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

Gene ID: 280664, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45684651..45705019, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47420925..47441293, complement)
105.20220307 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
  • 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_2023_10

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

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