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CCP110

Chr 16p12.3

centriolar coiled-coil protein 110

Aliases:
KIAA0419, CP110
MANE:
ENST00000694978.1

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.49
  • ciliopathy

    0.19
  • posterior cortical atrophy

    0.07
  • Jeune syndrome

    0.06
  • Robinow syndrome

    0.06
  • Short rib-polydactyly syndrome, Verma-Naumoff type

    0.06
  • Cornelia de Lange syndrome

    0.06
  • cranioectodermal dysplasia

    0.06
  • autosomal dominant Robinow syndrome

    0.06
  • 3C syndrome

    0.06

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

Protein function (UniProt)

Centriolar coiled-coil protein of 110 kDa

Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation (PubMed:17681131, PubMed:17719545, PubMed:23486064, PubMed:30375385, PubMed:35301795). Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation (By similarity). Required for correct spindle formation and has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CETN2 (PubMed:16760425)

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.