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SRGAP2C Gene

protein-coding   GIFtS: 30
GCID: GC01P121091

SLIT-ROBO Rho GTPase Activating Protein 2C

(Previous name: SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1)
(Previous symbol: SRGAP2P1)
  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
SLIT-ROBO Rho GTPase Activating Protein 2C1 2
SRGAP2P11 2 3
SLIT-ROBO Rho GTPase Activating Protein 2 Pseudogene 11 2 3
SLIT-ROBO Rho GTPase-Activating Protein 2C2

External Ids:    HGNC: 305841   Entrez Gene: 6534642   Ensembl: ENSG000001719437   OMIM: 6147045   UniProtKB: P0DJJ03   

Export aliases for SRGAP2C 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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Entrez Gene summary for SRGAP2C Gene:
This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus
resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein
lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating
protein 2, and acts antagonistically to these proteins in cortical neuron development. (provided by RefSeq, Dec
2012)

GeneCards Summary for SRGAP2C Gene:
SRGAP2C (SLIT-ROBO Rho GTPase activating protein 2C) is a protein-coding gene. Diseases associated with SRGAP2C include cerebritis, and neuronitis. GO annotations related to this gene include protein heterodimerization activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: SRG2C_HUMAN, P0DJJ0
Function: Involved in dendritic spine maturation through interaction with and inhibition of SRGAP2. Reduces the
rate of spine maturation and indirectly increases neuronal migration. Changes dendritic spine morphology and
density and may have implications for cognition, learning and memory




(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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SRGAP2C
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SRGAP2C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SRGAP2C


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

Entrez Gene cytogenetic band: 1p11.2   Ensembl cytogenetic band:  1p11.2   HGNC cytogenetic band: 1p11.2

SRGAP2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRGAP2C gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P121091:  view genomic region     (about GC identifiers)

Start:
121,090,793 bp from pter      End:
121,134,742 bp from pter
Size:
43,950 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, 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: SRG2C_HUMAN, P0DJJ0 (See protein sequence)
Recommended Name: SLIT-ROBO Rho GTPase-activating protein 2C  
Size: 459 amino acids; 53484 Da
Subunit: Homodimer. Interacts with SRGAP2; formation of the heterodimer alters SRGAP2 function
Miscellaneous: This is one of the 3 duplications of the ancestral gene SRGAP2 which has undergone human-specific
segmental gene duplications. The appearance of SRGAP2C in the human genome is estimated to 2,4 million years ago,
corresponding to the beginning of neocortex expansion in human evolution and it may have played an important role
in this process. 2 other copies of SRGAP2, SRGAP2B and SRGAP2D, were identified in some individuals but most
probably do not produce a functional protein (PubMed:22559944). SRGAP2C is the only copy to be fixed at a diploid
state in the genome and to exhibit strong mRNA expression. A cDNA specific for that gene was used in the
functional study (PubMed:22559944)
Caution: The retained sequence for SRGAP2C might not align to the reference genome due to assembly discrepancies

Explore the universe of human proteins at neXtProt for SRGAP2C: NX_P0DJJ0

Explore proteomics data for SRGAP2C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys33
  • Modification sites at PhosphoSitePlus

  • See SRGAP2C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001258801.1  

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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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    1 InterPro protein domain:
     IPR001060 FCH_dom

    Graphical View of Domain Structure for InterPro Entry P0DJJ0

    ProtoNet protein and cluster: P0DJJ0

    UniProtKB/Swiss-Prot: SRG2C_HUMAN, P0DJJ0
    Similarity: Contains 1 FCH domain


    SRGAP2C 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: SRG2C_HUMAN, P0DJJ0
    Function: Involved in dendritic spine maturation through interaction with and inhibition of SRGAP2. Reduces the
    rate of spine maturation and indirectly increases neuronal migration. Changes dendritic spine morphology and
    density and may have implications for cognition, learning and memory

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042803protein homodimerization activity IPI--
    GO:0046982protein heterodimerization activity IPI--
         
    SRGAP2C for ontologies           About GeneDecksing


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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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    (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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    Interactions:

