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RASGRP2 Gene

protein-coding   GIFtS: 65
GCID: GC11M064494

RAS Guanyl Releasing Protein 2 (Calcium And DAG-Regulated)

  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
RAS Guanyl Releasing Protein 2 (Calcium And DAG-Regulated)1 2     Calcium And Diacylglycerol-Regulated Guanine Nucleotide Exchange Factor I2
CDC25L2 3 5     Guanine Exchange Factor MCG72
Calcium And DAG-Regulated Guanine Nucleotide Exchange Factor I2 3     RAS Guanyl Nucleotide-Releasing Protein 22
Cdc25-Like Protein2 3     RAS Guanyl-Releasing Protein 22
F25B3.3 Kinase-Like Protein2 3     CalDAG-GEFI3
hCDC25L2 3     MCG73
CALDAG-GEFI2     

External Ids:    HGNC: 98791   Entrez Gene: 102352   Ensembl: ENSG000000688317   OMIM: 6055775   UniProtKB: Q7LDG73   

Export aliases for RASGRP2 gene to outside databases

Previous GC identifers: GC11M067010 GC11M066175 GC11M064744 GC11M064270 GC11M064271 GC11M064250 GC11M060821


(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 RASGRP2 Gene:
The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF
domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding
domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of
this protein can be stimulated by calcium and diacylglycerol. Three alternatively spliced transcript variants
encoding the same protein have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for RASGRP2 Gene:
RASGRP2 (RAS guanyl releasing protein 2 (calcium and DAG-regulated)) is a protein-coding gene. Diseases associated with RASGRP2 include leukocyte adhesion deficiency, type iii, and leukocyte adhesion deficiency. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and calcium ion binding. An important paralog of this gene is UNC13C.

UniProtKB/Swiss-Prot: GRP2_HUMAN, Q7LDG7
Function: Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through
the exchange of bound GDP for GTP. May also activates other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS.
Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out
integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway

Gene Wiki entry for RASGRP2 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_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RASGRP2 gene promoter:
         CREB   GATA-2   YY1   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRASGRP2 promoter sequence
   Search Chromatin IP Primers for RASGRP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RASGRP2


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

RASGRP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RASGRP2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M064494:  view genomic region     (about GC identifiers)

Start:
64,494,383 bp from pter      End:
64,512,928 bp from pter
Size:
18,546 bases      Orientation:
minus 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: GRP2_HUMAN, Q7LDG7 (See protein sequence)
Recommended Name: RAS guanyl-releasing protein 2  
Size: 609 amino acids; 69248 Da
Subunit: Forms a signaling complex with RAP1 and BRAF (By similarity). Interacts with RAP1. Interacts with F-actin
Developmental stage: Expressed in fetal brain, lung, liver and kidney
Caution: Defects in RASGRP2 were initially thought (PubMed:17576779) to be the cause of leukocyte adhesion
deficiency type 3 (LAD3), a syndrome characterized by recurrent bacterial infections and major bleeding
disorders. However, it was later shown (PubMed:19064721, PubMed:19234463 and PubMed:19234460) that it is not the
case and that LAD3 is caused by defects in FERMT3 gene
1 PDB 3D structure from and Proteopedia for RASGRP2:
2MA2 (3D)    
Secondary accessions: O00538 Q9UL65
Alternative splicing: 3 isoforms:  Q7LDG7-1   Q7LDG7-2   Q7LDG7-3   (The corresponding protein is not undetectable)

Explore the universe of human proteins at neXtProt for RASGRP2: NX_Q7LDG7

Explore proteomics data for RASGRP2 at MOPED

Post-translational modifications: 

  • Isoform 2 is palmitoylated and myristoylated while isoform 11
  • Ubiquitination2 at Lys9
  • Modification sites at PhosphoSitePlus

  • See RASGRP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001092140.1  NP_001092141.1  NP_722541.1  

    ENSEMBL proteins: 
     ENSP00000366714   ENSP00000401510   ENSP00000377953   ENSP00000366717   ENSP00000338864  
     ENSP00000396029   ENSP00000399114   ENSP00000399028   ENSP00000377950   ENSP00000377949  
     ENSP00000366706   ENSP00000366707   ENSP00000366709   ENSP00000377951   ENSP00000366705  
     ENSP00000401314   ENSP00000389068  
    Reactome Protein details: Q7LDG7

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    Cloud-Clone Corp. CLIAs for RASGRP2


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

    Selected InterPro protein domains (see all 8):
     IPR008937 Ras_GEF
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR023578 Ras_GEF_dom
     IPR001895 RasGRF_CDC25

