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FLASH GENE
Symbol SYNGAP1 contributors: MLM/mct - updated : 11-04-2019
HGNC name synaptic Ras GTPase activating protein 1 homolog (rat)
HGNC id 11497
Corresponding disease
EIEE74 epileptic encephalopathy, early infantile 74
NSMR2 non-syndromic mental retardation 2
Location 6p21.32      Physical location : 4.868.092 - 33.421.465
Synonym name
  • synaptic Ras-GAP 1
  • neuronal RasGAP
  • Synonym symbol(s) SYNGAP, RASA5, RASA1, KIAA1938, DKFZp761G1421
    DNA
    TYPE functioning gene
    STRUCTURE 33.62 kb     19 Exon(s)
    MAPPING cloned Y linked N status confirmed
    regionally located in the flanking region of KNSL2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 6011 148 1343 - 2013 23708187
    18 - 5962 - 1292 - 2013 23708187
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     pancreas exocrine   highly
    Endocrineadrenal gland   predominantly
     thyroid   moderately
    Lymphoid/Immunethymus   highly
    Nervousbrainforebrain  highly Homo sapiens
     brainlimbic system    Homo sapiens
    Reproductivefemale systembreastmammary gland moderately
     male systemprostate  moderately
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • putative PH domain at the N terminus
  • one RASGAP motif
  • one proline-rich putative SH3 binding domain
  • a C2 domain with RapGAP activity (Pena 2008)
  • C terminal consensus sequence
  • conjugated PhosphoP
    mono polymer complex
    HOMOLOGY
    interspecies homolog to Drosophila Syn
    homolog to rattus Syngap1
    Homologene
    FAMILY
  • Ras GTPase-activating protein family
  • CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as an inhibitory regulator of the Ras-cAMP pathway
  • may play a role in NMDAR-dependent control of AMPAR potentiation and synaptic plasticity
  • GAP that uses a second domain for catalytic activity, thus pointing to a new function of C2 domains (Pena 2008)
  • prominent Ras/Rap GTPase-activating protein in the postsynaptic density, regulates the timing of spine formation and trafficking of glutamate receptors in cultured neurons (Carlisle 2008)
  • regulates the actin cytoskeleton and &
  • 945;-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor insertion through Ras-related pathways (Hamdan 2009)
  • involved in steady-state regulation of actin in mature spines (Carlisle 2008)
  • SYNGAP1 is an important regulator of neuropeptide release from primary sensory neurons and can modulate capsaicin-induced hypernociception
  • plays a unique role in regulating specific downstream intracellular events in response to N-methyl-D-aspartate receptor (NMDAR) activation
  • SYNGAP1-mediated signaling appears to be critical for the proper integration and survival of newborn neurons
  • acts as a critical developmental repressor of neural excitability that promotes the development of life-long cognitive abilities
  • a critical period of SYNGAP1 protein function exists in the first two weeks of hippocampal development, where this protein plays a key role in determining the rate of dendritic spine synapse development
  • plays a critical role in GABAergic circuit function, suggesting that SYNGAP1 haploinsufficiency in GABAergic circuits may contribute to cognitive deficits
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • member of the NMDAR signaling complex in excitatory synapses
  • involved in a complex with MPDZ and the Ca2+/calmodulin-dependent kinase CaMKII
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CAMK2A
  • CAMK2B
  • MPDZ
  • regulates steady-state and activity-dependent phosphorylation of cofilin (Carlisle 2008)
  • cell & other
    REGULATION
    activated by phosphorylation by Ca(2+)/calmodulin-dependent protein kinase II
    ASSOCIATED DISORDERS
    corresponding disease(s) NSMR2 , EIEE74
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    de novo truncating mutations in 3 out of 94 patients with nonsyndromic mental retardation, not found in autism spectrum disorders, schizophrenia and controls subjects , )
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS