CC2D2B

coiled-coil and C2 domain containing 2B

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000188649
UniProt:
Q6DHV5
Synonyms:
BA248J23.4, BA690P14.3, C10ORF130, C10ORF131

Subcellular localization

cilia, basal body

References: PMID:41005307, PMID:21816947

Functional category

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

Function

Cc2d2a localizes to the connecting cilium in photoreceptors and to the transition zone in other ciliated cell types and that cilia are present in these cells in cc2d2a mutants, arguing against a primary function for Cc2d2a in ciliogenesis (21816947).