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LLGL2

Chr 17q25.1

LLGL scribble cell polarity complex component 2

Aliases:
HGL, Hugl-2
MANE:
ENST00000392550.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Inherited ovarian cancer (without breast cancer)

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • neurodegenerative disease

    0.44
  • neoplasm

    0.08
  • hepatocellular carcinoma

    0.08
  • breast cancer

    0.08
  • breast carcinoma

    0.08
  • ovarian carcinoma

    0.08
  • ovarian cancer

    0.07
  • esophageal squamous cell carcinoma

    0.07
  • benign prostatic hyperplasia

    0.07
  • Hyperlipoproteinemia type 5

    0.06

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

Protein function (UniProt)

LLGL scribble cell polarity complex component 2

Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity

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.