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GenoLensGenoLens

CCNO

Chr 5q11.2

cyclin O

Aliases:
UDG2, FLJ22422, UNG2
MANE:
ENST00000282572.5

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Primary ciliary disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Laterality disorders and isomerism

  • Rare multisystem ciliopathy disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • primary ciliary dyskinesia

    0.78
  • hereditary disease

    0.19
  • Hydrocephalus

    0.08
  • gastric cancer

    0.08
  • nephronophthisis

    0.07
  • Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

    0.06
  • glioblastoma

    0.06
  • neoplasm

    0.06
  • Hydrolethalus

    0.05
  • holoprosencephaly

    0.05

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

Protein function (UniProt)

Cyclin-O

Specifically required for generation of multiciliated cells, possibly by promoting a cell cycle state compatible with centriole amplification and maturation. Acts downstream of MCIDAS to promote mother centriole amplification and maturation in preparation for apical docking

Curated MONDO disease pages that list CCNO among their top associated genes.

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.