SYNGAP1

synaptic Ras GTPase activating protein 1

Ensembl:
ENSG00000197283
UniProt:
Q96PV0
OMIM:
603384
Synonyms:
KIAA1938, RASA5, SYNGAP

Cilia effects upon perturbation of SYNGAP1

Ciliogenesis screen results (3 screens)

  • Kim2016: No effect
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.37, ciliated=19.5%) PMID:26595381

Phenotypes

Human ciliopathy phenotype:
intellectual disability, autosomal dominant 5; Intellectual disability

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Neurogenesis & migration
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

SYNGAP1 has localized in basal body, cilia.