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GRAP2 Gene

protein-coding   GIFtS: 65
GCID: GC22P040297

GRB2-Related Adaptor Protein 2

  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
GRB2-Related Adaptor Protein 21 2     GRPL2
GRID2 3 5     GrbX2
Adapter Protein GRID2 3     Grf402
Grf40 Adapter Protein2 3     Mona2
Growth Factor Receptor-Binding Protein2 3     GRB2-Related Adapter Protein 22
Hematopoietic Cell-Associated Adapter Protein GrpL2 3     GRB2-Related Protein With Insert Domain2
GADS2 3     grf-402
GRB2L2 3     Growth Factor Receptor-Bound Protein 2-Related Adaptor Protein 22
GRBLG2 3     Hematopoietic Cell-Associated Adaptor Protein GRPL2
P382 3     SH3-SH2-SH3 Adaptor Molecule2
GRB-2-Like Protein2 3     GRBX3
SH3-SH2-SH3 Adapter Mona2 3     Grf-403
GRAP-22     Protein GADS3

External Ids:    HGNC: 45631   Entrez Gene: 94022   Ensembl: ENSG000001003517   OMIM: 6045185   UniProtKB: O757913   

Export aliases for GRAP2 gene to outside databases

Previous GC identifers: GC22P036911 GC22P038540 GC22P038621 GC22P023272


(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 GRAP2 Gene:
This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in
leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor
protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other
proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its
SH3 domains. Transcript variants utilizing alternative polyA sites exist. (provided by RefSeq, Jul 2008)

GeneCards Summary for GRAP2 Gene:
GRAP2 (GRB2-related adaptor protein 2) is a protein-coding gene. Diseases associated with GRAP2 include potter's syndrome, and retinal telangiectasia. GO annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is GRAP.

UniProtKB/Swiss-Prot: GRAP2_HUMAN, O75791
Function: Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc

Gene Wiki entry for GRAP2 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_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GRAP2 gene promoter:
         TBP   AML1a   Brachyury   CUTL1   STAT5A   IRF-2   SRY   NF-AT4   NF-AT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRAP2 promoter sequence
   Search Chromatin IP Primers for GRAP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GRAP2


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

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.2

GRAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRAP2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P040297:  view genomic region     (about GC identifiers)

Start:
40,297,086 bp from pter      End:
40,369,725 bp from pter
Size:
72,640 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: GRAP2_HUMAN, O75791 (See protein sequence)
Recommended Name: GRB2-related adapter protein 2  
Size: 330 amino acids; 37909 Da
Subunit: Interacts with phosphorylated LIME1 upon TCR activation (By similarity). Interacts with phosphorylated
LAT and LAX1 upon TCR activation. Interacts with SHB. Interacts with PTPN23
Secondary accessions: O43726 Q9NRB7

Explore the universe of human proteins at neXtProt for GRAP2: NX_O75791

Explore proteomics data for GRAP2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys141
  • Modification sites at PhosphoSitePlus

  • See GRAP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004801.1  
    ENSEMBL proteins: 
     ENSP00000339186   ENSP00000396355   ENSP00000385607   ENSP00000444734   ENSP00000446350  
     ENSP00000382040   ENSP00000442195  
    Reactome Protein details: O75791

    GRAP2 Human Recombinant Protein Products:

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    Novus Biologicals GRAP2 Proteins
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    GRAP2 Antibody Products:

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    GRAP2 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GRAP2
    Cloud-Clone Corp. CLIAs for GRAP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SH2D: SH2 domain containing

    2 InterPro protein domains:
     IPR001452 SH3_domain
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry O75791

    ProtoNet protein and cluster: O75791

    2 Blocks protein domains:
    IPB000980 SH2 domain signature
    IPB001452 SH3 domain signature


    UniProtKB/Swiss-Prot: GRAP2_HUMAN, O75791
    Similarity: Belongs to the GRB2/sem-5/DRK family
    Similarity: Contains 1 SH2 domain
    Similarity: Contains 2 SH3 domains


    GRAP2 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: GRAP2_HUMAN, O75791
    Function: Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc

