DRC2

coiled-coil domain containing 65

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000139537
UniProt:
Q8IXS2
OMIM:
611088
Synonyms:
CFAP250, CILD27, CCDC65, FAP250, FLJ35732, NYD-SP28

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.89) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
no spontaneous movement, preweaning lethality, incomplete penetrance
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

References: PMID:23991085, PMID:24094744

Subcellular localization

basal body, cilia, transition zone

References: PMID:41005307, PMID:23991085, PMID:29167384

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Transition zone

Function

This gene encodes a protein that is required for proper cilia motility and regulation of dynein activity (24094744). Assembly and maintenance of the protein components of the nexin- dynein regulatory complex (N- DRC) and thus the regulation of cilia motion. Maintaince of the integrity of N-DRC required for regulation of dynein-driven microtubule sliding (23991085, 29167384).