Skip to content
GenoLensGenoLens

CCDC39

Chr 3q26.33

coiled-coil domain 39 molecular ruler complex subunit

Aliases:
DKFZp434A128, CILD14, FAP59, CFAP59
MANE:
ENST00000476379.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Laterality disorders and isomerism

    BIALLELIC, autosomal or pseudoautosomal
  • Primary ciliary disorders

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

    BIALLELIC, autosomal or pseudoautosomal
  • Ductal plate malformation

    BIALLELIC, autosomal or pseudoautosomal
  • Familial pulmonary fibrosis

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

+4 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

  • Sepsis

    0.01

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

Protein function (UniProt)

Coiled-coil domain-containing protein 39

Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131972). Probably acts together with CCDC40 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly (PubMed:21131972)

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.