SYNGAP1 Gene
protein-coding GIFtS : 62 GCID: GC06 P033387
synaptic Ras GTPase activating protein 1 synaptic Ras GTPase activating protein 1 homolog (rat)...
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Aliasesfor SYNGAP1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Synaptic Ras GTPase Activating Protein 1 1 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
Export aliases for SYNGAP1 gene to outside databases Previous GC identifers: GC06U990169 GC06P033384 GC06P033434 GC06P033495 GC06P033129
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Summariesfor SYNGAP1 gene (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-cAMPpathway. 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
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Genomic Viewsfor SYNGAP1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,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 Search SABiosciences Chromatin IP Primers for SYNGAP1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
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
Entrez Gene Ensembl 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 : Chr 6+,ALT_REF_LOCI_7 33,457,558-33,491,175
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Proteinsfor SYNGAP1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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 ,
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: Size : 1343 amino acids; 148284 DaSubunit : Interacts KLHL17, CAMK2A and CAMK2B (By similarity). Interacts with MPDZCaution : It is uncertain whether Met-1 or Met-16 is the initiator methionineSequence caution : Sequence=BAB67831.2; Type=Erroneous initiation;Secondary accessions : A2AB17 A2BEL6 A2BEL7 A8MQC4 Q8TCS2 Q9UGE2Alternative 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 PhosphoSitePlus 2 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 for SYNGAP1: Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view) : About this table
About GeneDecksing SYNGAP1 Antibody Products: Assay Products for SYNGAP1:
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Protein
Domains /for SYNGAP1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5/9 InterPro domains/families (see all 9 ):
Graphical View of Domain Structure for InterPro Entry Q96PV0 ProtoNet protein and cluster: Q96PV0
3 Blocks protein families : IPB000008 IPB001849 IPB001936 UniProtKB/Swiss-Prot: SYGP1_HUMAN, Q96PV0 Similarity : Contains 1 C2 domainSimilarity : Contains 1 PH domainSimilarity : Contains 1 Ras-GAP domain
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Functionfor SYNGAP1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: SYGP1_HUMAN, Q96PV0 Function : Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMPpathway. 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 Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6 ): About this table
About GeneDecksing Phenotypes: 1 GenomeRNAi human phenotype for SYNGAP1 :5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Syngap1) :About GeneDecksing Animal Models: Syngap1 tm1.1Mabk Syngap1 tm1Rlh Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 4 )human mouse rat see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: SYNGAP1 (NM_006772 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SYNGAP1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse rat SYNGAP1
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNGAP1
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Pathways & Interactionsfor SYNGAP1 gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 1 Development Angiotensin activation of ERK 2 Neuroscience 3 Rho Family GTPases
Pathway sources See GeneCards unified pathways Show all pathways 1 1 1 1 About GeneDecksing Interactions: SABiosciences Gene Network CentralTM 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 (Q96PV0 3 ENSP00000403636 4 via UniProtKB, MINT, STRING , and/or I2D (see all 18 )About this table Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16 ): About this table
About GeneDecksing
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Drugs & Compoundsfor SYNGAP1 gene (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 About GeneDecksing Browse Tocris compounds for SYNGAP1 1 HMDB Compound for SYNGAP1 About this table 1 Novoseek chemical compound relationship for SYNGAP1 gene About this table SYNGAP1 / SYGP1
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Transcriptsfor SYNGAP1 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
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 Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 4 )human mouse rat see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: SYNGAP1 (NM_006772 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SYNGAP1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse rat SYNGAP1
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
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Expression for SYNGAP1 gene
(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 ,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 image BioGPS CGAP TAG: TTTAATAAACAbout this image SYNGAP1 expression in embryonic tissues and stem cells About this table
1 LifeMap In Vivo Development Anatomical Compartment/CellTissue Category (developmental path) Kidney Afferent Arteriole Juxtaglomerular Cells Kidney, Smooth Muscle Expression: Experimental details:
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 Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNGAP1
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Orthologsfor SYNGAP1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for SYNGAP1 gene from 4/16 species (see all 16 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
lizard Reptilia SYNGAP16
--
74(a)
1 ↔ 1
GL343884.1(14974-74672)
zebrafish Actinopterygii LOC1001511491
ras GTPase-activating protein SynGAP-like
68.79(n) 71.89(a)
100151149 XM_001919169.3 XP_001919204.3
fruit fly Insecta CG426846
--
15(a)
1 → many
X(17604178-17645718)
worm 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)
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Paralogsfor SYNGAP1 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SYNGAP1 gene DAB2IP 2 RASA4 2 RASA1 2 RASAL3 2 RASA2 2 RASA4B 2 RASA3 2 RASAL2 2 RASAL1 2 4 SIMAP similar genes for SYNGAP1 using alignment to 3 protein entries: SYGP1_HUMAN (see all proteins ):DAB2IP RASAL2 FLJ00087 RASAL3 About GeneDecksing
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Genomic Variantsfor SYNGAP1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 6 pos Sequence # AA Type More # Allele Pop Total More
Browse Tocris compounds for 
Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine 
Anatomical Compartment 
Negative
Selective marker
Curated
In-situ hybridization