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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SYNGAP1 Gene

protein-coding GIFtS: 62
GCID: GC06P033387

synaptic Ras GTPase activating protein 1

(Previous name: synaptic Ras GTPase activating protein 1 homolog (rat)...)

Explore 16 diseases affiliated with
SYNGAP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Synaptic Ras GTPase Activating Protein 1¹ ²		Synaptic Ras GTPase Activating Protein 1 Homolog (Rat)¹
SYNGAP¹ ² ⁵		RASA1²
RASA5¹ ²		Ras GTPase-Activating Protein SynGAP²
KIAA1938¹ ³		Synaptic Ras GTPase Activating Protein 1 Homolog²
Neuronal RasGAP² ³		Synaptic Ras GTPase Activating Protein, 135kDa²
Synaptic Ras GTPase-Activating Protein 1² ³		Synaptic Ras-GAP 1³
MRD5² ⁵

External Ids:	HGNC: 11497¹	Entrez Gene: 8831²	Ensembl: ENSG00000197283⁷	OMIM: 603384⁵	UniProtKB: Q96PV0³

Export aliases for SYNGAP1 gene to outside databases

Previous GC identifers: GC06U990169 GC06P033384 GC06P033434 GC06P033495 GC06P033129

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SYNGAP1:

The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found

associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein

kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation

autosomal dominant type 5 (MRD5). (provided by RefSeq, Dec 2009)

UniProtKB/Swiss-Prot: SYGP1_HUMAN, Q96PV0

Function: 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. May be involved in certain forms of brain injury, leading to long-term learning and

memory deficits (By similarity)

Gene Wiki entry for SYNGAP1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15 NT_167249.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SYNGAP1 gene promoter:
PPAR-alpha GATA-3 AP-1 ATF-2 COUP c-Jun E4BP4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SYNGAP1 promoter sequence

Search SABiosciences Chromatin IP Primers for SYNGAP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYNGAP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.32 HGNC cytogenetic band: 6p21.3

SYNGAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYNGAP1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P033387: view genomic region (about GC identifiers)

Start:	33,387,847 bp from pter	End:	33,421,466 bp from pter
Size:	33,620 bases	Orientation:	plus strand

1 alternative location:

Chr6+,ALT_REF_LOCI_7 33,457,558-33,491,175

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SYGP1_HUMAN, Q96PV0 (See protein sequence)

Recommended Name: Ras GTPase-activating protein SynGAP

Size: 1343 amino acids; 148284 Da

Subunit: Interacts KLHL17, CAMK2A and CAMK2B (By similarity). Interacts with MPDZ

Caution: It is uncertain whether Met-1 or Met-16 is the initiator methionine

Sequence caution: Sequence=BAB67831.2; Type=Erroneous initiation;

Secondary accessions: A2AB17 A2BEL6 A2BEL7 A8MQC4 Q8TCS2 Q9UGE2

Alternative splicing: 4 isoforms: Q96PV0-1 Q96PV0-2 Q96PV0-3 Q96PV0-4

Explore the universe of human proteins at neXtProt for SYNGAP1: NX_Q96PV0

Post-translational modifications:

Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption.

Phosphorylation by PLK2 promotes its activity (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96PV0

SYNGAP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_006763.2

ENSEMBL proteins:

ENSP00000403636 ENSP00000416519 ENSP00000412475 ENSP00000410023 ENSP00000293748

Human Recombinant Protein Products:

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	Novus Biologicals SYNGAP1 Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SYNGAP1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	IBA	--
GO:0031235	intrinsic to internal side of plasma membrane	IBA	--
GO:0043198	dendritic shaft	IEA	--

SYNGAP1 for ontologies About GeneDecksing

SYNGAP1 Antibody Products:

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	Uscn Antibodies for SYNGAP1
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Assay Products for SYNGAP1:

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	GenScript Custom Assay Services for SYNGAP1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SYNGAP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SYNGAP1 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR023152 RasGAP_CS

