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FLASH GENE

Symbol

SYNGAP1

contributors: MLM - updated : 26 05 11

HGNC name	synaptic Ras GTPase activating protein 1 homolog (rat)
HGNC id	11497

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006772 19 - 6011 NP_006763 148 1343 - Pena (2008)

EXPRESSION

Type

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   moderately   intestine small intestine     highly   pancreas exocrine       highly Endocrine adrenal gland       predominantly   thyroid       moderately Lymphoid/Immune thymus       highly Nervous brain       highly Reproductive female system breast mammary gland   moderately   male system prostate     moderately Visual eye       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

intracellular

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)

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

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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