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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 specificity 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for ENSG00000227460
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 start of contig ALT_REF_LOCI_7      End:
33,560,852 bp from start of contig ALT_REF_LOCI_7
Size:
33,618 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 ENSG00000227460: NX_Q96PV0

Explore proteomics data for ENSG00000227460 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 ENSG00000227460 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000414259   ENSP00000378509   ENSP00000407995   ENSP00000348072   ENSP00000446753  

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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


    Find genes that share domains with ENSG00000227460           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, 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)

         Gene Ontology (GO): 5 molecular function terms:    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:0017124SH3 domain binding ----
         
    Find genes that share ontologies with ENSG00000227460           About GenesLikeMe


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with ENSG00000227460           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000227460
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000227460

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for ENSG00000227460 (Q96PV03 ENSP000004142594) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    KLHL17Q6TDP43, ENSP000003439304I2D: score=1 STRING: ENSP00000343930
    PDZK1Q5T2W13, ENSP000003421434I2D: score=1 STRING: ENSP00000342143
    DLG3Q927963I2D: score=3 
    DLG4P783523I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (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 ----

    Find genes that share ontologies with ENSG00000227460           About GenesLikeMe



    (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 compounds at ApexBio 

    Browse Tocris compounds for 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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™, 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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    ENSG00000227460 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000227460 Protein Expression
        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)
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      --

    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)
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      --

    (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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    Site Specific Mutation Identification with PCR Assays
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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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    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


  • Find genes that share disorders with ENSG00000227460           About GenesLikeMe


    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)
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    PubMed articles for ENSG00000227460 gene integrated from 10 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. (Hum. Mutat. 2013)
    2. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. (PubMed id 21237447)2 Hamdan F.F....Michaud J.L. (Biol. Psychiatry 2011)
    3. A de novo paradigm for mental retardation. (PubMed id 21076407)2 Vissers L.E.... Veltman J.A. (Nat. Genet. 2010)
    4. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. (PubMed id 19196676)2 Hamdan F.F....Michaud J.L. (N. Engl. J. Med. 2009)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 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. (Neuron 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 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. (DNA Res. 2001)

    (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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    Ensembl:ENSG00000227460

    (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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      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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