WFDC2

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WFDC2
Identifiers
AliasesWFDC2, EDDM4, HE4, WAP5, dJ461P17.6, WAP four-disulfide core domain 2
External IDsMGI: 1914951 HomoloGene: 4450 GeneCards: WFDC2
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for WFDC2
Genomic location for WFDC2
Band20q13.12Start45,469,706 bp[1]
End45,481,532 bp[1]
RNA expression pattern
PBB GE WFDC2 203892 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006103
NM_080733
NM_080734
NM_080735
NM_080736

NM_026323

RefSeq (protein)

NP_006094

NP_080599

Location (UCSC)Chr 20: 45.47 – 45.48 MbChr 2: 164.56 – 164.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

HE4 is a tumor marker of ovarian cancer, with 80% sensitivity at a cut-off of 150 pmol/L.[9]

Function[edit]

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.[5] The encoded protein is a small secretory protein, which may be involved in sperm maturation.[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101443 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000017723 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b 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. ^ a b "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[edit]