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

RAP1GAP2 Gene

protein-coding   GIFtS: 51
GCID: GC17P002680

RAP1 GTPase activating protein 2

(Previous names: GTPase activating RANGAP domain-like 4, GTPase activating...)
(Previous symbol: GARNL4)
 Explore 1 disease affiliated with
RAP1GAP2 via our new
 Human Malady Compendium 
Biological research products
for RAP1GAP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RAP1 GTPase Activating Protein 21 2     GTPase-Activating Rap/Ran-GAP Domain-Like Protein 42 3
GARNL41 2 3     RAP1GA32
GTPase Activating RANGAP Domain-Like 41 2     Rap1 GTPase-Activating Protein 22
GTPase Activating Rap/RanGAP Domain-Like 41 2     RAP1GA23
KIAA10391 3     Rap1GAP23

External Ids:    HGNC: 291761   Entrez Gene: 231082   Ensembl: ENSG000001323597   UniProtKB: Q684P53   

Export aliases for RAP1GAP2 gene to outside databases

Previous GC identifer: GC17P002646


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

Entrez Gene summary for RAP1GAP2:
This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in
platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules
from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: RPGP2_HUMAN, Q684P5
Function: GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the
putatively inactive GDP-bound state




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for RAP1GAP2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAP1GAP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RAP1GAP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAP1GAP2


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

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13.3

RAP1GAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAP1GAP2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P002680:  view genomic region     (about GC identifiers)

Start:
2,680,350 bp from pter      End:
2,941,035 bp from pter
Size:
260,686 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RPGP2_HUMAN, Q684P5 (See protein sequence)
Recommended Name: Rap1 GTPase-activating protein 2  
Size: 730 amino acids; 80056 Da
Subcellular location: Cytoplasm. Cytoplasm, perinuclear region
Secondary accessions: B2RTY5 Q684P4 Q6AI00 Q6ZVF0 Q9UPW2
Alternative splicing: 3 isoforms:  Q684P5-1   Q684P5-2   Q684P5-3   

Explore the universe of human proteins at neXtProt for RAP1GAP2: NX_Q684P5

Post-translational modifications:

  • In vitro phosphorylated by cGMP-dependent protein kinase 1 (cGKI) at Ser-7; the phosphorylation probably does not
  • regulate GAP activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q684P5

  • RAP1GAP2 Protein expression data from MOPED and PaxDb:    About this image 
    RAP1GAP2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001093868.1  NP_055900.4  

    ENSEMBL proteins: 
     ENSP00000439688   ENSP00000254695   ENSP00000389824   ENSP00000444890  
    Reactome Protein details: Q684P5
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    Uscn Proteins for RAP1GAP2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--
    GO:0048471perinuclear region of cytoplasm IEA--

    RAP1GAP2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RAP1GAP2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000331 Rap_GAP_dom

    Graphical View of Domain Structure for InterPro Entry Q684P5

    ProtoNet protein and cluster: Q684P5

    1 Blocks protein family: IPB000331 Rap/ran-GAP

    UniProtKB/Swiss-Prot: RPGP2_HUMAN, Q684P5
    Similarity: Contains 1 Rap-GAP domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPGP2_HUMAN, Q684P5
    Function: GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the
    putatively inactive GDP-bound state

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
         
    RAP1GAP2 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    Immune System1.00
    Adaptive Immune System0.59
    2Rap1 signalling
    Rap1 signalling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for RAP1GAP2
        Adaptive Immune System
    Immune System
    Rap1 signalling



    RAP1GAP2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAP1GAP2

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

    5/9 Interacting proteins for RAP1GAP2 (Q684P53 ENSP000002546954) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622583, ENSP000002643354I2D: score=3 STRING: ENSP00000264335
    YWHAZP631043, ENSP000003095034I2D: score=2 STRING: ENSP00000309503
    WNK1Q9H4A33, ENSP000003130594I2D: score=1 STRING: ENSP00000313059
    RAP1GAPENSP000003638974STRING: ENSP00000363897
    RASGRP1ENSP000003102444STRING: ENSP00000310244
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051056regulation of small GTPase mediated signal transduction IEA--

    RAP1GAP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for RAP1GAP2
    Search CenterWatch for drugs/clinical trials and news about RAP1GAP2 / RPGP2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAP1GAP2 gene (2 alternative transcripts): 
    NM_001100398.1  NM_015085.4  

    Unigene Cluster for RAP1GAP2:

    RAP1 GTPase activating protein 2
    Hs.499659  [show with all ESTs]
    Unigene Representative Sequence: AJ628446
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000540393 ENST00000254695(uc010ckd.3) ENST00000366401(uc010cke.3)
    ENST00000574515 ENST00000575979 ENST00000571555 ENST00000574709 ENST00000542807


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    Additional cDNA sequence: 

    AJ628446.1 AJ628447.1 AK000478.1 AK127021.1 BC037493.1 BC140870.1 BC140871.1 CR627427.1 

    11 DOTS entries:

    DT.100733844  DT.305882  DT.92019563  DT.100754994  DT.91965452  DT.120957070  DT.438305  DT.97772934 
    DT.120957061  DT.120957090  DT.86840456 

    24/93 AceView cDNA sequences (see all 93):

