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

WFDC8 Gene

protein-coding   GIFtS: 42
GCID: GC20M044179

WAP Four-Disulfide Core Domain 8

(Previous name: chromosome 20 open reading frame 170)
(Previous symbol: C20orf170)
  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 81 2     dJ461P17.12
C20orf1701 2 3     Protease Inhibitor WAP82
Putative Protease Inhibitor WAP82 3     WAP Four-Disulfide Core Domain Protein 82
WAP82 3     WAP Motif Protein 12
Chromosome 20 Open Reading Frame 1701     

External Ids:    HGNC: 161631   Entrez Gene: 901992   Ensembl: ENSG000001589017   UniProtKB: Q8IUA03   

Export aliases for WFDC8 gene to outside databases

Previous GC identifers: GC20M043868 GC20M044818 GC20M044865 GC20M043613 GC20M040921


(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 WFDC8 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. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC
domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This
gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this
gene, and they encode the same protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for WFDC8 Gene: 
WFDC8 (WAP four-disulfide core domain 8) is a protein-coding gene. Diseases associated with WFDC8 include pancreatitis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is WFDC6.




(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  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WFDC8 gene promoter:
         HNF-1   HFH-1   Hand1   HNF-1A   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWFDC8 promoter sequence
   Search SABiosciences Chromatin IP Primers for WFDC8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WFDC8


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: 20q13.11

WFDC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WFDC8 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M044179:  view genomic region     (about GC identifiers)

Start:
44,179,791 bp from pter      End:
44,207,965 bp from pter
Size:
28,175 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: WFDC8_HUMAN, Q8IUA0 (See protein sequence)
Recommended Name: WAP four-disulfide core domain protein 8 precursor  
Size: 241 amino acids; 27824 Da
Subcellular location: Secreted (Potential)
Secondary accessions: E1P623 Q5TDV2 Q96A34

Explore the universe of human proteins at neXtProt for WFDC8: NX_Q8IUA0

Explore proteomics data for WFDC8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IUA0

  • WFDC8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    WFDC8 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_570966.2  NP_852611.2  

    ENSEMBL proteins: 
     ENSP00000361735   ENSP00000289953  

    Human Recombinant Protein Products for WFDC8: 
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    Cloud-Clone Corp. Proteins for WFDC8 

    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--

    WFDC8 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

    3 InterPro protein domains:
     IPR002223 Prot_inh_Kunz-m
     IPR008197 WAP-type_4-diS_core
     IPR020901 Prtase_inh_Kunz-CS

    Graphical View of Domain Structure for InterPro Entry Q8IUA0

    ProtoNet protein and cluster: Q8IUA0

    2 Blocks protein domains:
    IPB002223 Pancreatic trypsin inhibitor (Kunitz)
    IPB008197 4-disulphide core signature


    UniProtKB/Swiss-Prot: WFDC8_HUMAN, Q8IUA0
    Similarity: Contains 1 BPTI/Kunitz inhibitor domain
    Similarity: Contains 3 WAP domains


    WFDC8 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

         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 IEA--
    GO:0030414peptidase inhibitor activity ----
         
    WFDC8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for WFDC8:
     Decreased melanin production 

    Animal Models:
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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 WFDC8

    (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 WFDC8

    Search CenterWatch for drugs/clinical trials and news about WFDC8

    (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,
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    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 WFDC8 gene (2 alternative transcripts): 
    NM_130896.2  NM_181510.2  

    Unigene Cluster for WFDC8:

    WAP four-disulfide core domain 8
    Hs.116128  [show with all ESTs]
    Unigene Representative Sequence: NM_181510
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357199(uc002xow.3) ENST00000289953(uc002xox.3)
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate WFDC8:
    hsa-miR-3163 hsa-miR-3682-3p
    SwitchGear 3'UTR luciferase reporter plasmidWFDC8 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WFDC8
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    Additional mRNA sequence: 

    AF492015.1 AF492016.1 AL591715.1 

    3 DOTS entries:

    DT.100010346  DT.100010347  DT.92421145 

    24/25 AceView cDNA sequences (see all 25):

    AL591715 AL133571 AL449565 AL449558 AA885204 NM_130896 AL449579 NM_181510 
    AL449578 AF492015 AF492016 BX105539 AI208729 AA626150 AL449581 AL449564 
    AL449577 AL449592 AL449587 AL449593 AL449589 AL449560 AL449583 AL449591 

    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

    WFDC8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    WFDC8 Expression
    About this image


    See WFDC8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WFDC8

    SOURCE GeneReport for Unigene cluster: Hs.116128

    UniProtKB/Swiss-Prot: WFDC8_HUMAN, Q8IUA0
    Tissue specificity: Expressed ubiquitously, the highest levels are found in the epididymis followed by testis and
    trachea

        SABiosciences Custom PCR Arrays for WFDC8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WFDC8

    (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 animals.

