SYNGAP1

SYNGAP1
Identifiers
Aliases	SYNGAP1, MRD5, RASA1, RASA5, SYNGAP, synaptic Ras GTPase activating protein 1
External IDs	OMIM: 603384; MGI: 3039785; HomoloGene: 84739; GeneCards: SYNGAP1; OMA:SYNGAP1 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	33,453,689 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	26,972,434 bp
RNA expression pattern
	Top expressed in
	pituitary gland; ; right uterine tube; ; anterior pituitary; ; right ovary; ; right hemisphere of cerebellum; ; body of uterus; ; left ovary; ; superior frontal gyrus; ; canal of the cervix; ; myometrium;
	Top expressed in
	primary visual cortex; ; dentate gyrus of hippocampal formation granule cell; ; superior frontal gyrus; ; neural layer of retina; ; genital tubercle; ; tail of embryo; ; ventricular zone; ; zygote; ; ascending aorta; ; aortic valve;
	More reference expression data
	n/a
Gene ontology
Molecular function	GTPase activator activity; SH3 domain binding;
Cellular component	cytoplasm; cytosol; membrane; intrinsic component of the cytoplasmic side of the plasma membrane; dendritic shaft; postsynaptic density; plasma membrane; glutamatergic synapse;
Biological process	pattern specification process; visual learning; negative regulation of neuron apoptotic process; regulation of long-term neuronal synaptic plasticity; regulation of MAPK cascade; regulation of GTPase activity; dendrite development; receptor clustering; MAPK cascade; regulation of synaptic plasticity; positive regulation of GTPase activity; negative regulation of axonogenesis; regulation of synapse structure or activity; signal transduction; Ras protein signal transduction; negative regulation of Ras protein signal transduction; maintenance of postsynaptic specialization structure;
	Sources:Amigo / QuickGO
Orthologs
	8831
	240057
	ENSG00000227460; ENSG00000197283
	ENSMUSG00000067629
	Q96PV0
	F6SEU4
	NM_006772; NM_001130066
	NM_001281491
	NP_001123538; NP_006763
	NP_001268420; NP_001357962; NP_001357963; NP_001380956
	Wikidata
View/Edit Human	View/Edit Mouse

Synaptic Ras GTPase-activating protein 1, also known as synaptic Ras-GAP 1 or SYNGAP1, is a protein that in humans is encoded by the SYNGAP1 gene. SYNGAP1 is a ras GTPase-activating protein that is critical for the development of cognition and proper synapse function. Mutations in humans can cause intellectual disability, epilepsy, autism and sensory processing deficits.