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    WFDC10B WAP four-disulfide core domain 10B [ Homo sapiens (human) ]

    Gene ID: 280664, updated on 28-Oct-2024

    Summary

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    Official Symbol
    WFDC10Bprovided by HGNC
    Official Full Name
    WAP four-disulfide core domain 10Bprovided by HGNC
    Primary source
    HGNC:HGNC:20479
    See related
    Ensembl:ENSG00000182931 AllianceGenome:HGNC:20479
    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
    WAP12
    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. Most WFDC gene members 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 distinct isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See WFDC10B 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 (45684651..45705019, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47420925..47441293, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44313290..44333658, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 7 Neighboring gene WAP four-disulfide core domain 11 Neighboring gene WAP four-disulfide core domain 13 Neighboring gene microRNA 3617 Neighboring gene serine peptidase inhibitor, Kunitz type 4

    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. 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
    2. 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
    3. 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
    4. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    		  
    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
    protein WFDC10B
    Names
    protease inhibitor WAP12

    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_172006.2 → NP_742003.1  protein WFDC10B isoform a precursor

      See identical proteins and their annotated locations for NP_742003.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript but it encodes the shorter isoform (a), which includes a signal peptide and is a secreted protein.
      Source sequence(s)
      AL031671, AL109656
      Consensus CDS
      CCDS13366.1
      UniProtKB/Swiss-Prot
      A6PVD7, Q0VAG0, Q0VAG1, Q5TGZ5, Q8IUB3, Q8IUB4
      Related
      ENSP00000327628.5, ENST00000330523.10

    2. NM_172131.2 → NP_742143.1  protein WFDC10B isoform b

      See identical proteins and their annotated locations for NP_742143.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon and uses an upstream translation start codon, as compared to variant 1. It encodes the longer isoform (b), which lacks a signal peptide and may be an intracellular protein.
      Source sequence(s)
      AL031671, AL109656
      Consensus CDS
      CCDS13365.1
      UniProtKB/Swiss-Prot
      Q8IUB3
      Related
      ENSP00000337466.2, ENST00000335769.2

    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
      45684651..45705019 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47420925..47441293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IUB3.2 GenPept UniProtKB/Swiss-Prot:Q8IUB3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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