    Orthologs for WFDC8 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wfdc81 , 5 WAP four-disulfide core domain 81, 5 67.4(n)1
    60.53(a)1
      2 (85.22 cM)5
    2773431  NM_001080550.11  NP_001074019.11 
     1645964585 
    chicken
    (Gallus gallus)
    Aves WFDC81 WAP four-disulfide core domain 8 47.29(n)
    36.95(a)
      419301  XM_417473.3  XP_417473.3 
    lizard
    (Anolis carolinensis)
    Reptilia WFDC66
    WFDC86
    WAP four-disulfide core domain 8
    19(a)
    11(a)
    possible ortholog
    1 ↔ 1
    GL343413.1(483330-490764)
    GL344343.1(452-3492)
    worm
    (Caenorhabditis elegans)
    Secernentea R12A1.36
    Protein R12A1.3
    15(a)
    1 → many
    V(1422796-1425717)


    ENSEMBL Gene Tree for WFDC8 (if available)
    TreeFam Gene Tree for WFDC8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for WFDC8 gene
    WFDC62  EPPIN2  EPPIN-WFDC62  
    6 SIMAP similar genes for WFDC8 using alignment to 1 protein entry:     WFDC8_HUMAN:
    SPINT3    WFDC12    ITIL    EPPIN    SPINT4    TFPI2

    WFDC8 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

    10/798 SNPs in WFDC8 are shown (see all 798)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs9884621,2
    C,F,O,A,H--44179299(-) CTAACT/CATTCA 1 -- ds5001110Minor allele frequency- C:0.19NS MN EA NA PA EU CA WA CSA 7040
    rs1808968581,2
    --44179364(+) AGATAC/TAAAAG 1 -- ds50010--------
    rs1843437291,2
    --44179431(+) AAAATG/TGATCA 1 -- ds50010--------
    rs61042141,2
    C,F,A--44179521(+) aattaC/Ttaaaa 1 -- ds50019Minor allele frequency- T:0.29NA WA CSA EA 368
    rs783355561,2
    C,F--44179553(+) ATCTAG/AATGCT 1 -- ds50011Minor allele frequency- A:0.06EA 120
    rs2009693561,2
    C--44179704(+) AAAAA-/AAATTT 1 -- ds50010--------
    rs1463105871,2
    --44179944(+) TAGTAA/GCTATA 2 -- ds5001 ut310--------
    rs1484999881,2
    C--44179991(+) GCCAGA/GCACAG 2 -- ds5001 ut310--------
    rs48129101,2
    C,F,A--44180026(+) ctttcT/Ggaggc 2 -- ds5001 ut31 ese34Minor allele frequency- G:0.43NA WA CSA 7
    rs48129111,2
    C,F,A--44180074(+) ccagcC/Ttggcc 2 -- ds5001 ut314Minor allele frequency- T:0.43NA WA CSA 7

    HapMap Linkage Disequilibrium report for WFDC8 (44179791 - 44207965 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for WFDC8:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2722448CNV Deletion23290073
    esv2661076CNV Deletion23128226
    esv32588CNV Loss17666407
    esv25639CNV Loss19812545
    nsv819057CNV Gain19587683

    SABiosciences Cancer Mutation PCR Assays
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    (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
    2 diseases for WFDC8:    About MalaCards
    pancreatitis    


    WFDC8 for disorders           About GeneDecksing


    Export disorders for WFDC8 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 WFDC8 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with WFDC8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein. (PubMed id 12206714)1, 2, 3 Clauss A.... Lundwall A. (2002)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    3. Why do cellular proteins linked to K63-polyubiquitin c hains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (2013)
    4. Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans. (PubMed id 21536719)1 Ferreira Z....Seixas S. (2011)
    5. The evolution of a genetic locus encoding small serine proteinase inhibitors. (PubMed id 15950183)1 Clauss A....Lundwall A. (2005)

    (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: 90199 HGNC: 16163 AceView: WFDC8 Ensembl:ENSG00000158901 euGenes: HUgn90199
    ECgene: WFDC8 H-InvDB: WFDC8

    (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 WFDC8 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 WFDC8 gene:
    Search GeneIP for patents involving WFDC8

    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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