SYNGAP1

synaptic Ras GTPase activating protein 1

Tier: Gold Standard Ciliary Genes

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

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, ciliary tip

References: PMID:41005307, PMID:39677731

Functional category

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

Function

SYNGAP1 localizes proximally at the basal body, and antibody staining in rat brain cells confirms its ciliary localization. SYNGAP1 functions in cilia formation (Kostyanovskaya et al., 2025, bioRxiv, PMID 39677731).