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SRGAP1 Gene

protein-coding   GIFtS: 61
GCID: GC12P064238

SLIT-ROBO Rho GTPase Activating Protein 1

  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 11 2
Rho GTPase-Activating Protein 132 3
ARHGAP132 3
KIAA13043 5
SLIT-ROBO Rho GTPase-Activating Protein 12
srGAP13

External Ids:    HGNC: 173821   Entrez Gene: 575222   Ensembl: ENSG000001969357   OMIM: 6065235   UniProtKB: Q7Z6B73   

Export aliases for SRGAP1 gene to outside databases

Previous GC identifers: GC12P064016 GC12P064330 GC12P062524 GC12P061290


(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 SRGAP1 Gene:
SRGAP1 (SLIT-ROBO Rho GTPase activating protein 1) is a protein-coding gene. Diseases associated with SRGAP1 include papillary thyroid carcinoma, and hepatitis b. GO annotations related to this gene include Rho GTPase activator activity and Rho GTPase binding. An important paralog of this gene is ARHGAP5.

UniProtKB/Swiss-Prot: SRGP1_HUMAN, Q7Z6B7
Function: GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in
the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably
through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42

Gene Wiki entry for SRGAP1 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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SRGAP1 gene promoter:
         Nkx3-1   Nkx3-1 v4   POU3F1   Nkx3-1 v1   Nkx2-5   NF-kappaB   Nkx3-1 v2   STAT3   Nkx3-1 v3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRGAP1 promoter sequence
   Search Chromatin IP Primers for SRGAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SRGAP1


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

Entrez Gene cytogenetic band: 12q14.2   Ensembl cytogenetic band:  12q14.2   HGNC cytogenetic band: 12q13.13

SRGAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRGAP1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P064238:  view genomic region     (about GC identifiers)

Start:
64,238,073 bp from pter      End:
64,541,613 bp from pter
Size:
303,541 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: SRGP1_HUMAN, Q7Z6B7 (See protein sequence)
Recommended Name: SLIT-ROBO Rho GTPase-activating protein 1  
Size: 1085 amino acids; 124264 Da
Subunit: Homodimer (Probable). Forms a heterooligomer with SRGAP2 and SRGAP3 through its F-BAR domain. Interacts
with ROBO1, CDC42 and RHOA. Interacts with FASLG
Sequence caution: Sequence=BAA92542.1; Type=Erroneous initiation; Sequence=BAA92542.1; Type=Miscellaneous
discrepancy; Note=Intron retention;
Secondary accessions: Q9H8A3 Q9P2P2
Alternative splicing: 2 isoforms:  Q7Z6B7-1   Q7Z6B7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SRGAP1: NX_Q7Z6B7

Explore proteomics data for SRGAP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SRGAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065813.1  
    ENSEMBL proteins: 
     ENSP00000347198   ENSP00000437948   ENSP00000350480  
    Reactome Protein details: Q7Z6B7

    SRGAP1 Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    ARHGAP: Rho GTPase activating proteins

    4 InterPro protein domains:
     IPR001060 FCH_dom
     IPR008936 Rho_GTPase_activation_prot
     IPR001452 SH3_domain
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry Q7Z6B7

    ProtoNet protein and cluster: Q7Z6B7

    4 Blocks protein domains:
    IPB000198 RhoGAP domain
    IPB001060 Cdc15/Fes/CIP4
    IPB001452 SH3 domain signature
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: SRGP1_HUMAN, Q7Z6B7
    Domain: The F-BAR domain mediates oligomerization, binds membranes, and constrains plasma membrane protrusions
    Similarity: Contains 1 FCH domain
    Similarity: Contains 1 Rho-GAP domain
    Similarity: Contains 1 SH3 domain


    SRGAP1 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: SRGP1_HUMAN, Q7Z6B7
    Function: GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in
    the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably
    through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005100Rho GTPase activator activity IEA--
    GO:0005515protein binding IPI17500595
    GO:0017048Rho GTPase binding IEA--
         
    SRGAP1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SRGAP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SRGAP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SRGAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SRGAP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SRGAP1:
    hsa-mir-1 (MIRT023976), hsa-mir-92b-5p (MIRT037797), hsa-mir-744-5p (MIRT037552), hsa-mir-214-3p (MIRT005811), hsa-mir-335-5p (MIRT018618), hsa-mir-145-5p (MIRT005810)

    Block miRNA regulation of human, mouse, rat SRGAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SRGAP1 (see all 130):
    hsa-miR-3938 hsa-miR-106a hsa-miR-519a hsa-miR-642b hsa-miR-200b hsa-miR-130a* hsa-miR-23c hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidSRGAP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SRGAP1
    Predesigned siRNA for gene silencing in human, mouse, rat SRGAP1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SRGAP1

