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FRY

Chr 13q13.1

FRY microtubule binding protein

Aliases:
bA37E23.1, 13CDNA73, CG003
MANE:
ENST00000542859.6

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • schizophrenia

    0.38
  • smoking initiation

    0.33
  • liver disorder

    0.28
  • glomerulonephritis

    0.27
  • ankylosing spondylitis

    0.27
  • hypothyroidism

    0.25
  • complication

    0.21
  • medical procedure

    0.21
  • autosomal recessive non-syndromic intellectual disability

    0.18
  • placenta praevia

    0.17

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

Protein function (UniProt)

Protein furry homolog

Plays a crucial role in the structural integrity of mitotic centrosomes and in the maintenance of spindle bipolarity by promoting PLK1 activity at the spindle poles in early mitosis. May function as a scaffold promoting the interaction between AURKA and PLK1, thereby enhancing AURKA-mediated PLK1 phosphorylation

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.