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    WFDC2 WAP four-disulfide core domain 2 [ Homo sapiens (human) ]

    Gene ID: 10406, updated on 27-Nov-2024

    Summary

    Official Symbol
    WFDC2provided by HGNC
    Official Full Name
    WAP four-disulfide core domain 2provided by HGNC
    Primary source
    HGNC:HGNC:15939
    See related
    Ensembl:ENSG00000101443 MIM:617548; AllianceGenome:HGNC:15939
    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
    HE4; BENP; WAP5; EDDM4; dJ461P17.6
    Summary
    This gene encodes a protein that is a member of the 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 in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in salivary gland (RPKM 317.9), endometrium (RPKM 117.3) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See WFDC2 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45469753..45481532)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47205608..47217387)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44098393..44110172)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372631 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class T Neighboring gene microRNA 6812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12959 Neighboring gene uncharacterized LOC107987282 Neighboring gene ribosomal protein L5 pseudogene 2 Neighboring gene serine peptidase inhibitor, Kunitz type 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Voxelwise genome-wide association study (vGWAS).
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC57529

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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 proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in spermatogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    WAP four-disulfide core domain protein 2
    Names
    WAP domain containing protein HE4-V4
    epididymal protein 4
    epididymal secretory protein E4
    epididymis secretory sperm binding protein
    epididymis-specific, whey-acidic protein type, four-disulfide core
    human epididymis protein 4
    major epididymis-specific protein E4
    putative protease inhibitor WAP5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_006103.4NP_006094.3  WAP four-disulfide core domain protein 2 precursor

      See identical proteins and their annotated locations for NP_006094.3

      Status: REVIEWED

      Source sequence(s)
      AL031663, BI759775, X63187
      Consensus CDS
      CCDS35501.1
      UniProtKB/Swiss-Prot
      A2A2A5, A2A2A6, A6PVD5, Q14508, Q6IB27, Q8WXV9, Q8WXW0, Q8WXW1, Q8WXW2, Q96KJ1
      UniProtKB/TrEMBL
      A0A384MTN6
      Related
      ENSP00000361761.3, ENST00000372676.8
      Conserved Domains (2) summary
      smart00217
      Location:76123
      WAP; Four-disulfide core domains
      pfam00095
      Location:3273
      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
      45469753..45481532
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47205608..47217387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_080733.1: Suppressed sequence

      Description
      NM_080733.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_080734.1: Suppressed sequence

      Description
      NM_080734.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    3. NM_080735.1: Suppressed sequence

      Description
      NM_080735.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    4. NM_080736.1: Suppressed sequence

      Description
      NM_080736.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.