PLD3

phospholipase D family member 3

Ensembl:
ENSG00000105223
UniProt:
Q8IV08
OMIM:
615698
Synonyms:
HU-K4

Cilia effects upon perturbation of PLD3

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:
thrombocytopenia, decreased mean corpuscular hemoglobin

Ciliopathy associations

  • Spinocerebellar Ataxia

Subcellular localization

cilia associated gene, endosome

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development

Function

Mutations in the PLD3 gene cause Spinocerebellar Ataxia (PMID: 29053796).