CEP162

centrosomal protein 162

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000135315
UniProt:
Q5TB80
OMIM:
610201
Synonyms:
C6ORF84, KIAA1009, QN1

Cilia effects upon perturbation of CEP162

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (1 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=1.35) PMID:29459680

Ciliopathy associations

  • Male Infertility
  • Retinal Dystrophy/Degeneration

References: PMID:36862503, PMID:40270641

Subcellular localization

basal body, centrosome, cilia, nucleus

References: PMID:23644468, PMID:40270641, PMID:41005307

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Transition zone

Function

Promotes and restricts transition zone (TZ) assembly before ciliogenesis. Interacts with core TZ components CEP290 and mediates their association with MTs. Loss of CEP162 arrests ciliogenesis at the stage of TZ assembly, gain of CEP162 at cilia tips promotes ectopic assembly of TZ components (PMID: 23644468).