PSEN2

presenilin 2

Ensembl:
ENSG00000143801
UniProt:
P49810
Synonyms:
AD3L, AD4, E5-1, PS-2, PS2

Cilia effects upon perturbation of PSEN2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • 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:
enlarged thymus, abnormal digit morphology, abnormal thymus morphology, increased mean corpuscular hemoglobin, abnormal semil vesicle morphology
Mouse ciliopathy phenotype:
hydrocephaly, abnormal brain morphology, abnormal reti morphology, abnormal heart morphology

Subcellular localization

basal body, centrosome, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Notch-processing enzyme Presenilin-2(PSEN2 )targets to the basal body (centrosome), and this localization is required for proper differentiation and optimal activation of Notch sig l transduction(27354375).