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DVL2

Chr 17p13.1

dishevelled segment polarity protein 2

MANE:
ENST00000005340.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Skeletal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Limb disorders

  • Monogenic hearing loss

Disease associations (Open Targets)

  • Robinow syndrome

    0.43
  • pelvic organ prolapse

    0.11
  • hepatocellular carcinoma

    0.10
  • colorectal carcinoma

    0.09
  • breast cancer

    0.08
  • breast carcinoma

    0.08
  • rheumatoid arthritis

    0.08
  • colonic neoplasm

    0.07
  • glioblastoma

    0.07
  • malignant colon neoplasm

    0.07

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

Protein function (UniProt)

Segment polarity protein dishevelled homolog DVL-2

Plays a role in the signal transduction pathways mediated by multiple Wnt genes (PubMed:24616100). Participates both in canonical and non-canonical Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling

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.