    AL534952 BU857899 BX646705 BM728780 CD653723 R27224 CR617475 AL550030 
    AI675965 BM791211 AI669323 AJ628447 AW874484 BQ233312 AA714570 AI444991 
    CB110895 AJ628446 T06969 BE047159 AI352338 BC037493 NM_015085 AW731864 

    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

    RAP1GAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGACGACGAC
    RAP1GAP2 Expression
    About this image

    RAP1GAP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartLeft VentricleHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney

    See RAP1GAP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAP1GAP2

    SOURCE GeneReport for Unigene cluster: Hs.499659

    UniProtKB/Swiss-Prot: RPGP2_HUMAN, Q684P5
    Tissue specificity: Isoform 1 and isoform 2 are expressed in platelets with isoform 2 being the predominant form.
    Expressed in lymphocytes, heart, testis and pancreas

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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

    This gene was present in the common ancestor of animals.

    Orthologs for RAP1GAP2 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RAP1GAP21 RAP1 GTPase activating protein 2 81.12(n)
    85.73(a)
      427841  NM_001031478.2  NP_001026649.2 
    lizard
    (Anolis carolinensis)
    Reptilia RAP1GAP26
    --
    83(a)
    1 ↔ 1
    GL343638.1(145021-186754)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1751451 zgc:175145 66.13(n)
    64.38(a)
      100170821  NM_001130656.1  NP_001124128.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rapgap16
    CG426296
    --
    25(a)
    14(a)
    1 ↔ many
    possible ortholog
    2L(7497805-7576604)
    X(12930022-12970156)
    worm
    (Caenorhabditis elegans)
    Secernentea F53A10.26
    Protein F53A10.2, isoform b
    28(a)
    1 → many
    II(1197381-1230787)


    ENSEMBL Gene Tree for RAP1GAP2 (if available)
    TreeFam Gene Tree for RAP1GAP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAP1GAP2 gene
    SIPA1L32  SIPA1L12  SIPA12  RAP1GAP2  SIPA1L22  GARNL32  
    1 SIMAP similar gene for RAP1GAP2 using alignment to 1 protein entry:     RPGP2_HUMAN:
    RAP1GAP

    RAP1GAP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/5294 NCBI SNPs in RAP1GAP2 are shown (see all 5294    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116533751,2
    H--2590225(+) CATTAG/TTAAGT 2 -- us2k10--------
    rs1142196831,2
    C,F--2590381(+) CTGCGG/ATTCAG 2 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1126607071,2
    C--2590488(+) GGCGGC/TGGGGG 2 -- us2k12Minor allele frequency- T:0.06CSA WA 120
    rs752234781,2
    F--2590970(+) GGCAGC/ACCTCG 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs733080231,2
    C--2591350(+) CTGTAC/TCACGG 2 -- ut511Minor allele frequency- T:0.50WA 2
    rs1126478761,2
    --2592473(+) TTCCTC/TGGTAA 2 -- int12Minor allele frequency- T:0.02CSA WA 120
    rs1133151111,2
    C,F--2592548(+) ATCCTC/TTGGCA 2 -- int11Minor allele frequency- T:0.02NA 120
    rs126032421,2
    C,F,H--2592651(+) CTGACG/ACCTGG 2 -- int16Minor allele frequency- A:0.06NS EA NA 542
    rs745065581,2
    --2593400(+) GATGGC/GTGTCA 2 -- int11Minor allele frequency- G:0.01WA 118
    rs72171351,2
    C,F,A,H--2593601(+) TGAAAG/AGGAAA 2 -- int1 trp310Minor allele frequency- A:0.08NS EA NA 916

    HapMap Linkage Disequilibrium report for RAP1GAP2 (2680350 - 2930350 bp, first 250kb of RAP1GAP2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for RAP1GAP2
         6 CNVs: 77499 102385 5848 67110 88312 102383
         6 Indels: 72772 102384 25813 25814 45531 25815

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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.)
    About This Section

    RAP1GAP2 for disorders           About GeneDecksing

    1 disease for RAP1GAP2:    About MalaCards
    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: RAP1GAP2 (1 document)

    Export disorders for RAP1GAP2 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 RAP1GAP2 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with RAP1GAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rap1GAP2 is a new GTPase-activating protein of Rap1 expressed in human platelets. (PubMed id 15632203)1, 2, 3 Schultess J.... Smolenski A.P. (2005)
    2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R....Ohara O. (1999)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    5. GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1 Aouizerat B.E....Tseng Z.H. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    8. Synaptotagmin-like protein 1 interacts with the GTPas e-activating protein Rap1GAP2 and regulates dense granule secretion in platelet s. (PubMed id 19528539)1 NeumA1ller O....Smolenski A.P. (2009)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    10. Cyclic nucleotide-dependent protein kinases inhibit binding of 14-3-3 to the GTPase-activating protein Rap1GAP2 in platelets. (PubMed id 18039662)1 Hoffmeister M....Smolenski A.P. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23108 HGNC: 29176 AceView: GARNL4 Ensembl:ENSG00000132359 euGenes: HUgn23108
    ECgene: RAP1GAP2 H-InvDB: RAP1GAP2

    (According to HUGE)
    About This Section
    HUGE: KIAA1039

    (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
    NameDescription
    PharmGKB entry for RAP1GAP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAP1GAP2 gene:
    Search GeneIP for patents involving RAP1GAP2

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



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