         Genatlas biochemistry entry for GRAP2:
    Grb2-related adaptor protein 2,expressed in thymus and spleen interacting with cKIT,EPOR,coupling tyrosine kinase
    to the RAS pathway

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity TAS9878555
    GO:0005515protein binding IPI12359715
         
    GRAP2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GRAP2:
     Increased S DNA content  Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Grap2):
     hematopoietic system  immune system 

    GRAP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GRAP2: Grap2tm1Amch Grap2tm1Eac

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GRAP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GRAP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GRAP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GRAP2

    miRNA
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    Block miRNA regulation of human, mouse, rat GRAP2 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate GRAP2:
    hsa-miR-4286 hsa-miR-502-5p hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidGRAP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GRAP2
    Predesigned siRNA for gene silencing in human, mouse, rat GRAP2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GRAP2 (NM_004810)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GRAP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GRAP2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRAP2


    (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 UniProtKB/Swiss-Prot
    GRAP2_HUMAN, O75791: Nucleus. Cytoplasm. Endosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    nucleus5
    cytosol4
    cytoskeleton1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005768endosome IDA--
    GO:0005829cytosol TAS--

    GRAP2 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 GRAP2 About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1CD28 co-stimulation
    CD28 co-stimulation0.66
    CTLA4 Signaling0.30
    Costimulation by the CD28 family0.44
    2B cell receptor signaling pathway (KEGG)
    T cell receptor signaling pathway0.38
    TCR Signaling Pathway0.36
    3TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    ITK and TCR Signaling0.54
    TCR Signaling0.68
    4Signaling by FGFR
    DAP12 signaling0.89
    DAP12 interactions0.89
    5PI-3K cascade
    Signaling by SCF-KIT0.72
    Fc epsilon receptor (FCERI) signaling0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GRAP2 (see all 9)
        ICos-ICosL Pathway in T-Helper Cell
    Rap1 Pathway
    CD28 Signaling in T-Helper Cell
    CTLA4 Signaling
    ITK and TCR Signaling

    1 GeneGo (Thomson Reuters) Pathway for GRAP2
        Immune response CD28 signaling

    5 BioSystems Pathways for GRAP2
        TCR Signaling Pathway
    TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells
    JNK signaling in the CD4+ TCR pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)

    Selected Reactome Pathways for GRAP2 (see all 6)
        FCERI mediated MAPK activation
    DAP12 signaling
    Signaling by SCF-KIT
    CD28 co-stimulation
    FCERI mediated Ca+2 mobilization


    1 Kegg Pathway  (Kegg details for GRAP2):
        T cell receptor signaling pathway


    GRAP2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GRAP2
    Interactions:

        GeneGlobe Interaction Network for GRAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GRAP2 (O757911, 2, 3 ENSP000003391864) via UniProtKB, MINT, STRING, and/or I2D (see all 101)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LCP2Q130941, 2, 3, ENSP000000467944EBI-740418,EBI-346946 MINT-4302429 MINT-7306546 MINT-4302374 MINT-4302356 MINT-4302410 MINT-4302332 MINT-7041321 MINT-4302284 MINT-4302391 I2D: score=10 STRING: ENSP00000046794
    ERBB2P046262, 3, ENSP000002695714MINT-74540 I2D: score=2 STRING: ENSP00000269571
    ASAP1Q9ULH12, 3, ENSP000003502974MINT-7145768 I2D: score=1 STRING: ENSP00000350297
    PTPN23Q9H3S71, 2, 3, ENSP000002655624EBI-740418,EBI-724478 MINT-7220138 MINT-7220391 MINT-7220432 I2D: score=1 STRING: ENSP00000265562
    CD28P107472, 3, ENSP000003248904MINT-8036810 MINT-8036795 I2D: score=4 STRING: ENSP00000324890
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007265Ras protein signal transduction TAS9878555
    GO:0007267cell-cell signaling TAS9878555
    GO:0009967positive regulation of signal transduction TAS9878555
    GO:0031295T cell costimulation TAS--
    GO:0038095Fc-epsilon receptor signaling pathway TAS--

