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Aliases for WFDC12 Gene

Aliases for WFDC12 Gene

  • WAP Four-Disulfide Core Domain 12 2 3 5
  • Putative Protease Inhibitor WAP12 3 4
  • Whey Acidic Protein 2 3 4
  • C20orf122 3 4
  • WAP2 3 4
  • WAP Four-Disulfide Core Domain Protein 12 3
  • Chromosome 20 Open Reading Frame 122 2
  • Single WAP Motif Protein 2 3
  • Protease Inhibitor WAP2 3
  • DJ211D12.4 3
  • SWAM2 3

External Ids for WFDC12 Gene

Previous HGNC Symbols for WFDC12 Gene

  • C20orf122

Previous GeneCards Identifiers for WFDC12 Gene

  • GC20M043440
  • GC20M044390
  • GC20M044437
  • GC20M043185
  • GC20M043752
  • GC20M040493

Summaries for WFDC12 Gene

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 Autosomal Recessive Congenital Ichthyosis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity.

UniProtKB/Swiss-Prot for WFDC12 Gene

  • Antibacterial protein. Putative acid-stable proteinase inhibitor.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WFDC12 Gene

Genomics for WFDC12 Gene

Regulatory Elements for WFDC12 Gene

Enhancers for WFDC12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G045334 2 FANTOM5 Ensembl ENCODE dbSUPER 4.9 -217.6 -217616 14.4 MLX ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC SSRP1 GLIS1 RCOR2 NCOA5 PCIF1 ZNF335 ZSWIM1 CD40 SPATA25 DBNDD2 SYS1-DBNDD2 SYS1 PIGT
GH20G045043 1.2 Ensembl ENCODE dbSUPER 5.3 +80.2 80161 1.2 ELF3 CTCF RAD21 RFX5 TEAD3 FOXM1 ZNF143 SMC3 FOS SMARCA5 KCNS1 WFDC5 STK4 WFDC12 PIR48188 ENSG00000252021
GH20G045110 0.7 dbSUPER 7.7 +12.9 12926 1.6 CTCF FOXA2 ZIC2 RAD21 YY1 ZNF507 SMC3 PCBP1 NR2F6 MIXL1 SLPI WFDC12 KCNS1 WFDC5
GH20G045293 1.2 Ensembl ENCODE 4.4 -169.3 -169261 1.5 ATF1 CREB3L1 SIN3A ZNF143 DEK SMARCB1 SSRP1 MIER3 SMARCA4 MXD3 SLPI WFDC5 RNU6ATAC38P WFDC12 RBPJL
GH20G045319 1.1 Ensembl ENCODE 4.4 -195.1 -195124 0.9 HDAC1 CTCF CEBPG ZIC2 RAD21 RFX5 ZNF664 FOXM1 GATA4 ARID3A PIGT ENSG00000237464 RNU6ATAC38P DNTTIP1 WFDC3 WFDC12 TRV-CAC14-1 PIR62059
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WFDC12 on UCSC Golden Path with GeneCards custom track

Genomic Location for WFDC12 Gene

Chromosome:
20
Start:
45,123,425 bp from pter
End:
45,124,465 bp from pter
Size:
1,041 bases
Orientation:
Minus strand

Genomic View for WFDC12 Gene

Genes around WFDC12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WFDC12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WFDC12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WFDC12 Gene

Proteins for WFDC12 Gene

  • Protein details for WFDC12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWY7-WFD12_HUMAN
    Recommended name:
    WAP four-disulfide core domain protein 12
    Protein Accession:
    Q8WWY7
    Secondary Accessions:
    • Q5H980
    • Q9BR31

    Protein attributes for WFDC12 Gene

    Size:
    111 amino acids
    Molecular mass:
    12050 Da
    Quaternary structure:
    No Data Available

neXtProt entry for WFDC12 Gene

Post-translational modifications for WFDC12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WFDC12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WFDC12 Gene

Domains & Families for WFDC12 Gene

Gene Families for WFDC12 Gene

Protein Domains for WFDC12 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for WFDC12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with WFDC12: view

No data available for UniProtKB/Swiss-Prot for WFDC12 Gene

Function for WFDC12 Gene

Molecular function for WFDC12 Gene

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

Gene Ontology (GO) - Molecular Function for WFDC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity NAS 11779191
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with WFDC12: view
genes like me logo Genes that share phenotypes with WFDC12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for WFDC12

