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WNT3

Chr 17q21.31-q21.32

Wnt family member 3

Aliases:
MGC131950, MGC138321, MGC138323
MANE:
ENST00000225512.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Hydrocephalus

    BIALLELIC, autosomal or pseudoautosomal
  • Clefting

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal
  • VACTERL-like phenotypes

Disease associations (Open Targets)

  • neurodegenerative disease

    0.53
  • tetra-amelia

    0.51
  • Tetraamelia - multiple malformations

    0.50
  • tetraamelia-multiple malformations syndrome

    0.37
  • alcohol drinking

    0.36
  • atrial fibrillation

    0.36
  • Snoring

    0.35
  • Abnormality of the skeletal system

    0.33
  • Parkinson disease

    0.32
  • hypertensive disorder

    0.31

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

Protein function (UniProt)

Proto-oncogene Wnt-3

Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:26902720). Required for normal gastrulation, formation of the primitive streak, and for the formation of the mesoderm during early embryogenesis. Required for normal formation of the apical ectodermal ridge (By similarity). Required for normal embryonic development, and especially for limb development (PubMed:14872406)

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.