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WNT4

Chr 1p36.12

Wnt family member 4

Aliases:
WNT-4
MANE:
ENST00000290167.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Fetal anomalies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Intellectual disability

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • mullerian aplasia and hyperandrogenism

    0.71
  • SERKAL syndrome

    0.66
  • Mayer-Rokitansky-Küster-Hauser syndrome

    0.47
  • uterine corpus leiomyoma

    0.44
  • endometriosis

    0.41
  • Abnormality of the skeletal system

    0.39
  • Mayer-Rokitansky-Küster-Hauser syndrome type 2

    0.38
  • MURCS association

    0.38
  • pelvic organ prolapse

    0.37
  • colorectal cancer

    0.35

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

Protein function (UniProt)

Protein Wnt-4

Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Plays an important role in the embryonic development of the urogenital tract and the lung (PubMed:15317892, PubMed:16959810, PubMed:18179883, PubMed:18182450). Required for normal mesenchyme to epithelium transition during embryonic kidney development. Required for the formation of early epithelial renal vesicles during kidney development (By similarity). Required for normal formation of the Mullerian duct in females, and normal levels of oocytes in the ovaries (PubMed:15317892, PubMed:16959810, PubMed:18182450). Required for normal down-regulation of 3 beta-hydroxysteroid dehydrogenase in the ovary (PubMed:15317892, PubMed:16959810, PubMed:18182450). Required for normal lung development and for normal patterning of trachael cartilage rings (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.