM_130790.1: Suppressed sequence

      Description
      NM_130790.1: This RefSeq was permanently suppressed because it appears to be specific to a disease state.
    4. NM_130792.1: Suppressed sequence

      Description
      NM_130792.1: This RefSeq was permanently suppressed because it appears to be specific to a disease state.
    5. NM_130844.2: Suppressed sequence

      Description
      NM_130844.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Support Center