CACNA1F

calcium voltage-gated channel subunit alpha1 F

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000102001
UniProt:
O60840
OMIM:
300110
Synonyms:
AIED, CAV1.4, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.23) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased circulating insulin level, dysplasia, absent optic nerve, atrophy, abnormal eye morphology, hyperactivity

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the CACNA1F gene cause Cone-Rod Dystrophy (PMID: 16505158).