CCDC50

coiled-coil domain containing 50

Ensembl:
ENSG00000152492
UniProt:
Q8IVM0
OMIM:
611051
Synonyms:
C3ORF6, DFNA44, YMER

Cilia effects upon perturbation of CCDC50

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.52) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.06) PMID:41160700

Phenotypes

Mouse phenotype:
increased circulating alkaline phosphatase level, increased grip strength, increased mean corpuscular hemoglobin concentration
Human ciliopathy phenotype:
autosomal dominant nonsyndromic hearing loss

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly

Function

CCDC50 has localized in ciliary tip, primary cilia.