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WFDC12 Gene

protein-coding   GIFtS: 46
GCID: GC20M043752

WAP Four-Disulfide Core Domain 12

(Previous name: chromosome 20 open reading frame 122)
(Previous symbol: C20orf122)
  Search for WFDC12
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
WAP Four-Disulfide Core Domain 121 2     Chromosome 20 Open Reading Frame 1221
C20orf1221 2 3     dJ211D12.42
WAP22 3 5     Protease Inhibitor WAP22
Putative Protease Inhibitor WAP122 3     Single WAP Motif Protein 22
Whey Acidic Protein 22 3     WAP Four-Disulfide Core Domain Protein 122
SWAM22 5     

External Ids:    HGNC: 161151   Entrez Gene: 1284882   Ensembl: ENSG000001687037   OMIM: 6098725   UniProtKB: Q8WWY73   

Export aliases for WFDC12 gene to outside databases

Previous GC identifers: GC20M043440 GC20M044390 GC20M044437 GC20M043185 GC20M040493


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for WFDC12 Gene:
This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP
signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions
as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters:
centromeric and telomeric. This gene belongs to the centromeric cluster. (provided by RefSeq, Jul 2008)

GeneCards Summary for WFDC12 Gene:
WFDC12 (WAP four-disulfide core domain 12) is a protein-coding gene. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot: WFD12_HUMAN, Q8WWY7
Function: Antibacterial protein. Putative acid-stable proteinase inhibitor




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the WFDC12 gene promoter:
         AP-1   POU2F1   POU2F1a   Nkx5-1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWFDC12 promoter sequence
   Search Chromatin IP Primers for WFDC12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WFDC12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

WFDC12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WFDC12 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M043752:  view genomic region     (about GC identifiers)

Start:
43,752,066 bp from pter      End:
43,753,106 bp from pter
Size:
1,041 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: WFD12_HUMAN, Q8WWY7 (See protein sequence)
Recommended Name: WAP four-disulfide core domain protein 12 precursor  
Size: 111 amino acids; 12050 Da
Secondary accessions: Q5H980 Q9BR31

Explore the universe of human proteins at neXtProt for WFDC12: NX_Q8WWY7

Explore proteomics data for WFDC12 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See WFDC12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_543145.1  
    ENSEMBL proteins: 
     ENSP00000361871  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WFDC: WAP four-disulfide core domain containing

    1 InterPro protein domain:
     IPR008197 WAP-type_4-diS_core

    Graphical View of Domain Structure for InterPro Entry Q8WWY7

    ProtoNet protein and cluster: Q8WWY7

    1 Blocks protein domain: IPB008197 4-disulphide core signature

    UniProtKB/Swiss-Prot: WFD12_HUMAN, Q8WWY7
    Similarity: Contains 1 WAP domain


    Find genes that share domains with WFDC12           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WFD12_HUMAN, Q8WWY7
    Function: Antibacterial protein. Putative acid-stable proteinase inhibitor

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity NAS11779191
    GO:0030414peptidase inhibitor activity ----
         
    Find genes that share ontologies with WFDC12           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for WFDC12:
     Decreased nuclei size in G2M  Increased cilium length after   Synthetic lethal with Ras 

         1 MGI phenotypic allele for Wfdc12 (no phenotypes)

    Find genes that share phenotypes with WFDC12           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Wfdc12tm1Lex for WFDC12

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    WFD12_HUMAN, Q8WWY7: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    Find genes that share ontologies with WFDC12           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WFDC12
    Interactions:

        Search GeneGlobe Interaction Network for WFDC12

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for WFDC12 (ENSP000003618714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC2ENSP000003813314STRING: ENSP00000381331
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010951negative regulation of endopeptidase activity NAS11779191
    GO:0042742defense response to bacterium ISS--

    Find genes that share ontologies with WFDC12           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WFDC12 (WFD12)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for WFDC12 gene: 
    NM_080869.1  

    Unigene Cluster for WFDC12:

    WAP four-disulfide core domain 12
    Hs.352180
    Unigene Representative Sequence: AY037803
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000372785(uc002xnf.1)
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      QuantiFast Probe-based Assays in human, mouse, rat WFDC12