    Graphical View of Domain Structure for InterPro Entry Q7LDG7

    ProtoNet protein and cluster: Q7LDG7

    1 Blocks protein domain: IPB001895 Guanine-nucleotide dissociation stimulator CDC25

    UniProtKB/Swiss-Prot: GRP2_HUMAN, Q7LDG7
    Domain: The N-terminal Ras-GEF domain mediates association with F-actin
    Similarity: Belongs to the RASGRP family
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger
    Similarity: Contains 1 Ras-GEF domain


    RASGRP2 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: GRP2_HUMAN, Q7LDG7
    Function: Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through
    the exchange of bound GDP for GTP. May also activates other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS.
    Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out
    integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway
    Enzyme regulation: Isoform 1 and isoform 2 are differently regulated by calcium and DAG

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity TAS9789079
    GO:0005509calcium ion binding TAS9789079
    GO:0008289lipid binding TAS9789079
    GO:0019992diacylglycerol binding NAS10918068
         
    RASGRP2 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rasgrp2):
     hematopoietic system  homeostasis/metabolism 

    RASGRP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rasgrp2tm1Amg for RASGRP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RASGRP2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RASGRP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RASGRP2

    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate RASGRP2:
    hsa-miR-875-3p hsa-miR-328 hsa-miR-1291 hsa-miR-519e* hsa-miR-515-5p hsa-miR-513b hsa-miR-1299 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidRASGRP2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat RASGRP2

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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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    Subcellular locations from UniProtKB/Swiss-Prot
    GRP2_HUMAN, Q7LDG7: Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Cell junction, synapse,
    synaptosome (Potential). Cell projection, ruffle membrane; Peripheral membrane protein (Potential). Note=Found
    both in the cytosol and associated with membranes. Isoform 2 mainly localizes to the cell membrane. Enriched at
    juxtamembrane areas and membrane ruffles through association with F-actin. Localizes to the cell bodies and axons
    of striatal neurons (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane5
    nucleus2
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA10918068
    GO:0030054cell junction IEA--
    GO:0032587ruffle membrane IEA--

    RASGRP2 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 RASGRP2 About   (see all 21)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    3Integrin alphaIIb beta3 signaling
    Integrin alphaIIb beta3 signaling0.73
    Platelet Aggregation (Plug Formation)0.73
    4TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells0.64
    TCR signaling in naive CD4+ T cells0.64
    5Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RASGRP2
        ITK and TCR Signaling
    Molecular Mechanisms of Cancer
    Rap1 Pathway

    5 GeneGo (Thomson Reuters) Pathways for RASGRP2
        G-protein signaling TC21 regulation pathway
    G-protein signaling Rap1A regulation pathway
    Development EDNRB signaling
    G-protein signaling K-RAS regulation pathway
    G-protein signaling N-RAS regulation pathway

    2 BioSystems Pathways for RASGRP2
        TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells

    4 Reactome Pathways for RASGRP2
        Effects of PIP2 hydrolysis
    Integrin alphaIIb beta3 signaling
    FCERI mediated NF-kB activation
    Rap1 signalling


    4 Kegg Pathways  (Kegg details for RASGRP2):
        MAPK signaling pathway
    Ras signaling pathway
    Rap1 signaling pathway
    Chemokine signaling pathway


    RASGRP2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RASGRP2
    Interactions:

        Search GeneGlobe Interaction Network for RASGRP2

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

    Selected Interacting proteins for RASGRP2 (Q7LDG72, 3 ENSP000003388644) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FAM118BQ9BPY32, 3, ENSP000003533214MINT-65756 I2D: score=3 STRING: ENSP00000353321
    PTCHD2Q9P2K92, 3MINT-65755 I2D: score=4 
    NRASP011113, ENSP000003585484I2D: score=1 STRING: ENSP00000358548
    KRASP011163, ENSP000002560784I2D: score=1 STRING: ENSP00000256078
    RAP1AP628343, ENSP000003487864I2D: score=1 STRING: ENSP00000348786
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth NAS10918068
    GO:0007165signal transduction TAS9789079
    GO:0007264small GTPase mediated signal transduction ----
    GO:0007265Ras protein signal transduction NAS10918068
    GO:0007596blood coagulation TAS--

    RASGRP2 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 RASGRP2 (GRP2)

    Selected HMDB Compounds for RASGRP2 (see all 845)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----

    1 Novoseek inferred chemical compound relationship for RASGRP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 23.2 5 10918068 (2), 11292831 (1), 18256319 (1)



    RASGRP2 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 RASGRP2 gene (4 alternative transcripts): 
    NM_001098670.1  NM_001098671.1  NM_153819.1  NM_005825.2  

    Unigene Cluster for RASGRP2:

    RAS guanyl releasing protein 2 (calcium and DAG-regulated)
    Hs.99491  [show with all ESTs]
    Unigene Representative Sequence: AK092882
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000464324(uc001oat.3) ENST00000377494(uc001oau.3) ENST00000421556
    ENST00000394432(uc009ypu.3) ENST00000377497(uc009ypv.3) ENST00000354024(uc009ypw.3)
    ENST00000488071 ENST00000494001 ENST00000497441 ENST00000465852 ENST00000445445
    ENST00000431822 ENST00000441258 ENST00000394429 ENST00000394428 ENST00000377486
    ENST00000377487 ENST00000377489
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    hsa-miR-875-3p hsa-miR-328 hsa-miR-1291 hsa-miR-519e* hsa-miR-515-5p hsa-miR-513b hsa-miR-1299 hsa-miR-3714
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    Additional mRNA sequence: 

    AF043722.1 AF043723.1 AF081194.1 AK092852.1 AK092882.1 AK122694.1 AK124023.1 AK314637.1 
    BC110306.1 BC117151.1 U78170.1 Y12336.1 

    16 DOTS entries:

    DT.111459  DT.100649846  DT.95151432  DT.95341309  DT.100775666  DT.92419011  DT.100805296  DT.99928997 
    DT.102836316  DT.100649847  DT.100865652  DT.120740712  DT.120740717  DT.86855259  DT.91687359  DT.95094000 

    Selected AceView cDNA sequences (see all 114):

    BI518478 BX282609 BI031621 BG980607 AA721671 BX418854 BG060104 BX391977 
    AA548867 AF043723 Y12336 BX436968 NM_153819 CD244914 AK092882 AW197963 
    NM_005825 CR601768 AF043722 AK122694 AI660707 BX345214 BQ002266 AV655659 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RASGRP2 (see all 23)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a ·
    SP1:              -     -     -     -     -     -     -     -     -     -     -     -           -           -                                   -     -         
    SP2:                                -     -     -     -     -     -     -     -     -           -           -                                   -     -         
    SP3:                                                                          -     -           -           -                                   -     -         
    SP4:                                                                                            -           -                                   -     -         
    SP5:                                                                                                                                                            

    ExUns: 14b · 14c ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
    SP1:                                      -     -                       -                                             
    SP2:                                      -     -                       -                                             
    SP3:                                      -     -                       -                                             
    SP4:                                      -     -                       -                                             
    SP5:                                      -     -                       -                                             


    ECgene alternative splicing isoforms for RASGRP2

    (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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    RASGRP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCTGAGGG
    RASGRP2 Expression
    About this image


    RASGRP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Heart (Cardiovascular System)
             Primitive Heart Tube Cells Primitive Heart Tube
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    RASGRP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RASGRP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99491

    UniProtKB/Swiss-Prot: GRP2_HUMAN, Q7LDG7
    Tissue specificity: Detected in platelets, neutrophils and T lymphocytes (at protein level). Expressed in brain
    where it is enriched in the striatum. Also expressed in the hematopoietic system. Detected in heart, brain, lung,
    placenta, liver, skeletal muscle and kidney

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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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    This gene was present in the common ancestor of animals.

    Orthologs for RASGRP2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rasgrp21 , 5 RAS, guanyl releasing protein 21, 5 88.87(n)1
    96.38(a)1
      19 (4.58 cM)5
    193951  NM_011242.21  NP_035372.21 
     63993405 
    lizard
    (Anolis carolinensis)
    Reptilia RASGRP26
    RAS guanyl releasing protein 2 (calcium and DAG-re...
    73(a)
    1 ↔ 1
    GL344934.1(2074-9238)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC527982 similar to RAS guanyl releasing protein 2 (calcium more 74.23(n)    BC044323.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rasgrp21 RAS guanyl releasing protein 2 (calcium and DAG-regulated) 64.35(n)
    60.85(a)
      557063  XM_680043.4  XP_685135.4 
    worm
    (Caenorhabditis elegans)
    Secernentea F25B3.33 phorbol ester and DAG binding domain 34(a)   V(9559306-9564198)   --


    ENSEMBL Gene Tree for RASGRP2 (if available)
    TreeFam Gene Tree for RASGRP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RASGRP2 gene
    UNC13C2  RASGRP42  UNC13A2  RASGRP12  UNC13B2  RASGRP32  
    3 SIMAP similar genes for RASGRP2 using alignment to 12 protein entries:     GRP2_HUMAN (see all proteins):
    RASGRP3    RASGRP1    RASGRP4

    RASGRP2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RASGRP2
    PGOHUM00000245943


    (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 RASGRP2 (see all 519)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1127430151,2
    C--60823786(+) TGTTG-/T/TT  
            