    GRAP2 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 GRAP2

    4 Novoseek inferred chemical compound relationships for GRAP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 61 23 15029250 (2), 12186560 (2), 16493040 (2), 15735648 (2) (see all 13)
    phosphotyrosine 52.3 1 12356870 (1)
    lipid 0 1 12356870 (1)
    calcium 0 1 12356870 (1)



    GRAP2 for compounds           About GeneDecksing



    (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 GRAP2 gene: 
    NM_004810.2  

    Unigene Cluster for GRAP2:

    GRB2-related adaptor protein 2
    Hs.517499  [show with all ESTs]
    Unigene Representative Sequence: BC026002
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344138(uc003ayh.2 uc011aom.2 uc011aon.2 uc003ayj.2)
    ENST00000420971 ENST00000478445 ENST00000461082 ENST00000407075 ENST00000481263
    ENST00000460449 ENST00000540310 ENST00000543252 ENST00000399090 ENST00000544756(uc010gya.2 uc011aoo.2 uc011aop.2 uc011aoq.2)

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate GRAP2:
    hsa-miR-4286 hsa-miR-502-5p hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidGRAP2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat GRAP2

    Additional mRNA sequence: 

    AF042380.1 AF090456.1 AF102694.1 AF121002.1 AF129476.1 AF236119.1 AF236120.1 AJ011736.1 
    AK303280.1 AK303332.1 AK303470.1 AK303512.1 AK303657.1 AK312830.1 AY069959.1 BC025692.1 
    BC026002.1 CR456498.1 CR536524.1 CR541849.1 Y18051.1 

    8 DOTS entries:

    DT.433702  DT.95171199  DT.120671271  DT.407834  DT.87015062  DT.100670611  DT.120671280  DT.97777471 

    Selected AceView cDNA sequences (see all 75):

    H55177 AF042380 CR604186 CR536524 CR598431 NM_004810 CR607150 AF090456 
    AF236120 CR456498 AI248165 N57907 AA669142 BC025692 BU584259 CD619360 
    BX437693 BX387888 BU584520 BX387889 AF102694 BU584521 BU584580 AA693791 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for GRAP2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5
    SP1:                                                
    SP2:              -                                 


    ECgene alternative splicing isoforms for GRAP2

    (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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    GRAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTATATATA
    GRAP2 Expression
    About this image

    GRAP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GRAP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517499
        Custom PCR Arrays for GRAP2
    Primer
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    OriGene qPCR primer pairs and template standards for GRAP2
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    QuantiTect SYBR Green Assays in human, mouse, rat GRAP2
    QuantiFast Probe-based Assays in human, mouse, rat GRAP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRAP2

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for GRAP2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grap21 , 5 GRB2-related adaptor protein 21, 5 83.02(n)1
    86.02(a)1
      15 (37.88 cM)5
    174441  NM_010815.21  NP_034945.11 
     806234835 
    chicken
    (Gallus gallus)
    Aves GRAP21 GRB2-related adaptor protein 2 68.82(n)
    67.35(a)
      770756  XM_004937732.1  XP_004937789.1 
    lizard
    (Anolis carolinensis)
    Reptilia GRAP26
    GRB2-related adaptor protein 2
    60(a)
    1 ↔ 1
    5(25471269-25539376)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia grap21 GRB2-related adaptor protein 2 55.52(n)
    50.5(a)
      100492322  XM_002933747.2  XP_002933793.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC058307.12   -- 82.54(n)   393651  BC058307.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta drk6
    downstream of receptor kinase
    48(a)
    1 → many
    2R(9382727-9390342)
    worm
    (Caenorhabditis elegans)
    Secernentea sem-56
    Protein SEM-5 (sem-5) mRNA, complete cds
    44(a)
    1 → many
    X(7959827-7961725) WBGene00004774


    ENSEMBL Gene Tree for GRAP2 (if available)
    TreeFam Gene Tree for GRAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GRAP2 gene
    GRAP2  GRAPL2  NCK12  NCK22  GRB22  
    Selected SIMAP similar genes for GRAP2 using alignment to 8 protein entries:     GRAP2_HUMAN (see all proteins) (see all similar genes):
    ITSN2    GRAP    PSTPIP1    ITSN1    GRAPL    AHI1
    EPS8    VAV1    HCK    KIAA0142    PPP1R13B    SH3D19
    ARHGEF7    SH3GL2    BLK    CRK    SH3GL1    ABL1

