WFDC2

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

WAP four-disulfide core domain protein 2 - also known as Human Epididymis Protein 4[5] (HE4) - is a protein that in humans is encoded by the WFDC2 gene.[6][7][8]

AliasesWFDC2, EDDM4, HE4, WAP5, dJ461P17.6, WAP four-disulfide core domain 2
End45,481,532 bp[1]
Quick facts Identifiers, Aliases ...
WFDC2
Identifiers
AliasesWFDC2, EDDM4, HE4, WAP5, dJ461P17.6, WAP four-disulfide core domain 2
External IDsOMIM: 617548; MGI: 1914951; HomoloGene: 4450; GeneCards: WFDC2; OMA:WFDC2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006103
NM_080733
NM_080734
NM_080735
NM_080736

NM_026323
NM_001374655

RefSeq (protein)

NP_006094

NP_080599
NP_001361584

Location (UCSC)Chr 20: 45.47 – 45.48 MbChr 2: 164.4 – 164.41 Mb
PubMed search[3][4]
Wikidata
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HE4 is a tumor marker of ovarian cancer, with 80% sensitivity and 99% specificity at a cut-off of 150 pmol/L.[9]

Function

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 among other tissues, and was also found to be expressed in some ovarian cancers.[5] The encoded protein is a small secretory protein, which may be involved in sperm maturation.[8]

References

Further reading

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