    TTTTT
    3 -- int11CSA 2
    rs1137687691,2
    C--60841885(+) GCTGTG/CTCTTA 1 -- int11Minor allele frequency- C:0.33CSA 3
    rs1816303691,2
    --60842214(+) GAGGCA/GGAGGT 1 -- int10--------
    rs1493664921,2
    --60842230(+) TGAACA/CGAGAT 1 -- int10--------
    rs715264801,2
    C--60842332(+) CACCAC/TGGCTC 1 -- int10--------
    rs1485465361,2
    --60842340(+) CTCAAA/GGCGCT 1 -- int10--------
    rs1851798561,2
    --60842342(+) CAAAGC/TGCTCC 1 -- int10--------
    rs5666531,2
    C,F,H--60842391(+) CCAGCG/ACTCCC 1 -- int15Minor allele frequency- A:0.01NS NA EA 532
    rs1412474091,2
    --60842440(+) TTGTGC/TGACTC 1 -- int10--------
    rs5505451,2
    H--60842666(+) GCCAAC/TTCTGG 1 -- int14Minor allele frequency- T:0.00NS EA 418

    HapMap Linkage Disequilibrium report for RASGRP2 (64494383 - 64512928 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for RASGRP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897701CNV Loss21882294
    dgv1172n71CNV Loss21882294
    nsv528506CNV Loss19592680
    nsv359CNV Loss18451855
    nsv897694CNV Loss21882294
    nsv832189CNV Loss17160897
    dgv153n27CNV Loss19166990
    dgv1171n71CNV Loss21882294
    nsv818842CNV Gain17921354
    nsv825946CNV Gain20364138

    Human Gene Mutation Database (HGMD): RASGRP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RASGRP2
    DNA2.0 Custom Variant and Variant Library Synthesis for RASGRP2

    (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: 605577    OMIM disorders: --

    9 diseases for RASGRP2:    
    About MalaCards
    leukocyte adhesion deficiency, type iii    leukocyte adhesion deficiency    gout    thrombocytopenia
    myeloid leukemia    endotheliitis    cerebritis    leukemia
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for RASGRP2:
    Leukocyte adhesion deficiency

    RASGRP2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RASGRP2

    Export disorders for RASGRP2 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 RASGRP2 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with RASGRP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia. (PubMed id 9789079)1, 2, 3 Kawasaki H.... Graybiel A.M. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. Characterization of RasGRP2, a plasma membrane-targeted, dual specificity Ras/Rap exchange factor. (PubMed id 10918068)1, 2, 9 Clyde-Smith J.... Hancock J.F. (J. Biol. Chem. 2000)
    3. Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. (PubMed id 21768215)1, 4 Tin A....KAPttgen A. (Hum. Mol. Genet. 2011)
    4. Rap1-mediated lymphocyte function-associated antigen-1 activation by the T cell antigen receptor is dependent on phospholipase C-gamma1. (PubMed id 14702343)1, 2 Katagiri K.... Kinashi T. (J. Biol. Chem. 2004)
    5. The germinal centre kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13. (PubMed id 9341881)1, 2 Kedra D.... Dumanski J. (Hum. Genet. 1997)
    6. A CalDAG-GEFI/Rap1/B-Raf cassette couples M(1) muscarinic acetylcholine receptors to the activation of ERK1/2. (PubMed id 11292831)1, 9 Guo F.F....Saffen D. (J. Biol. Chem. 2001)
    7. A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets. (PubMed id 17576779)2, 9 Pasvolsky R.... Alon R. (J. Exp. Med. 2007)
    8. Ras guanyl nucleotide releasing protein 2 affects cell viability and cell-matrix adhesion in ECV304 endothelial cells. (PubMed id 23563504)1 Takino J....Hori T. (amp 2013)
    9. Phosphorylation of CalDAG-GEFI by protein kinase A prevents Rap1b activation. (PubMed id 23611601)1 Subramanian H....Gambaryan S. (J. Thromb. Haemost. 2013)
    10. Rasgrp2 regulates the permissiveness of NIH3T3 cells to a herpes simplex virus 1 mutant with inactivated ICP34.5 gene. (PubMed id 23530823)1 Xiao W....Qi Y. (Acta Virol. 2013)

    (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: 10235 HGNC: 9879 AceView: RASGRP2 Ensembl:ENSG00000068831 euGenes: HUgn10235
    ECgene: RASGRP2 Kegg: 10235 H-InvDB: RASGRP2

    (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 RASGRP2 Pharmacogenomics, SNPs, Pathways
    RASGRP2basehttp://bioinf.uta.fi/RASGRP2base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RASGRP2 gene:
    Search GeneIP for patents involving RASGRP2

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



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