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WFDC8 Gene

protein-coding   GIFtS: 41
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   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 Chromatin IP Primers for WFDC8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., 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: WFDC8_HUMAN, Q8IUA0 (See protein sequence)
Recommended Name: WAP four-disulfide core domain protein 8 precursor  
Size: 241 amino acids; 27824 Da
Secondary accessions: E1P623 Q5TDV2 Q96A34

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

Explore proteomics data for WFDC8 at MOPED


See WFDC8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_570966.2  NP_852611.2  

ENSEMBL proteins: 
 ENSP00000361735   ENSP00000289953  

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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

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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 2 molecular function terms:    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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(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
WFDC8_HUMAN, Q8IUA0: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
cytosol1
mitochondrion1

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

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

WFDC8 for ontologies           About GeneDecksing


(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 WFDC8
Interactions:

    Search GeneGlobe Interaction Network for WFDC8

(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 Tocris compounds for 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,
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, Primers from OriGene, and/or QIAGEN )
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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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hsa-miR-3163 hsa-miR-3682-3p
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Additional mRNA sequence: 

AF492015.1 AF492016.1 AL591715.1 

3 DOTS entries:

DT.100010346  DT.100010347  DT.92421145 

Selected AceView cDNA sequences (see all 25):

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

WFDC8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

WFDC8 Protein Expression

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

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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 animals.

Orthologs for WFDC8 gene from Selected species (see all 10)    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 67.63(n)1
61.84(a)1
  2 (85.22 cM)5
2773431  NM_001080550.21  NP_001074019.11 
 1645964585 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
27(a)
26(a)
many ↔ many
many ↔ many
GL344854.1(11157-16565)
GL344356.1(47896-55721)
fruit fly
(Drosophila melanogaster)
Insecta CG36046
--
22(a)
1 → many
2L(3697242-3697872)
worm
(Caenorhabditis elegans)
Secernentea R12A1.36
Protein R12A1.3 (R12A1.3) mRNA, complete cds
20(a)
1 → many
V(1422796-1425717) WBGene00020017


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)
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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), 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 WFDC8 (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

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(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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1 disease 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)
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PubMed articles for WFDC8 gene integrated from 10 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. (Biochem. J. 2002)
  2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  3. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 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. (Mol. Biol. Evol. 2011)
  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)

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

(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 WFDC8 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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

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