    GRAP2 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 GRAP2 (see all 1271)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs675645651,2
    C--24234922(+) CACAG-/ACACA 
     CACACAC
    ACACA
    1 -- int10--------
    rs1912786441,2
    --40295167(+) TCAATC/TAGTAC 1 -- us2k10--------
    rs1157324561,2
    F--40295246(+) GGATTA/GTATTC 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs60017031,2
    C,H--40295286(+) AATTAG/ACTTCC 1 -- us2k15Minor allele frequency- A:0.00NS EA NA 422
    rs1837938731,2
    --40295370(+) CTCCCC/TAACCA 1 -- us2k10--------
    rs738856081,2
    C,F--40295452(+) GCCAGA/CGGATT 1 -- us2k12Minor allele frequency- C:0.07WA 120
    rs354579551,2
    C--40295575(+) CAAGA-/TGTTGTTA 1 -- us2k10--------
    rs1379581,2
    C--40295576(+) ATGTT-/GTTATTTT 1 -- us2k10--------
    rs2004514061,2
    C--40295579(+) ATGTTA/GTTATT 1 -- us2k10--------
    rs1893170951,2
    --40295642(+) ACCAGA/GATTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GRAP2 (40297086 - 40369725 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GRAP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv510808CNV Loss20534489
    nsv834201CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GRAP2
    DNA2.0 Custom Variant and Variant Library Synthesis for GRAP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604518    OMIM disorders: --

    12 diseases for GRAP2:    
    About MalaCards
    potter's syndrome    retinal telangiectasia    silver-russell syndrome    fanconi's anemia
    retinitis    hepatitis c    hepatitis    hepatitis b
    hepatocellular carcinoma    thyroiditis    pancreatitis    leukemia

    2 diseases from the University of Copenhagen DISEASES database for GRAP2:
    Potter's syndrome     Silver-Russell syndrome

    GRAP2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for GRAP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 0 2 9831174 (1)
    tumors 0 4 19027225 (1), 9831174 (1)

    Genetic Association Database (GAD): GRAP2
    Human Genome Epidemiology (HuGE) Navigator: GRAP2 (4 documents)

    Export disorders for GRAP2 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 GRAP2 gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with GRAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of human grap-2, a novel leukocyte- specific SH2- and SH3-containing adaptor-like protein that binds to gab-1. (PubMed id 9878555)1, 2, 3, 9 Qiu M....Liu M. (Biochem. Biophys. Res. Commun. 1998)
    2. Grf40, A novel Grb2 family member, is involved in T cell signaling through interaction with SLP-76 and LAT. (PubMed id 10224278)1, 2, 3 Asada H.... Sugamura K. (J. Exp. Med. 1999)
    3. Association of Grb2, Gads, and phospholipase C-gamma 1 with phosphorylated LAT tyrosine residues. Effect of LAT tyrosine mutations on T cell antigen receptor-mediated signaling. (PubMed id 10811803)1, 2, 9 Zhang W.... Samelson L.E. (J. Biol. Chem. 2000)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Histidine domain-protein tyrosine phosphatase interacts with Grb2 and GrpL. (PubMed id 21179510)1, 2 Tanase C.A. (PLoS ONE 2010)
    6. Secreted protein acidic and rich in cysteine (SPARC) gene polymorphism association with hepatocellular carcinoma in Italian patients. (PubMed id 19817957)1, 4 Segat L....Crovella S. (J. Gastroenterol. Hepatol. 2009)
    7. Genetic variations in humans associated with differences in the course of hepatitis C. (PubMed id 15063762)1, 4 Saito T....Kawata S. (Biochem. Biophys. Res. Commun. 2004)
    8. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    9. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 9402 HGNC: 4563 AceView: GRAP2 Ensembl:ENSG00000100351 euGenes: HUgn9402
    ECgene: GRAP2 Kegg: 9402 H-InvDB: GRAP2

    (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 GRAP2 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 GRAP2 gene:
    Search GeneIP for patents involving GRAP2

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



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