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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ENSG00000227460 Gene

protein-coding   GIFtS: 16
GCID: GC06Po33527          (predicted)

ENSG00000227460


  Search for ENSG00000227460
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
KIAA19383
Neuronal RasGAP3
Synaptic Ras GTPase-Activating Protein 13
Synaptic Ras-GAP 13

External Ids:    Ensembl: ENSG000002274607   UniProtKB: Q96PV03   

Export aliases for ENSG00000227460 gene to outside databases


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

GeneCards Summary for ENSG00000227460 Gene: 
ENSG00000227460 is a protein-coding gene.

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




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ENSG00000227460
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ENSG00000227460

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENSG00000227460


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_SSTOp21.32   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Po33527:       (about GC identifiers)

Start:
33,527,235 bp from pter      End:
33,560,852 bp from pter
Size:
33,618 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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 ENSG00000227460: NX_Q96PV0

Explore proteomics data for ENSG00000227460 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex
    disruption. Phosphorylation by PLK2 promotes its activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96PV0

  • ENSG00000227460 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ENSG00000227460 Protein Expression

    ENSEMBL proteins: 
     ENSP00000414259   ENSP00000378509   ENSP00000407995   ENSP00000348072   ENSP00000446753  

    Human Recombinant Protein Products for ENSG00000227460: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm ----
    GO:0031235intrinsic to internal side of plasma membrane ----
    GO:0043198dendritic shaft ----

    ENSG00000227460 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (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 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


    ENSG00000227460 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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-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 speciticity for Ras and Rap. May be
    involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity ----
    GO:0005097Rab GTPase activator activity ----
    GO:0005099Ras GTPase activator activity ----
    GO:0005515protein binding ----
    GO:0005543phospholipid binding ----
         
    ENSG00000227460 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ENSG00000227460

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/18 Interacting proteins for ENSG00000227460 (Q96PV03 ENSP000004142594) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    DLG3Q927963I2D: score=3 
    DLG4P783523I2D: score=3 
    ULK1O753853I2D: score=3 
    GRIN1Q055863I2D: score=2 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

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

    ENSG00000227460 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ENSG00000227460 (SYGP1)

    Search CenterWatch for drugs/clinical trials and news about ENSG00000227460 / SYGP1

    (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,
    RNAi Products from EMD Millipore,
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    About This Section

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461459(uc011jvi.1) ENST00000455687(uc011jvj.2 uc011jvk.2 uc011jvl.2)
    ENST00000395071 ENST00000414753 ENST00000490978 ENST00000355818 ENST00000484671
    ENST00000481000 ENST00000551507
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    GeneLoc Exon Structure


    (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
    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --


    See ENSG00000227460 Protein Expression from SPIRE MOPED and PaxDB    SABiosciences Custom PCR Arrays for ENSG00000227460
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    In Situ
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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)
    About This Section
      --

    ENSEMBL Gene Tree for ENSG00000227460 (if available)
    TreeFam Gene Tree for ENSG00000227460 (if available)

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

    (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) 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
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ENSG00000227460
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    (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.)
    About This Section

    ENSG00000227460 for disorders           About MalaCards
    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 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. Epilepsy and autism can be
    present in some patients. Note=The disease is caused by mutations affecting the gene represented in this entry


  • ENSG00000227460 for disorders           About GeneDecksing


    Export disorders for ENSG00000227460 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 ENSG00000227460 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ENSG00000227460)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. (PubMed id 23161826)2 Berryer M.H.... Di Cristo G. (2013)
    2. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. (PubMed id 21237447)2 Hamdan F.F....Michaud J.L. (2011)
    3. A de novo paradigm for mental retardation. (PubMed id 21076407)2 Vissers L.E.... Veltman J.A. (2010)
    4. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. (PubMed id 19196676)2 Hamdan F.F....Michaud J.L. (2009)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    6. SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. (PubMed id 15312654)2 Krapivinsky G.... Clapham D.E. (2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
    8. 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)2 Nagase T....Ohara O. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Ensembl:ENSG00000227460

    (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
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ENSG00000227460 gene:
    Search GeneIP for patents involving ENSG00000227460

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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