CPEB4

cytoplasmic polyadenylation element binding protein 4

Ensembl:
ENSG00000113742
UniProt:
Q17RY0
OMIM:
610607
Synonyms:
KIAA1673

Cilia effects upon perturbation of CPEB4

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal seminal vesicle morphology; increased circulating alkaline phosphatase level; preweaning lethality; complete penetrance
Mouse ciliopathy phenotype:
decreased circulating calcium level

Ciliopathy associations

  • Kallmann Syndrome

Subcellular localization

golgi apparatus, nucleoplasm, vesicles

Functional category

  • Motile cilium & axoneme

Function

Mutations in CPEB4 cause Kallmann Syndrome (PMID: 38628584).