WFDC2

Last updated
WFDC2
Identifiers
Aliases WFDC2 , EDDM4, HE4, WAP5, dJ461P17.6, WAP four-disulfide core domain 2
External IDs OMIM: 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 Mb Chr 2: 164.4 – 164.41 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Contents

HE4 is a tumor marker of ovarian cancer, with 80% sensitivity 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]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000101443 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000017723 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 Hellström I, Raycraft J, Hayden-Ledbetter M, Ledbetter JA, Schummer M, McIntosh M, Drescher C, Urban N, Hellström KE (2003-07-01). "The HE4 (WFDC2) Protein Is a Biomarker for Ovarian Carcinoma". Cancer Research. 63 (13): 3695–3700. PMID   12839961 . Retrieved 2012-11-28.
  6. Kirchhoff C, Habben I, Ivell R, Krull N (Mar 1992). "A major human epididymis-specific cDNA encodes a protein with sequence homology to extracellular proteinase inhibitors". Biol Reprod. 45 (2): 350–7. doi:10.1095/biolreprod45.2.350. PMID   1686187.
  7. Schummer M, Ng WV, Bumgarner RE, Nelson PS, Schummer B, Bednarski DW, Hassell L, Baldwin RL, Karlan BY, Hood L (Dec 1999). "Comparative hybridization of an array of 21,500 ovarian cDNAs for the discovery of genes overexpressed in ovarian carcinomas". Gene. 238 (2): 375–85. doi:10.1016/S0378-1119(99)00342-X. PMID   10570965.
  8. 1 2 "Entrez Gene: WFDC2 WAP four-disulfide core domain 2".
  9. Molina R, Escudero JM, Augé JM, Filella X, Foj L, Torné A, Lejarcegui J, Pahisa J (2011). "HE4 a novel tumour marker for ovarian cancer: Comparison with CA 125 and ROMA algorithm in patients with gynaecological diseases". Tumor Biology. 32 (6): 1087–95. doi:10.1007/s13277-011-0204-3. PMC   3195682 . PMID   21863264.

Further reading