PDGFRA

platelet derived growth factor receptor alpha

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000134853
UniProt:
P16234
OMIM:
173490
Synonyms:
CD140A, GAS9, PDGFR2

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.15) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.27) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased cd8-positive, ive alpha-beta t cell number, abnormal skin morphology, increased nk t cell number, abnormal thymus morphology, decreased circulating hdl cholesterol level, abnormal lymph node morphology, increased airway resistance, enlarged lymph nodes, increased memory-marker cd4-positive nk t cell number, increased cd4-positive nk t cell number, enlarged thymus, abnormal behavior, preweaning lethality, complete penetrance
Human ciliopathy phenotype:
renal cell carcinoma

Subcellular localization

cilia, lysosomes, nucleus

References: PMID:41005307

Functional category

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

Function

PDGFRA has localized in primary cilia