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SYNGAP1 Gene

protein-coding   GIFtS: 63
GCID: GC06P033387

Synaptic Ras GTPase Activating Protein 1

(Previous name: synaptic Ras GTPase activating protein 1 homolog (rat))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Synaptic Ras GTPase Activating Protein 11 2     SYNGAP2
Neuronal RasGAP2 3     Ras GTPase-Activating Protein SynGAP2
Synaptic Ras GTPase-Activating Protein 12 3     Ras/Rap GTPase-Activating Protein SynGAP2
MRD52 5     Synaptic Ras GTPase Activating Protein 1 Homolog2
Synaptic Ras GTPase Activating Protein 1 Homolog (Rat)1     Synaptic Ras GTPase Activating Protein, 135kDa2
RASA12     KIAA19383
RASA52     Synaptic Ras-GAP 13

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SYNGAP1 Gene:
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)

GeneCards Summary for SYNGAP1 Gene:
SYNGAP1 (synaptic Ras GTPase activating protein 1) is a protein-coding gene. Diseases associated with SYNGAP1 include proteus syndrome, and mental retardation, autosomal dominant 10. GO annotations related to this gene include Rab GTPase activator activity and phospholipid binding. An important paralog of this gene is DAB2IP.

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. Exhibits dual GTPase-activating specificity for Ras and Rap. May be
involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity)

Gene Wiki entry for SYNGAP1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  NT_167249.2  
Regulatory elements:
   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 plasmidSYNGAP1 promoter sequence
   Search Chromatin IP Primers for SYNGAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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+,NT_167249 4,868,093-4,901,710     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SYGP1_HUMAN, Q96PV0 (See protein sequence)
Recommended Name: Ras/Rap 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; Note=Translation N-terminally shortened;
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

Explore proteomics data for SYNGAP1 at MOPED

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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SYNGAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006763.2  
    ENSEMBL proteins: 
     ENSP00000403636   ENSP00000416519   ENSP00000412475   ENSP00000293748  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR023152 RasGAP_CS
     IPR001936 RasGAP
     IPR021887 DUF3498
     IPR008936 Rho_GTPase_activation_prot
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q96PV0

    ProtoNet protein and cluster: Q96PV0

    3 Blocks protein domains:
    IPB000008 C2 domain
    IPB001849 Pleckstrin-like
    IPB001936 Ras GTPase-activating protein


    UniProtKB/Swiss-Prot: SYGP1_HUMAN, Q96PV0
    Domain: The C2 domain is required for RapGAP activity (By similarity)
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Ras-GAP domain


    SYNGAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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. Exhibits dual GTPase-activating specificity for Ras and Rap. 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 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity ----
    GO:0005097Rab GTPase activator activity IEA--
    GO:0005099Ras GTPase activator activity IBA--
    GO:0005515protein binding ----
    GO:0017124SH3 domain binding IEA--
         
    SYNGAP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SYNGAP1:
     Increased S DNA content 

         5 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Syngap1):
     behavior/neurological  cellular  growth/size/body  mortality/aging  nervous system 

    SYNGAP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SYNGAP1: Syngap1tm1.1Mabk Syngap1tm1Rlh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SYNGAP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SYNGAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SYNGAP1

    miRNA
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    miRTarBase miRNAs that target SYNGAP1:
    hsa-mir-92b-3p (MIRT040627)

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    Selected qRT-PCR 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 plasmidSYNGAP1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNGAP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    plasma membrane3
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IBA--
    GO:0016020membrane ----
    GO:0031235intrinsic component of the cytoplasmic side of the plasma membrane IBA--
    GO:0043198dendritic shaft IEA--

    SYNGAP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SYNGAP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Development Angiotensin activation of ERK
    Development G Proteins mediated regulation MARK ERK signaling0.66
    2ERK Signaling
    Molecular Mechanisms of Cancer0.51
    3Ras signaling pathway
    Ras signaling pathway0.36
    4Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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


