CACNA2D2

calcium voltage-gated channel auxiliary subunit alpha2delta 2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000007402
UniProt:
Q9NY47
OMIM:
607082
Synonyms:
ALPHA2DELTA-2, KIAA0558

Ciliogenesis screen results (4 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

Phenotypes

Mouse phenotype:
small spleen, increased lean body mass, small semil vesicle, abnormal semil vesicle morphology, small heart, abnormal placenta morphology, preweaning lethality, incomplete penetrance, increased spleen weight, abnormal skin morphology, abnormal gait, no spontaneous movement, abnormal spleen morphology, enlarged spleen, tremors, decreased total body fat amount
Human ciliopathy phenotype:
cerebellar atrophy, developmental delay, and seizures

Subcellular localization

basal body, flagella, lysosomes

References: PMID:25613900

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development

Function

CACNA2D2 has localized in basal body,flagella.