    Clone
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    OriGene clones in human, mouse for SRGAP1 (see all 6)
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    GenScript: all cDNA clones in your preferred vector: SRGAP1 (NM_020762)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SRGAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SRGAP1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRGAP1


    (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
    cytosol4
    nucleus3
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--

    SRGAP1 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 SRGAP1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Cytoskeleton remodeling Slit Robo signaling0.92
    2L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    3Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    4Signaling by Robo receptor
    Inactivation of Cdc42 and Rac0.00
    Signaling by Robo receptor
    5Signaling by GPCR
    Signal Transduction0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SRGAP1
        Guidance Cues and Growth Cone Motility
    Signaling by Slit

    1 GeneGo (Thomson Reuters) Pathway for SRGAP1
        Development Slit-Robo signaling

    1 BioSystems Pathway for SRGAP1
        Regulation of RhoA activity

    2 Reactome Pathways for SRGAP1
        Inactivation of Cdc42 and Rac
    Rho GTPase cycle


    1 Kegg Pathway  (Kegg details for SRGAP1):
        Axon guidance


    SRGAP1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SRGAP1: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SRGAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for SRGAP1 (Q7Z6B72, 3 ENSP000003471984) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-3308436 I2D: score=1 STRING: ENSP00000309503
    RHOAP615863, ENSP000004001754I2D: score=2 STRING: ENSP00000400175
    CDC42P609533, ENSP000003144584I2D: score=1 STRING: ENSP00000314458
    BMPR1BO002383, ENSP000002645684I2D: score=3 STRING: ENSP00000264568
    FASLGP480233, ENSP000003566944I2D: score=1 STRING: ENSP00000356694
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007266Rho protein signal transduction IEA--
    GO:0007411axon guidance TAS--
    GO:0016477cell migration IEA--

    SRGAP1 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 SRGAP1 (SRGP1)



    (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 SRGAP1 gene: 
    NM_020762.2  

    Unigene Clusters for SRGAP1:

    SLIT-ROBO Rho GTPase activating protein 1
    Hs.210751  [show with all ESTs], Hs.593803  [show with all ESTs]
    Unigene Representative Sequences: NM_020762, AK123684
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355086(uc010ssp.1) ENST00000537556(uc001srt.3) ENST00000543397
    ENST00000542381 ENST00000537585 ENST00000542841 ENST00000357825(uc001srv.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat SRGAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SRGAP1 (see all 130):
    hsa-miR-3938 hsa-miR-106a hsa-miR-519a hsa-miR-642b hsa-miR-200b hsa-miR-130a* hsa-miR-23c hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidSRGAP1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SRGAP1 (NM_020762)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SRGAP1
      QuantiTect SYBR Green Assays in human, mouse, rat SRGAP1
      QuantiFast Probe-based Assays in human, mouse, rat SRGAP1

    Additional mRNA sequence: AK123684.1 

    12 DOTS entries:

    DT.311945  DT.70101683  DT.95367511  DT.95367516  DT.97786615  DT.97796570  DT.121175409  DT.95262121 
    DT.100044417  DT.101987523  DT.95157971  DT.99938863 

    Selected AceView cDNA sequences (see all 80):

    BF448682 CK902898 H63285 CA840949 BM683453 BU520980 AI598011 Z45072 
    T35541 BM718396 AA243219 BM912471 BU155195 CK902899 D81915 AI424014 
    CB119832 BX504557 AA837234 BI092019 AI914442 CA489406 BG186628 AB037725 

    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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    SRGAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCATTACA
    SRGAP1 Expression
    About this image


    SRGAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             Striatum
     
     Testis (Reproductive System)
    SRGAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SRGAP1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.210751 Hs.593803

    UniProtKB/Swiss-Prot: SRGP1_HUMAN, Q7Z6B7
    Tissue specificity: Expressed in brain, lung, kidney, and testis

        Pathway & Disease-focused RT2 Profiler PCR Array including SRGAP1: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRGAP1

    (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.

    Orthologs for SRGAP1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srgap11 , 5 SLIT-ROBO Rho GTPase activating protein 11, 5 88.73(n)1
    97.97(a)1
      10 (69.96 cM)5
    1176001  NM_001081037.21  NP_001074506.11 
     1217809915 
    chicken
    (Gallus gallus)
    Aves SRGAP11 SLIT-ROBO Rho GTPase activating protein 1 83.52(n)
    95.57(a)
      417821  NM_001080101.1  NP_001073570.1 
    lizard
    (Anolis carolinensis)
    Reptilia SRGAP16
    SLIT-ROBO Rho GTPase activating protein 1
    92(a)
    1 ↔ 1
    5(50572516-50711030)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.91112 Xenopus laevis transcribed sequence with weak similarity more 79.55(n)    BG406652.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636722 hypothetical protein MGC63672 74.44(n)   393416  BC054931.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0047721 AgaP_AGAP004772 50.58(n)
    43.48(a)
      1278454  XM_318044.4  XP_318044.4 