IPR001936 RasGAP

IPR021887 DUF3498

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR008936 Rho_GTPase_activation_prot

Graphical View of Domain Structure for InterPro Entry Q96PV0

ProtoNet protein and cluster: Q96PV0

3 Blocks protein families:

IPB000008 C2 domain

IPB001849 Pleckstrin-like

IPB001936 Ras GTPase-activating protein

UniProtKB/Swiss-Prot: SYGP1_HUMAN, Q96PV0

Similarity: Contains 1 C2 domain

Similarity: Contains 1 PH domain

Similarity: Contains 1 Ras-GAP domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SYGP1_HUMAN, Q96PV0

Function: 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. May be involved in certain forms of brain injury, leading to long-term learning and

memory deficits (By similarity)

Genatlas biochemistry entry for SYNGAP1:

synaptic Ras-GTPase activating protein 1,homolog of rat,in the flanking region of KNSL2

miRNA Products:		miRTarBase miRNAs that target SYNGAP1: hsa-mir-335 (MIRT003230)

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		8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate SYNGAP1 (see all 88):
		hsa-miR-3605-3p hsa-miR-219-5p hsa-miR-4274 hsa-miR-637 hsa-miR-508-5p hsa-miR-3649 hsa-miR-2113 hsa-miR-4324

		SwitchGear 3'UTR luciferase reporter plasmid: SYNGAP1 3' UTR sequence

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Gene Editing
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DNA2.0 Custom Protein Engineering Service for SYNGAP1

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		GenScript: all cDNA clones in your preferred vector: SYNGAP1 (NM_006772)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNGAP1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005096	GTPase activator activity	--	--
GO:0005097	Rab GTPase activator activity	IEA	--
GO:0005099	Ras GTPase activator activity	IBA	--
GO:0005515	protein binding	--	--
GO:0005543	phospholipid binding	IEA	--

SYNGAP1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SYNGAP1:

Increased S DNA content

Animal Models:
Mouse knock-outs for SYNGAP1: Syngap1^tm1.1Mabk Syngap1^tm1Rlh
5 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Syngap1):

behavior/neurological

cellular

growth/size

mortality/aging

nervous system

SYNGAP1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Development Angiotensin activation of ERK

Development G-Proteins mediated regulation MARK-ERK signaling

0.66

Development_G-Proteins mediated regulation MARK-ERK signaling

0.66

Neuroscience

Neuroscience

1.00

Rho Family GTPases

Molecular Mechanisms of Cancer

0.51

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for SYNGAP1

Development G-Proteins mediated regulation MARK-ERK signaling

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SYNGAP1

Molecular Mechanisms of Cancer

1 Cell Signaling Technology (CST) Pathway for SYNGAP1

Neuroscience

1 GeneGo (Thomson Reuters) Pathway for SYNGAP1

Development G-Proteins mediated regulation MARK-ERK signaling

SYNGAP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SYNGAP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/18 Interacting proteins for SYNGAP1 (Q96PV0³ ENSP00000403636⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DLG3	Q92796³, ENSP00000363480⁴	I2D: score=3 STRING: ENSP00000363480
DLG4	P78352³, ENSP00000293813⁴	I2D: score=3 STRING: ENSP00000293813
GRIN1	Q05586³, ENSP00000360616⁴	I2D: score=2 STRING: ENSP00000360616
GRIN2B	Q13224³, ENSP00000279593⁴	I2D: score=2 STRING: ENSP00000279593
DLGAP4	Q9Y2H0³, ENSP00000363023⁴	I2D: score=1 STRING: ENSP00000363023

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	--	--
GO:0007265	Ras protein signal transduction	IEA	--
GO:0007389	pattern specification process	IEA	--
GO:0008542	visual learning	IEA	--
GO:0016358	dendrite development	IEA	--

SYNGAP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SYNGAP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SYNGAP1

