CCDC40

coiled-coil domain 40 molecular ruler complex subunit

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000291505
UniProt:
Q4G0X9
OMIM:
613799
Synonyms:
CFAP172, CILD15, FAP172, FLJ20753, FLJ32021, KIAA1640

Cilia effects upon perturbation of CCDC40

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.16) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
increased leukocyte cell number

Ciliopathy associations

  • Primary Ciliary Dyskinesia

References: PMID:23255504, PMID:22693285

Subcellular localization

cilia, microtubules

References: PMID:41410385, PMID:42010243, PMID:41005307, PMID:21131974, PMID:41757021

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cell migration & adhesion

Function

CCDC40 is required for assembly of motile cilia. It is responsible for CCDC39 axonemal recruitment. It is important for cytoplasmic pre- assembly, axonemal targeting, and/or transport of axonemal components CCDC39, GAS11 and DNALI1. Necessary for assembly of inner dynein arms, the dynein regulatory complex and plays a role in the establishment of the left- right patterning (21131974). Cilia were shorter in Kupffer’s vesicle and the pronephric tubules of ccdc40 (PMID: 21131974)