        Search GeneGlobe Interaction Network for SRGAP2C

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0021816extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration IDA--
    GO:0051490negative regulation of filopodium assembly IDA--
    GO:0061000negative regulation of dendritic spine development IDA--
    GO:2001224positive regulation of neuron migration IDA--

    SRGAP2C 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
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    Browse Tocris compounds for SRGAP2C (SRG2C)



    (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 SRGAP2C gene: 
    NM_001271872.1  

    Unigene Cluster for SRGAP2C:

    SLIT-ROBO Rho GTPase activating protein 2C
    Hs.523529  [show with all ESTs]
    Unigene Representative Sequence: BC017972
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304465 ENST00000367123(uc001eis.2)
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    Additional mRNA sequence: 

    BC017972.1 DQ786199.1 

    10 DOTS entries:

    DT.412097  DT.121370749  DT.121370688  DT.121460324  DT.121426206  DT.434729  DT.92420779  DT.95254487 
    DT.120678401  DT.95254488 

    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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    SRGAP2C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SRGAP2C Expression
    About this image

    SRGAP2C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SRGAP2C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.523529

    UniProtKB/Swiss-Prot: SRG2C_HUMAN, P0DJJ0
    Tissue specificity: Ubiquitously expressed with higher expression in cerebellum. Probably expressed in fetal and
    adult neurons (at protein level)

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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 SRGAP2C (if available)
    TreeFam Gene Tree for SRGAP2C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SRGAP2C gene
    6 SIMAP similar genes for SRGAP2C using alignment to 1 protein entry:     SRG2C_HUMAN:
    SRGAP2    SRGAP1    SRGAP3    KIAA1156    C1    ARHGAP4

    SRGAP2C 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 SRGAP2C (see all 260)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3761911971,2
    C--120752452(+) GAACCC/TGGAGG 1 -- int10--------
    rs770438961,2
    F--120755968(+) TACTAG/AAAATA 1 -- int12Minor allele frequency- A:0.50NA 4
    rs748212811,2
    F--120755983(+) AATTAG/TCCAGG 1 -- int11Minor allele frequency- T:0.50NA 4
    rs798581001,2
    F--120755990(+) AGGCGG/TTAGTG 1 -- int12Minor allele frequency- T:0.50NA 4
    rs776483021,2
    C--120756031(+) TGAGGG/CAGGAG 1 -- int13Minor allele frequency- C:0.00NA 6
    rs3701749951,2
    C--120758370(+) CTACCC/TCCTCA 1 -- int10--------
    rs3683966551,2
    C--120759880(+) GAAAA-/CA    
       CTGAA
    ACTGA
    1 -- int10--------
    rs3750561831,2
    C--120760312(+) ATGAT-/AAA   
       
    /AAAA
    AAAAA
    2 -- int1 cds10--------
    rs3726304471,2
    C--120762990(+) GCACA-/CT    
       TGAGC
    CTTAG
    1 -- int10--------
    rs3720368501,2
    C--120763497(+) AAAGT-/AGAAGAAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SRGAP2C (121090793 - 121134742 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SRGAP2C: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SRGAP2C
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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.)
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    OMIM gene information: 614704    OMIM disorders: --

    2 diseases for SRGAP2C:    About MalaCards
    cerebritis    neuronitis


    SRGAP2C for disorders           About GeneDecksing


    Export disorders for SRGAP2C 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 SRGAP2C gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SRGAP2C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. (PubMed id 22559943)1, 2, 3 Dennis M.Y....Eichler E.E. (Cell 2012)
    2. Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation. (PubMed id 22559944)1, 2, 3 Charrier C....Polleux F. (Cell 2012)
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    4. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)1 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    5. Lineage-specific gene duplication and loss in human and great ape evolution. (PubMed id 15252450)1 Fortna A....Sikela J.M. (PLoS Biol. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 653464 HGNC: 30584 Ensembl:ENSG00000171943 euGenes: HUgn653464 ECgene: SRGAP2C
    H-InvDB: SRGAP2C

    (According to HUGE)
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    (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 SRGAP2C 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 SRGAP2C gene:
    Search GeneIP for patents involving SRGAP2C

    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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