1 HMDB Compound for SYNGAP1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--

1 Novoseek chemical compound relationship for SYNGAP1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nmda	62.6	4	9581761 (1), 19483657 (1), 14529713 (1), 18417361 (1)

Search CenterWatch for drugs/clinical trials and news about SYNGAP1 / SYGP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SYNGAP1 gene (2 alternative transcripts):

NM_006772.2 NM_001130066.1

Unigene Cluster for SYNGAP1:

Synaptic Ras GTPase activating protein 1

Hs.586264 [show with all ESTs]

Unigene Representative Sequence: NM_006772

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000479510(uc003oeo.1) ENST00000418600(uc011dri.2 uc010juy.3 uc010juz.3)

ENST00000449372 ENST00000496374 ENST00000428982 ENST00000440474 ENST00000495633

ENST00000486399 ENST00000470232 ENST00000293748

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		8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate SYNGAP1 (see all 88):
		hsa-miR-3605-3p hsa-miR-219-5p hsa-miR-4274 hsa-miR-637 hsa-miR-508-5p hsa-miR-3649 hsa-miR-2113 hsa-miR-4324

		SwitchGear 3'UTR luciferase reporter plasmid: SYNGAP1 3' UTR sequence

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Additional cDNA sequence:

AK094225.1 AK124666.1 AK307888.1 AL713634.1

8 DOTS entries:

DT.91967851 DT.91954009 DT.97767201 DT.91726707 DT.95084169 DT.92029416 DT.121330526 DT.95272789

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for SYNGAP1 (see all 13) About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b	^	11a	·	11b	·	11c	^	12a	·	12b	^	13	^	14	^	15	^	16	^	17	^	18	^
SP1:
SP2:																									-
SP3:
SP4:
SP5:

ExUns:	19a	·	19b	·	19c	^	20a	·	20b	·	20c	^	21a	·	21b	^	22
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for SYNGAP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SYNGAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTAATAAAC

About this image

SYNGAP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Afferent Arteriole

Juxtaglomerular Cells

Kidney, Smooth Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SYNGAP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SYNGAP1

SOURCE GeneReport for Unigene cluster: Hs.586264

SABiosciences Custom PCR Arrays for SYNGAP1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNGAP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SYNGAP1 gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	SYNGAP1⁶	--	74(a)	1 ↔ 1	GL343884.1(14974-74672)
zebrafish (Danio rerio)	Actinopterygii	LOC100151149¹	ras GTPase-activating protein SynGAP-like	68.79(n) 71.89(a)		100151149 XM_001919169.3 XP_001919204.3
fruit fly (Drosophila melanogaster)	Insecta	CG42684⁶	--	15(a)	1 → many	X(17604178-17645718)
worm (Caenorhabditis elegans)	Secernentea	gap-2⁶	Ras GTPase-activating protein gap-2	20(a)	1 → many	X(9472410-9516378)

ENSEMBL Gene Tree for SYNGAP1 (if available)
TreeFam Gene Tree for SYNGAP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SYNGAP1 gene

DAB2IP² RASA4² RASA1² RASAL3² RASA2² RASA4B² RASA3² RASAL2²

RASAL1²

4 SIMAP similar genes for SYNGAP1 using alignment to 3 protein entries: SYGP1_HUMAN (see all proteins):

DAB2IP RASAL2 FLJ00087 RASAL3

SYNGAP1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113257612^1,2	C	--	33385862(+)	`TTCTTA/G/TCCTGG`	11	--	ut5¹ spd¹ us2k¹		1		CSA	1
rs185452152^1,2	C,F,	--	33385965(+)	`CATGGC/TGCGGT`	7	--	ut5¹ us2k¹		1		EU	1265
rs144817617^1,2		--	33386077(+)	`CGAAA-/CCTGCC`	6	--	us2k¹		0	--	--	--	--
rs146728780^1,2		--	33386189(+)	`ACAGGA/CCAGCC`	6	--	us2k¹		0	--	--	--	--
rs139270043^1,2		--	33386219(+)	`AGAGCC/TGGTTC`	6	--	us2k¹		0	--	--	--	--
rs118174945^1,2		--	33386243(+)	`CCAGAG/AACCCC`	7	--	us2k¹		1		EA	120
rs141772491^1,2		--	33386282(+)	`GGGGAA/TTCATC`	6	--	us2k¹		0	--	--	--	--
rs189904248^1,2		--	33386495(+)	`TGATTA/TGGCAG`	6	--	us2k¹		0	--	--	--	--
rs77965538^1,2	C,F,	--	33386728(+)	`GGATTG/CGTCCA`	7	--	us2k¹		2		NA EA	240
rs182567568^1,2		--	33386970(+)	`CTCGGA/TGTTTC`	6	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SYNGAP1 (33387847 - 33421466 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SYNGAP1
1 Indel: 10785
Human Gene Mutation Database (HGMD): SYNGAP1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SYNGAP1 for disorders           About GeneDecksing

OMIM gene information: 603384
OMIM disorders: 612621
UniProtKB/Swiss-Prot: SYGP1_HUMAN, Q96PV0

Defects in SYNGAP1 are the cause of mental retardation autosomal dominant type 5 (MRD5) [MIM:612621]. Mental

retardation is characterized by significantly sub-average general intellectual functioning associated with impairments

in adaptative behavior and manifested during the developmental period. MRD5 patients show global developmental delay

with delayed motor development, hypotonia, moderate-to-severe mental retardation, and severe language impairment.

Autism can be present in some patients

16 diseases for SYNGAP1: About MalaCards

mental retardation, autosomal dominant 5 klippel-trenaunay syndrome transient cerebral ischemia autism spectrum disorder

proteus syndrome generalized epilepsy systemic lupus erythematosus neuronitis

intellectual disability lupus erythematosus brain injury brain ischemia

ischemia hypotonia cerebritis schizophrenia

1 disease from the University of Copenhagen DISEASES database for SYNGAP1:

Intellectual disability

Human Genome Epidemiology (HuGE) Navigator: SYNGAP1 (6 documents)

Export disorders for SYNGAP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SYNGAP1 gene, integrated from 9 sources (see all 36):
(articles sorted by number of sources associating them with SYNGAP1)

Utopia: connect your pdf to the dynamic
world of online information

SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family. (PubMed id 9581761)^{1, 3, 9} Kim J.H....Huganir R.L. (1998)
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. (PubMed id 21237447)^{1, 2} Hamdan F.F....Michaud J.L. (2011)
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. (PubMed id 19196676)^{1, 2} Hamdan F.F....Michaud J.L. (2009)
The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction. (PubMed id 18323856)^{1, 3} Pena V....Scheffzek K. (2008)
SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. (PubMed id 15312654)^{1, 2} Krapivinsky G.... Clapham D.E. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)^{1, 2} Nagase T....Ohara O. (2001)
Regulation of the neuron-specific Ras GTPase-activating protein, synGAP, by Ca2+/calmodulin-dependent protein kinase II. (PubMed id 14970204)^{1, 9} Oh J.S....Kennedy M.B. (2004)
Decreased expression of NMDA receptor-associated prot eins in frontal cortex of elderly patients with schizophrenia. (PubMed id 19483657)^{1, 9} Funk A.J....Meador-Woodruff J.H. (2009)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 8831	HGNC: 11497	Ensembl:ENSG00000197283	euGenes: HUgn8831	ECgene: SYNGAP1
H-InvDB: SYNGAP1

(According to HUGE)
About This Section

HUGE: KIAA1938

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SYNGAP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SYNGAP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SYNGAP1 gene:
Search GeneIP for patents involving SYNGAP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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SYNGAP1 Gene

synaptic Ras GTPase activating protein 1

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SYNGAP1 Gene

synaptic Ras GTPase activating protein 1

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