Gene Report

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Basic Info

Approved Symbol	SYNGAP1
Symbol Alias	SYNGAP, RASA5, KIAA1938
Approved Name	synaptic Ras GTPase activating protein 1
Previous Name	synaptic Ras GTPase activating protein 1 homolog (rat)
Location	6p21.3
Position	chr6:33419661-33457541, 1
External Links	HGNC: 11497 Entrez Gene: 8831 Ensembl: ENSG00000197283 UCSC: uc011dri.2
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fallin, M. D.,2005		1 SNP typed, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA.. This gene is not suggestive to BP.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0050803	regulation of synapse structure or activity	biological process	IEA	1
GO:0043113	receptor clustering	biological process	IEA	8
GO:0043524	negative regulation of neuron apoptotic process	biological process	IEA	26
GO:0005737	cytoplasm	cellular component	IBA	322
GO:0017124	SH3 domain binding	molecular function	IEA	11
GO:0008542	visual learning	biological process	IEA	17
GO:0016358	dendrite development	biological process	IEA	8
GO:0043547	positive regulation of GTPase activity	biological process	IEA	30
GO:0007389	pattern specification process	biological process	IEA	4
GO:0048167	regulation of synaptic plasticity	biological process	ISS	9
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane	cellular component	IBA	2
GO:0046580	negative regulation of Ras protein signal transduction	biological process	IBA; ISS	2
GO:0050771	negative regulation of axonogenesis	biological process	IEA	5
GO:0005096	GTPase activator activity	molecular function	IEA	19
GO:0007265	Ras protein signal transduction	biological process	IEA	7
GO:0043198	dendritic shaft	cellular component	IEA	7
GO:0043408	regulation of MAPK cascade	biological process	IEA	6
GO:0048169	regulation of long-term neuronal synaptic plasticity	biological process	IEA	8

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 13)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SYNGAP1	DLG3	YES	in vitro;in vivo;yeast 2-hybrid	9581761
SYNGAP1	GRIN2D	YES	in vivo	10862698
SYNGAP1	MPDZ	NO	in vitro;in vivo	15312654
SYNGAP1	GRIN1	YES	in vivo	10862698
SYNGAP1	CAMK2A	YES	in vitro;in vivo	15312654 , 12951199 , 11278737 , 15358237 , 14970204
SYNGAP1	ULK2	NO	in vitro;yeast 2-hybrid	15014045
SYNGAP1	DLGAP4	NO	in vivo;yeast 2-hybrid	9620694 , 11487731 , 9581761
SYNGAP1	TRIP6	NO	yeast 2-hybrid	11782456
SYNGAP1	PDGFRB	YES	in vitro;in vivo	1374684
SYNGAP1	ULK1	NO	in vitro;in vivo;yeast 2-hybrid	15014045
SYNGAP1	GRIN2B	YES	in vivo	9620694
SYNGAP1	DLG4	NO	in vitro;in vivo;yeast 2-hybrid	9581761
SYNGAP1	KDR	NO	in vitro	9405464

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6p21	chr6:30500000-46200000	1 (0/1/0)
6p23-p21.1	chr6:13400000-46200000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	Description	Result Category
16380905	This gene is not suggestive to SZ/SZA.	Negative

Reference	ID in SZGene	Result Category
19196676	768	Negative

Gene relationship with MDD

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Region: chr6:33419661..33457541 View in gBrowse