Aliases for SYNGAP1 Gene
- Synaptic Ras GTPase Activating Protein 1 2 3 5
- Synaptic Ras GTPase-Activating Protein 1 3 4
- Neuronal RasGAP 3 4
- Synaptic Ras GTPase Activating Protein 1 Homolog (Rat) 2
- Synaptic Ras GTPase Activating Protein 1 Homolog 3
- Synaptic Ras GTPase Activating Protein, 135kDa 3
- Ras/Rap GTPase-Activating Protein SynGAP 3
- Ras GTPase-Activating Protein SynGAP 3
External Ids for SYNGAP1 Gene
Previous GeneCards Identifiers for SYNGAP1 Gene
The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5). [provided by RefSeq, Dec 2009]
GeneCards Summary for SYNGAP1 Gene
SYNGAP1 (Synaptic Ras GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with SYNGAP1 include Autosomal Dominant Non-Syndromic Intellectual Disability and Intellectual Disability. Among its related pathways are Interleukin-3, 5 and GM-CSF signaling and Signaling by GPCR. GO annotations related to this gene include GTPase activator activity and SH3 domain binding. An important paralog of this gene is RASAL2.
UniProtKB/Swiss-Prot for SYNGAP1 Gene
Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity).