coiled-coil domain 40 molecular ruler complex subunit
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLaterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomalPrimary ciliary disorders
BIALLELIC, autosomal or pseudoautosomalRespiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomalDuctal plate malformation
BIALLELIC, autosomal or pseudoautosomalFamilial pulmonary fibrosis
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal+4 more panels — install the extension to see the full list inline on any page.
primary ciliary dyskinesia
Kartagener Syndrome
bronchiectasis
combined immunodeficiency due to DOCK8 deficiency
Heterotaxy
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Usher syndrome
trigeminal nerve disorder
dry eye syndrome
Abnormal nasolacrimal system morphology
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Coiled-coil domain-containing protein 40
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:21131974). Probably acts together with CCDC39 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. Required for axonemal recruitment of CCDC39 (PubMed:21131974)
Curated MONDO disease pages that list CCDC40 among their top associated genes.
CCDC40 · Q4G0X9
Mean pLDDT
70.8/ 100
Confident
1,142 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
