CCT2

chaperonin containing TCP1 subunit 2

Ensembl:
ENSG00000166226
UniProt:
P78371
OMIM:
605139
Synonyms:
CCTB

Cilia effects upon perturbation of CCT2

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.87) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=666, lfc=-4.03) PMID:30270045

Subcellular localization

basal body, cilia, cytosol

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Metabolism
  • Protein processing & maturation
  • Ciliary membrane

Function

Roles in the folding of β-propeller proteins, such as Gβ1, in addition to its major target proteins, actin and tubulin. Interacts with chaperonin type BBSs, including BBSs 6, 10, and 12. Mutations in CCT2 could lead to genetic retinal diseases (27645772). Mutations in the CCT2 gene is causative for severe syndromic retinopathies or non-syndromic retinal dystrophies such as Leber congenital amaurosis (LCA) (40103630).

Model organism evidence

Mus musculus (1 reference)

Finally, CCDC181 is identified as a interacting protein for CCTβ protein, and its localization to photoreceptor connecting cilia is compromised in the mutant mouse.

PMIDs: 38830954