AlphaFold predicted structure
SYNGAP1 · Q96PV0
Mean pLDDT
59.2/ 100
Low
1,343 residues
Confidence breakdown
- Very high(≥ 90)22%
- Confident(70–90)20%
- Low(50–70)9%
- Very low(< 50)50%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SYNGAP1
Chr 6p21.32synaptic Ras GTPase activating protein 1
- Aliases:
- SYNGAP, RASA5, KIAA1938
- MANE:
- ENST00000646630.1
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
intellectual disability, autosomal dominant 5
0.81complex neurodevelopmental disorder
0.62hereditary disease
0.56Intellectual disability
0.53Seizure
0.49Epileptic encephalopathy
0.45neurodevelopmental disorder
0.41epilepsy with myoclonic atonic seizures
0.38Global developmental delay
0.37developmental disability
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Ras/Rap GTPase-activating protein SynGAP
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)
Diseases associated with SYNGAP1
Curated MONDO disease pages that list SYNGAP1 among their top associated genes.