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WNT5A

Chr 3p14.3

Wnt family member 5A

Aliases:
hWNT5A
MANE:
ENST00000264634.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Clefting

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Limb disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Skeletal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • CAKUT

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • Robinow syndrome

    0.71
  • autosomal dominant Robinow syndrome

    0.70
  • nephrolithiasis

    0.37
  • gram-negative bacterial infections

    0.32
  • Hernia

    0.32
  • liver disorder

    0.32
  • glomerulonephritis

    0.28
  • brain cancer

    0.27
  • leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome

    0.27
  • ureterolithiasis

    0.26

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

Protein function (UniProt)

Protein Wnt-5a

Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decreases proliferation, migration, invasiveness and clonogenicity of carcinoma cells and may act as a tumor suppressor (PubMed:15735754). Mediates motility of melanoma cells (PubMed:17426020). Required during embryogenesis for extension of the primary anterior-posterior axis and for outgrowth of limbs and the genital tubercle. Inhibits type II collagen expression in chondrocytes (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.