CAMK2A

calcium/calmodulin dependent protein kinase II alpha

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000070808
UniProt:
Q9UQM7
OMIM:
114078
Synonyms:
CAMKA, CAMKIIA, CAMKIINALPHA, KIAA0968

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

Human ciliopathy phenotype:
intellectual disability, autosomal dominant 53; Intellectual disability

Subcellular localization

cilia, Cytosol, Nucleus, ciliary tip, transition zone

References: PMID:41005307, PMID:20630945, PMID:23747599

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Transcription regulation

Function

Zebrafish CaMK-II is expressed in ciliated tissues including Kupffer's vesicle (PMID 20630945), kidney (PMID 21752935), neuromasts and inner ear, and its suppression alters ciliated hair-cell number and Delta-Notch signalling. The zebrafish work does not resolve which human CAMK2 paralog is responsible; no CAMK2A-specific ciliary localization has been curated.