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for WFDC12 Gene

Localization for WFDC12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WFDC12 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WFDC12 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for WFDC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with WFDC12: view

Pathways & Interactions for WFDC12 Gene

SuperPathways for WFDC12 Gene

No Data Available

Interacting Proteins for WFDC12 Gene

Gene Ontology (GO) - Biological Process for WFDC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0042742 defense response to bacterium ISS --
genes like me logo Genes that share ontologies with WFDC12: view

No data available for Pathways by source and SIGNOR curated interactions for WFDC12 Gene

Drugs & Compounds for WFDC12 Gene

No Compound Related Data Available

Transcripts for WFDC12 Gene

mRNA/cDNA for WFDC12 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for WFDC12 Gene

WAP four-disulfide core domain 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WFDC12 Gene

No ASD Table

Relevant External Links for WFDC12 Gene

GeneLoc Exon Structure for
WFDC12
ECgene alternative splicing isoforms for
WFDC12

Expression for WFDC12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WFDC12 Gene

mRNA differential expression in normal tissues according to GTEx for WFDC12 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x19.3), Vagina (x13.0), Skin - Not Sun Exposed (Suprapubic) (x9.2), and Esophagus - Mucosa (x6.9).

Protein differential expression in normal tissues from HIPED for WFDC12 Gene

This gene is overexpressed in Skin (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for WFDC12 Gene



Protein tissue co-expression partners for WFDC12 Gene

NURSA nuclear receptor signaling pathways regulating expression of WFDC12 Gene:

WFDC12

SOURCE GeneReport for Unigene cluster for WFDC12 Gene:

Hs.352180

mRNA Expression by UniProt/SwissProt for WFDC12 Gene:

Q8WWY7-WFD12_HUMAN
Tissue specificity: Highly expressed in prostate, skin, lung and esophagus. Weakly expressed in skeletal muscle, epididymis, kidney, trachea, salivary gland, testis and seminal vesicle.
genes like me logo Genes that share expression patterns with WFDC12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for WFDC12 Gene

Orthologs for WFDC12 Gene

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

Orthologs for WFDC12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WFDC12 35 34
  • 98.2 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wfdc12 35
  • 51 (a)
OneToOne
Species where no ortholog for WFDC12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for WFDC12 Gene

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

Paralogs for WFDC12 Gene

(3) SIMAP similar genes for WFDC12 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with WFDC12: view

No data available for Paralogs for WFDC12 Gene

Variants for WFDC12 Gene

Sequence variations from dbSNP and Humsavar for WFDC12 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000800677 -- 45,123,894(+) GCCTC(C/T)CATCC reference, stop-gained
rs1002096052 -- 45,123,018(+) AATGG(C/T)ACCCT downstream-variant-500B
rs1002763487 -- 45,126,055(+) GGATA(C/T)TCTTC upstream-variant-2KB
rs1004211802 -- 45,123,063(+) GAATC(A/G)ATTAT downstream-variant-500B
rs1006727141 -- 45,124,925(+) CCAAG(A/G/T)AAGAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for WFDC12 Gene

Variant ID Type Subtype PubMed ID
nsv1056102 CNV loss 25217958

Variation tolerance for WFDC12 Gene

Residual Variation Intolerance Score: 80.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WFDC12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WFDC12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WFDC12 Gene

Disorders for WFDC12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WFDC12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal recessive congenital ichthyosis
  • arci
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for WFDC12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WFDC12
genes like me logo Genes that share disorders with WFDC12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WFDC12 Gene

Publications for WFDC12 Gene

  1. Identification of a novel protease inhibitor gene that is highly expressed in the prostate. (PMID: 11779191) Lundwall A. … Clauss A. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 64
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  3. A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein. (PMID: 12206714) Clauss A. … Lundwall A. (Biochem. J. 2002) 2 3 64
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  5. Reproduction and immunity-driven natural selection in the human WFDC locus. (PMID: 23292442) Ferreira Z. … Hurle B. (Mol. Biol. Evol. 2013) 3 64

Products for WFDC12 Gene

Sources for WFDC12 Gene

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