DNAAF2

dynein axonemal assembly factor 2

Ensembl:
ENSG00000165506
UniProt:
Q9NVR5
OMIM:
612517
Synonyms:
C14ORF104, CILD10, FLJ10563, KTU, PF13

Cilia effects upon perturbation of DNAAF2

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.35) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-6.51) PMID:41160700

Phenotypes

Mouse phenotype:
abnormal sleep behavior, embryonic lethality prior to organogenesis, preweaning lethality, complete penetrance, increased circulating sodium level, increased circulating total protein level
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Protein processing & maturation
  • Cell migration & adhesion

Function

D AF2 localized to basal body (25613900).