    ENSEMBL Gene Tree for SRGAP1 (if available)
    TreeFam Gene Tree for SRGAP1 (if available)

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

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    Paralogs for SRGAP1 gene
    ARHGAP52  ARHGAP172  ARHGAP242  ARHGAP222  SRGAP32  ARHGAP352  ARHGAP442  SH3BP12  
    ARHGAP252  SRGAP22  ARHGAP42  
    8 SIMAP similar genes for SRGAP1 using alignment to 3 protein entries:     SRGP1_HUMAN (see all proteins):
    KIAA1156    SRGAP2C    SRGAP3    SRGAP2    C1    ARHGAP21
    ARHGAP4    ARHGAP12

    SRGAP1 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 SRGAP1 (see all 5697)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1511366291,2
    Cuntested164417880(+) CAGAAC/TGGGCA 1 -- int10--------
    rs1846861621,2
    --61288170(+) TCTTCA/GTTATA 1 -- us2k10--------
    rs680825621,2
    C--61430033(-) TATAA-/AAA/AT
            
    ATATA
    2 -- int1 cds11NA 2
    rs40450691,2
    C--64133751(-) ACTTTAT/-ATATA 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1177962311,2
    C,F--64236596(+) ATAGAT/GCTTGT 1 -- us2k11Minor allele frequency- G:0.02EA 120
    rs79587911,2
    A--64236680(+) gtgagC/Tggatc 1 -- us2k1 tfbs30--------
    rs1886593061,2
    --64236991(+) TTGGAC/TCTTGG 1 -- us2k10--------
    rs783192511,2
    C,F--64237340(+) CAAAAG/ACCCCA 1 -- us2k13Minor allele frequency- A:0.08WA NA EA 358
    rs1147643411,2
    C,F--64237361(+) CGCCAG/CAGCCA 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs733134791,2
    C--64237404(+) CCTGCC/TGCCGG 1 -- us2k15Minor allele frequency- T:0.40WA CSA NA EA 361

    HapMap Linkage Disequilibrium report for SRGAP1 (64238073 - 64488073 bp, first 250kb of SRGAP1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SRGAP1 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2577852CNV Deletion19546169
    esv2673319CNV Deletion23128226
    esv2745984CNV Deletion23290073
    esv2674940CNV Deletion23128226
    esv2656891CNV Deletion23128226
    nsv507648CNV Insertion20534489
    nsv747CNV Loss18451855
    nsv438217CNV Loss16468122
    esv25312CNV Loss19812545
    nsv519341CNV Loss19592680

    Human Gene Mutation Database (HGMD): SRGAP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SRGAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for SRGAP1

    (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: 606523    OMIM disorders: --

    7 diseases for SRGAP1:    
    About MalaCards
    papillary thyroid carcinoma    hepatitis b    hepatitis    lung cancer
    thyroiditis    malaria    neuronitis


    SRGAP1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SRGAP1
    Human Genome Epidemiology (HuGE) Navigator: SRGAP1 (1 document)

    Export disorders for SRGAP1 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 SRGAP1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with SRGAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. (PubMed id 11672528)1, 2, 3 Wong K.... Rao Y. (Cell 2001)
    2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M.... Janssen O. (BMC Immunol. 2009)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    6. FNBP2 gene on human chromosome 1q32.1 encodes ARHGAP family protein with FCH, FBH, RhoGAP and SH3 domains. (PubMed id 12736724)1, 9 Katoh M. and Katoh M. (Int. J. Mol. Med. 2003)
    7. SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility. (PubMed id 23539728)1 He H....de la Chapelle A. (J. Clin. Endocrinol. Metab. 2013)
    8. The F-BAR domains from srGAP1, srGAP2, and srGAP3 differentially regulate membrane deformation. (PubMed id 22467852)2 Coutinho-Budd J.... Polleux F. (J. Cell Sci. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. The corticofugal neuron-associated genes ROBO1, SRGAP1, and CTIP2 exhibit an anterior to posterior gradient of expression in early fetal human neocortex development. (PubMed id 21060114)1 Ip B.K....Clowry G.J. (Cereb. Cortex 2011)

    (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)
    About This Section

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    Entrez Gene: 57522 HGNC: 17382 AceView: SRGAP1 Ensembl:ENSG00000196935 euGenes: HUgn57522
    ECgene: SRGAP1 Kegg: 57522 H-InvDB: SRGAP1

    (According to HUGE)
    About This Section

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    HUGE: KIAA1304

    (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 SRGAP1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SRGAP1 gene:
    Search GeneIP for patents involving SRGAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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