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    WFDC3 WAP four-disulfide core domain 3 [ Homo sapiens (human) ]

    Gene ID: 140686, updated on 2-Nov-2024

    Summary

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    Official Symbol
    WFDC3provided by HGNC
    Official Full Name
    WAP four-disulfide core domain 3provided by HGNC
    Primary source
    HGNC:HGNC:15957
    See related
    Ensembl:ENSG00000124116 AllianceGenome:HGNC:15957
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WAP14; dJ447F3.3
    Summary
    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 four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 19.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See WFDC3 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45774213..45791883, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47510745..47528411, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44402852..44420522, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene serine peptidase inhibitor, Kunitz type 5, pseudogene Neighboring gene uncharacterized LOC124904915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44391506-44392438 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:44393372-44394304 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:44394305-44395236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44399706-44400299 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44400300-44400892 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60389 Neighboring gene Sharpr-MPRA regulatory region 12827 Neighboring gene RNA, U6atac small nuclear 38, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44408579-44409079 Neighboring gene Sharpr-MPRA regulatory region 6194 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12961 Neighboring gene deoxynucleotidyltransferase terminal interacting protein 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12962 Neighboring gene ubiquitin conjugating enzyme E2 C

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. High WFDC3 gene expression is associated with poor prognosis and reduced immune cells infiltration in pancreatic adenocarcinoma: A study using the TCGA database and bioinformatics analysis. Wu W, et al. Medicine (Baltimore), 2023 Oct 20. PMID 37861515, Free PMC Article
    2. The whey acidic protein family: a new signature motif and three-dimensional structure by comparative modeling. Ranganathan S, et al. J Mol Graph Model, 1999 Apr. PMID 10680116
    3. Reproduction and immunity-driven natural selection in the human WFDC locus. Ferreira Z, et al. Mol Biol Evol, 2013 Apr. PMID 23292442, Free PMC Article
    4. A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein. Clauss A, et al. Biochem J, 2002 Nov 15. PMID 12206714, Free PMC Article
    5. The evolution of a genetic locus encoding small serine proteinase inhibitors. Clauss A, et al. Biochem Biophys Res Commun, 2005 Jul 29. PMID 15950183, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High WFDC3 gene expression is associated with poor prognosis and reduced immune cells infiltration in pancreatic adenocarcinoma: A study using the TCGA database and bioinformatics analysis.
      Title: High WFDC3 gene expression is associated with poor prognosis and reduced immune cells infiltration in pancreatic adenocarcinoma: A study using the TCGA database and bioinformatics analysis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in antibacterial humoral response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    WAP four-disulfide core domain protein 3
    Names
    protease inhibitor WAP14
    putative protease inhibitor WAP14
    whey acidic protein 14

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_080614.2 → NP_542181.1  WAP four-disulfide core domain protein 3 precursor

      See identical proteins and their annotated locations for NP_542181.1

      Status: REVIEWED

      Source sequence(s)
      AL050348
      Consensus CDS
      CCDS33478.1
      UniProtKB/Swiss-Prot
      A6PVF2, Q0P6A5, Q3T1C5, Q8IUB2, Q8TC52, Q9BQP3, Q9BQP4
      UniProtKB/TrEMBL
      H0Y2V5
      Related
      ENSP00000243938.4, ENST00000243938.9
      Conserved Domains (1) summary
      pfam00095
      Location:168 → 206
      WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      45774213..45791883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528553.3 → XP_011526855.1  WAP four-disulfide core domain protein 3 isoform X1

      UniProtKB/TrEMBL
      H0Y2V5
      Conserved Domains (1) summary
      pfam00095
      Location:174 → 212
      WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47510745..47528411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323003.1 → XP_054178978.1  WAP four-disulfide core domain protein 3 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_181522.1: Suppressed sequence

      Description
      NM_181522.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_181525.1: Suppressed sequence

      Description
      NM_181525.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    3. NM_181530.1: Suppressed sequence

      Description
      NM_181530.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IUB2.1 GenPept UniProtKB/Swiss-Prot:Q8IUB2

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