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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WFDC12 Gene

protein-coding   GIFtS: 45
GCID: GC20M043752

WAP Four-Disulfide Core Domain 12

(Previous name: chromosome 20 open reading frame 122)
(Previous symbol: C20orf122)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with WFDC12 include prostatitis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for WFDC12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Secreted (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WWY7

  • WFDC12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    WFDC12 Protein Expression
    REFSEQ proteins: NP_543145.1  
    ENSEMBL proteins: 
     ENSP00000361871  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    WFDC12 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    WFDC12 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity NAS11779191
    GO:0030414peptidase inhibitor activity ----
         
    WFDC12 for ontologies           About GeneDecksing


    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)

    WFDC12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Wfdc12tm1Lex for WFDC12

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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042742defense response to bacterium ISS--

    WFDC12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WFDC12 (WFD12)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)
    miRNA
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    Inhib. RNA
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    Primer
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      QIAGEN 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    WFDC12 expression in normal human tissues (normalized intensities)      WFDC12 embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles

     -- (Reproductive System)
             penis   

    See WFDC12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WFDC12

    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

        SABiosciences Custom PCR Arrays for WFDC12
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WFDC12

    (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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for WFDC12 gene from 1/2 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)
    About This Section
    Paralogs for WFDC12 gene
    3 SIMAP similar genes for WFDC12 using alignment to 1 protein entry:     WFD12_HUMAN:
    SLPI    WFDC8    WFDC2

    WFDC12 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/85 SNPs in WFDC12 are shown (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: --
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609872    OMIM disorders: --

    2 diseases for WFDC12:    About MalaCards
    prostatitis    


    WFDC12 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for WFDC12 gene integrated from 9 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. (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. (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. (2002)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    5. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    6. The evolution of a genetic locus encoding small serine proteinase inhibitors. (PubMed id 15950183)1 Clauss A....Lundwall A. (2005)
    7. 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. (2007)
    8. Species-specific alternative splicing of transgenic RNA in the mammary glands of pigs, rabbits, and mice. (PubMed id 10208871)9 Aigner B....Brem G. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 128488 HGNC: 16115 AceView: WFDC12 Ensembl:ENSG00000168703 euGenes: HUgn128488
    ECgene: WFDC12 H-InvDB: WFDC12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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