    1 Kegg Pathway  (Kegg details for SYNGAP1):
        Ras signaling pathway


    SYNGAP1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SYNGAP1
    Interactions:

        GeneGlobe Interaction Network for SYNGAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for SYNGAP1 (Q96PV03 ENSP000004036364) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG3Q927963, ENSP000003634804I2D: score=3 STRING: ENSP00000363480
    GRIN1Q055863, ENSP000003606164I2D: score=2 STRING: ENSP00000360616
    DLGAP4Q9Y2H03, ENSP000003630234I2D: score=1 STRING: ENSP00000363023
    GRIN2DO153993, ENSP000002632694I2D: score=1 STRING: ENSP00000263269
    KLHL17Q6TDP43, ENSP000003439304I2D: score=1 STRING: ENSP00000343930
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007265Ras protein signal transduction IEA--
    GO:0007389pattern specification process IEA--
    GO:0008542visual learning IEA--
    GO:0016358dendrite development IEA--

    SYNGAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SYNGAP1 (SYGP1)

    1 HMDB Compound for SYNGAP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    1 Novoseek inferred 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)



    SYNGAP1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479510(uc003oeo.1) ENST00000418600(uc011dri.2 uc010juy.3 uc010juz.3)
    ENST00000449372 ENST00000496374 ENST00000428982 ENST00000495633 ENST00000486399
    ENST00000470232 ENST00000293748
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    Selected qRT-PCR 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
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    Additional mRNA 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

    13 Alternative Splicing Database (ASD) splice patterns (SP) for SYNGAP1 (see first 5)    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:                                                                                                                                                            
    SP6:                                                                                                                                                            
    SP7:                                                                                                                                                            
    SP8:                                                                                                                                                            
    SP9:                                                                                                                                                            
    SP10:                                                                                                                                                            
    SP11:                                                                                                                                                            
    SP12:                                                                                                                                                            
    SP13:                                                                                                                                                            

    ExUns: 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21a · 21b ^ 22
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      
    SP6:                                                      
    SP7:                                                      
    SP8:                                                      
    SP9:  -     -     -                                       
    SP10:              -                                       
    SP11:                                                      
    SP12:                                                      
    SP13:                                            -         


    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SYNGAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTAATAAAC
    SYNGAP1 Expression
    About this image


    SYNGAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
    SYNGAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SYNGAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.586264
        Custom PCR Arrays for SYNGAP1
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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SYNGAP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Syngap11 , 5 synaptic Ras GTPase activating protein 1 homolog (rat)1, 5 91.84(n)1
    98.81(a)1
      17 (13.60 cM)5
    2400571  NM_001281491.11  NP_001268420.11 
     269414525 
    lizard
    (Anolis carolinensis)
    Reptilia SYNGAP16
    synaptic Ras GTPase activating protein 1
    77(a)
    1 ↔ 1
    GL343884.1(14782-74672)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia syngap11 synaptic Ras GTPase activating protein 1 74.34(n)
    82.34(a)
      100038210  NM_001134816.1  NP_001128288.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001511491 ras GTPase-activating protein SynGAP-like 66.56(n)
    68.48(a)
      100151149  XM_001919169.4  XP_001919204.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG426846
    --
    19(a)
    1 → many
    X(17604178-17645718)
    worm
    (Caenorhabditis elegans)
    Secernentea gap-26
    Protein GAP-2, isoform b (gap-2) mRNA, complete cd...
    24(a)
    1 → many
    X(9472469-9516435) WBGene00001516
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BUD26
    GTPase activating factor for Rsr1p/Bud1p required ...
    15(a)
    1 → many
    XI(266145-269459) YKL092C


    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)
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    Paralogs for SYNGAP1 gene
    DAB2IP2  RASA42  RASA12  RASAL32  RASA22  RASA4B2  RASAL22  RASA32  
    RASAL12  
    4 SIMAP similar genes for SYNGAP1 using alignment to 2 protein entries:     SYGP1_HUMAN (see all proteins):
    DAB2IP    RASAL2    RASAL3    FLJ00087

