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WFDC2

Chr 20q13.12

WAP four-disulfide core domain 2

Aliases:
HE4, WAP5, dJ461P17.6, EDDM4
MANE:
ENST00000372676.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal
  • Primary ciliary disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • bronchiectasis and nasal polyposis

    0.37
  • ovarian carcinoma

    0.13
  • lung carcinoma

    0.12
  • lung cancer

    0.12
  • idiopathic pulmonary fibrosis

    0.12
  • ovarian cancer

    0.12
  • interstitial lung disease

    0.11
  • endometrial cancer

    0.11
  • chronic kidney disease

    0.11
  • neoplasm

    0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

WAP four-disulfide core domain protein 2

Plays a critical role in lung development (By similarity). Required for terminal differentiation of bronchiole club cells (By similarity). Required for development of airway barrier mechanisms, such as lamellar body formation in type II alveolar epithelial cells and cilia formation on ciliated epithelial cells following initiation of respiration at birth (By similarity). Required for type I alveolar epithelial cell and vascular endothelial development in the lungs, thereby mediating blood-air barrier exchange (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.