CNGA3

cyclic nucleotide gated channel subunit alpha 3

Tier: Gold Standard Ciliary Genes

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

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
Human ciliopathy phenotype:
cone-rod dystrophy

Ciliopathy associations

  • Leber Congenital Amaurosis

References: PMID:21901789

Subcellular localization

flagella

References: PMID:25613900, PMID:23329832

Functional category

  • Signaling (Hedgehog, GPCRs, ion channels)

Function

CNGA3 localized to flagella (25613900)