    SYNGAP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SYNGAP1 (see all 499)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692324
    Mental retardation, autosomal dominant 5 (MRD5)4--see VAR_0692322 W R mis40--------
    VAR_0692334
    Mental retardation, autosomal dominant 5 (MRD5)4--see VAR_0692332 P L mis40--------
    rs785254541,2
    C--33388294(+) TAAGGA/GATGGA 2 -- int10--------
    rs1835713701,2
    --33388450(+) AAAACA/GTCAAG 1 -- int10--------
    rs1865687221,2
    --33388544(+) GGGGGA/GATAAT 1 -- int10--------
    rs131975051,2
    C,F,H--33388579(+) AAgggG/Tcggaa 2 -- int13Minor allele frequency- T:0.01EA NS 332
    rs1912995931,2
    --33388622(+) AGATGA/GAGAGA 1 -- int10--------
    rs1444685711,2
    --33388782(+) TGGGAA/GTAGGG 1 -- int10--------
    rs1149936781,2
    C,F--33388894(+) TACCCC/GCTTCC 1 -- int11Minor allele frequency- G:0.09NA 120
    rs1480585761,2
    C--33389004(+) CCTTCC/TGTCCT 2 -- int10--------

    HapMap Linkage Disequilibrium report for SYNGAP1 (33387847 - 33421466 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SYNGAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv885769CNV Loss21882294
    nsv830637CNV Loss17160897
    nsv437503CNV Loss16327808
    nsv830635CNV Loss17160897

    Human Gene Mutation Database (HGMD): SYNGAP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SYNGAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for SYNGAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603384   
    OMIM disorders: 612621  
    UniProtKB/Swiss-Prot: SYGP1_HUMAN, Q96PV0
  • Mental retardation, autosomal dominant 5 (MRD5) [MIM:612621]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptive 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. Epilepsy and autism can be
    present in some patients. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for SYNGAP1:    
    About MalaCards
    proteus syndrome    mental retardation, autosomal dominant 10    transient cerebral ischemia    klippel-trenaunay syndrome
    brain ischemia    intellectual disability    mental retardation    autism spectrum disorder
    neuronitis    hypotonia    ischemia    brain injury
    cerebritis    systemic lupus erythematosus    lupus erythematosus    schizophrenia
    endotheliitis    multiple myeloma    myeloma

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

    SYNGAP1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SYNGAP1
    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)
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    PubMed articles for SYNGAP1 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with SYNGAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. (PubMed id 19196676)1, 2, 4 Hamdan F.F....Michaud J.L. (N. Engl. J. Med. 2009)
    2. 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. (Neuron 1998)
    3. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. (PubMed id 23161826)1, 2 Berryer M.H.... Di Cristo G. (Hum. Mutat. 2013)
    4. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. (PubMed id 21237447)1, 2 Hamdan F.F....Michaud J.L. (Biol. Psychiatry 2011)
    5. [De novo mutations in SYNGAP1 associated with non-syndromic mental retardation]. (PubMed id 20188038)1, 4 Hamdan F.F....Michaud J.L. (Med Sci (Paris) 2010)
    6. Functional impact of global rare copy number variation in autism spectrum disorders. (PubMed id 20531469)1, 4 Pinto D....Betancur C. (Nature 2010)
    7. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    8. The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction. (PubMed id 18323856)1, 3 Pena V....Scheffzek K. (EMBO Rep. 2008)
    9. 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. (Neuron 2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 8831 HGNC: 11497 Ensembl:ENSG00000197283 euGenes: HUgn8831 ECgene: SYNGAP1 Kegg: 8831
    H-InvDB: SYNGAP1

    (According to HUGE)
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    HUGE: KIAA1938

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SYNGAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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