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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

WFDC6 Gene

protein-coding GIFtS: 36
GCID: GC20M044162

WAP four-disulfide core domain 6

(Previous name: chromosome 20 open reading frame 171 )
(Previous symbol: C20orf171)

Explore 1 disease affiliated with
WFDC6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
WAP Four-Disulfide Core Domain 6¹ ²		Chromosome 20 Open Reading Frame 171¹
C20orf171¹ ² ³		Protease Inhibitor WAP6²
WAP6¹ ² ³		WAP Four-Disulfide Core Domain Protein 6²
DJ461P17.11¹		Putative Protease Inhibitor WAP6³

External Ids:	HGNC: 16164¹	Entrez Gene: 140870²	Ensembl: ENSG00000243543⁷	UniProtKB: Q9BQY6³

Export aliases for WFDC6 gene to outside databases

Previous GC identifers: GC20M043851 GC20M044801 GC20M044848 GC20M043596 GC20M040904

(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 WFDC6:

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 telomeric cluster. Read-through transcription exists between this gene and the upstream

SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) gene. (provided by RefSeq, Nov 2010)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the WFDC6 gene promoter:
Nkx3-1 ISGF-3 Nkx3-1 v4 p53 Nkx3-1 v1 C/EBPalpha Nkx3-1 v2 AREB6 Ik-2 Nkx3-1 v3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: WFDC6 promoter sequence

Search SABiosciences Chromatin IP Primers for WFDC6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WFDC6

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

WFDC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WFDC6 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M044162: view genomic region (about GC identifiers)

Start:	44,162,835 bp from pter	End:	44,168,134 bp from pter
Size:	5,300 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
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About This Section

UniProtKB/Swiss-Prot: WFDC6_HUMAN, Q9BQY6 (See protein sequence)

Recommended Name: WAP four-disulfide core domain protein 6 precursor

Size: 131 amino acids; 14626 Da

Subcellular location: Secreted (Potential)

Secondary accessions: Q3MJ23 Q5JYQ4 Q8NFV6

Alternative splicing: 3 isoforms: Q9BQY6-1 Q9BQY6-2 O95925-3 (Based on a readthrough transcript which may produce a EPPIN-WFDC6 fusion protein. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WFDC6: NX_Q9BQY6

WFDC6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_543017.1

ENSEMBL proteins:

ENSP00000361755 ENSP00000361750

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

WFDC6 for ontologies About GeneDecksing

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

WFDC6 for domains About GeneDecksing

2 InterPro domains/families:

IPR002223 Prot_inh_Kunz-m

IPR008197 Whey_acidic_protein_4-diS_core

Graphical View of Domain Structure for InterPro Entry Q9BQY6

ProtoNet protein and cluster: Q9BQY6

1 Blocks protein family: IPB002223 Pancreatic trypsin inhibitor (Kunitz)

UniProtKB/Swiss-Prot: WFDC6_HUMAN, Q9BQY6

Similarity: Contains 1 BPTI/Kunitz inhibitor domain

Similarity: Contains 1 WAP domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	--

WFDC6 for ontologies About GeneDecksing

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for WFDC6

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for WFDC6 gene:

NM_080827.1

Unigene Cluster for WFDC6:

WAP four-disulfide core domain 6

Hs.673237 [show with all ESTs]

Unigene Representative Sequence: NM_080827

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372670(uc002xos.1) ENST00000372665

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Additional cDNA sequence:

AF411861.1 BC101600.1 BC101604.1

2 DOTS entries:

DT.99997457 DT.92416904

24/54 AceView cDNA sequences (see all 54):

NM_181502 AL118493 AI633364 NM_080827 AF286368 AF286369 AF286370 AF411861

AK126022 NM_020398 BX094264 AI023486 AL449632 AA719397 AI648695 BC044829

AA452055 BC053369 AI374968 BI828181 AX810710 AW449129 AA451856 AL449631

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

WFDC6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGTGTTGCC

About this image
See WFDC6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for WFDC6

SOURCE GeneReport for Unigene cluster: Hs.673237

UniProtKB/Swiss-Prot: WFDC6_HUMAN, Q9BQY6

Tissue specificity: Ubiquitously expressed, but the highest levels are found in epididymis, testis and trachea

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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)
About This Section

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

Orthologs for WFDC6 gene from 1 species (see representative species ) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Wfdc6b⁵	WAP four-disulfide core domain 6B	--		2 (85.22 cM) 164613522

ENSEMBL Gene Tree for WFDC6 (if available)
TreeFam Gene Tree for WFDC6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs148144129^1,2		--	44162354(+)	`CCTGGC/GTTCAA`	1	--	ds500¹		0	--	--	--	--
rs180957489^1,2		--	44162364(+)	`AACAAC/TTCTCC`	1	--	ds500¹		0	--	--	--	--
rs73619224^1,2	C	--	44162390(+)	`AGTAGC/TTGGGA`	1	--	ds500¹		0	--	--	--	--
rs2143224^1,2	C,F	--	44162485(+)	`ACTCCC/TGACCT`	1	--	ds500¹		8		NA WA CSA	14
rs2143225^1,2	C,F,A	--	44162500(+)	`TGATCT/CGCCCT`	1	--	ds500¹		8		NA WA CSA	14
rs184178379^1,2		--	44162537(+)	`ACAGGC/TGTGAG`	1	--	ds500¹		0	--	--	--	--
rs189849787^1,2		--	44162613(+)	`AAATCC/TGGATC`	1	--	ds500¹		0	--	--	--	--
rs7264006^1,2	C,F,H	--	44162764(+)	`AAATTG/TCATAT`	1	--	ds500¹		13		NS EA NA WA	1520
rs3746593^1,2	C,F,H	--	44162849(+)	`ACAGAG/ACACTT`	1	--	ut3¹		20		EA NS NA WA	3836
rs139015222^1,2		--	44162883(+)	`TACAAA/TTAAAT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for WFDC6 (44162835 - 44168134 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for WFDC6: --

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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.)
About This Section

WFDC6 for disorders About GeneDecksing

1 disease for WFDC6: About MalaCards

pancreatitis

Export disorders for WFDC6 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 WFDC6 gene integrated from 9 sources:
(articles sorted by number of sources associating them with WFDC6)

Utopia: connect your pdf to the dynamic
world of online information

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)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
The evolution of a genetic locus encoding small serine proteinase inhibitors. (PubMed id 15950183)¹ Clauss A....Lundwall A. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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: 140870	HGNC: 16164	AceView: SPINLW1andWFDC6	Ensembl:ENSG00000243543	euGenes: HUgn140870
ECgene: WFDC6	H-InvDB: WFDC6

(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

Name	Description
PharmGKB entry for WFDC6	Pharmacogenomics, SNPs, Pathways

Intellectual Property for WFDC6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for WFDC6 gene:
Search GeneIP for patents involving WFDC6

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

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes WFDC6 gene at Home site.

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WFDC6 Gene

WAP four-disulfide core domain 6

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WFDC6 Gene

WAP four-disulfide core domain 6

Aliasesfor WFDC6 gene

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Genomic Viewsfor WFDC6 gene

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