CC2D2B

coiled-coil and C2 domain containing 2B

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

Cilia effects upon perturbation of CC2D2B

Subcellular localization

cilia

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).

Model organism evidence

Danio rerio (1 reference)

Joubert Syndrome (JBTS) is a neurodevelopmental ciliopathy defined by a highly specific midbrain-hindbrain malformation, variably associated with additional neurological features.

PMIDs: 39400299

Mus musculus (1 reference)

More than a thousand genes are required for cilia function.

PMIDs: 38231387