    Additional mRNA sequence: 

    AY037803.1 AY358678.1 

    1 DOTS entry:

    DT.97816550 

    3 AceView cDNA sequences:

    AY037803 NM_080869 AY358678 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    WFDC12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGAAACCA
    WFDC12 Expression
    About this image


    WFDC12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
    WFDC12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WFDC12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.352180

    UniProtKB/Swiss-Prot: WFD12_HUMAN, Q8WWY7
    Tissue specificity: Highly expressed in prostate, skin, lung and esophagus. Weakly expressed in skeletal muscle,
    epididymis, kidney, trachea, salivary gland, testis and seminal vesicle

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for WFDC12 gene from Selected species (see all 2)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wfdc125 WAP four-disulfide core domain 12   --   2 (84.60 cM) 164189231 


    ENSEMBL Gene Tree for WFDC12 (if available)
    TreeFam Gene Tree for WFDC12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WFDC12 gene
    3 SIMAP similar genes for WFDC12 using alignment to 1 protein entry:     WFD12_HUMAN:
    SLPI    WFDC8    WFDC2

    Find genes that share paralogs with WFDC12           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for WFDC12 (see all 85)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs750771841,2
    C,F--43751640(+) ATATAC/ACACAG 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs15736991,2
    C,F,O,A,H--43751660(+) ATGGCA/GCCCTG 1 -- ds500132Minor allele frequency- G:0.35MN NS EA NA WA CSA 3096
    rs341695551,2
    C,F--43751682(+) AAGCCA/CTGGAT 1 -- ds50016Minor allele frequency- C:0.18NA EA 248
    rs21573611,2
    C,F,O,A--43751782(+) CCAAGG/ATGAAC 1 -- ds500114Minor allele frequency- A:0.37NA WA CSA EA 514
    rs785029261,2
    C,F--43751851(+) TTATTC/TTGTAG 1 -- ds50011Minor allele frequency- T:0.03NA 120
    rs15737001,2
    C,F,A,H--43752029(+) TTAGCA/TGGTTT 1 -- ds500115Minor allele frequency- T:0.33NS EA NA WA CSA 778
    rs1505124471,2
    C--43752042(+) GCTGCC/G/TATAAC 1 -- ds50010--------
    rs1878642141,2
    --43752054(+) AATTAC/GCATAG 1 -- ds50010--------
    rs126247251,2
    C,H--43752056(+) TTACCA/TTAGAC 1 -- ds50013Minor allele frequency- T:0.17NA EA 242
    rs1905528851,2
    C--43752112(+) GGCTGA/GGAAGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for WFDC12 (43752066 - 43753106 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for WFDC12: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing WFDC12
    DNA2.0 Custom Variant and Variant Library Synthesis for WFDC12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609872    OMIM disorders: --


    Find genes that share disorders with WFDC12           About GenesLikeMe


    Export disorders for WFDC12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for WFDC12 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with WFDC12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel protease inhibitor gene that is highly expressed in the prostate. (PubMed id 11779191)1, 2, 3 Lundwall A. and Clauss A. (Biochem. Biophys. Res. Commun. 2002)
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    3. A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein. (PubMed id 12206714)1, 3 Clauss A.... Lundwall A. (Biochem. J. 2002)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    5. The evolution of a genetic locus encoding small serine proteinase inhibitors. (PubMed id 15950183)1 Clauss A....Lundwall A. (Biochem. Biophys. Res. Commun. 2005)
    6. Comparative sequence analyses reveal rapid and divergent evolutionary changes of the WFDC locus in the primate lineage. (PubMed id 17267810)9 Hurle B....Green E.D. (Genome Res. 2007)
    7. Species-specific alternative splicing of transgenic RNA in the mammary glands of pigs, rabbits, and mice. (PubMed id 10208871)9 Aigner B....Brem G. (Biochem. Biophys. Res. Commun. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 128488 HGNC: 16115 AceView: WFDC12 Ensembl:ENSG00000168703 euGenes: HUgn128488
    ECgene: WFDC12 H-InvDB: WFDC12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for WFDC12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WFDC12 gene:
    Search GeneIP for patents involving WFDC12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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