CNGA3

cyclic nucleotide gated channel subunit alpha 3

Ensembl:
ENSG00000144191
UniProt:
Q16281
OMIM:
600053
Synonyms:
ACHM2, CCNC1, CCNCA, CNCG3, CNG3

Cilia effects upon perturbation of CNGA3

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=924, lfc=-2.10) PMID:30270045

Phenotypes

Mouse phenotype:
enlarged uterus, enlarged spleen, decreased body length, preweaning lethality, incomplete penetrance
Mouse ciliopathy phenotype:
increased circulating alanine transamise level, abnormal kidney morphology
Human ciliopathy phenotype:
cone-rod dystrophy

Ciliopathy associations

  • Leber Congenital Amaurosis

Subcellular localization

flagella

Functional category

  • Signaling (Hedgehog, GPCRs, ion channels)

Function

CNGA3 localized to flagella (25613900)

Model organism evidence

C. elegans (3 references)

Notably, deactivating the cyclic nucleotide-gated (CNG) channel TAX-4 on the ciliary membrane promotes lifespan extension through a UPRER-dependent mechanism.

We demonstrate that ciliary localization of CNG channel subunits is interdependent on different channel subunits in specific cells, and identify sequences required for efficient ciliary targeting and localization of the TAX-2 CNGB and TAX-4 CNGA subunits.

PMIDs: 38857399, 23886944, 21124868

Mus musculus (1 reference)

The daf-25 dauer phenotype is suppressed by daf-10/IFT122 mutations (which disrupt ciliogenesis), but not by daf-6/PTCHD3 mutations (which prevent environmental exposure of sensory cilia), implying that DAF-25 functions in the cilia themselves.

PMIDs: 21124868