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

RAPGEF2 Gene

protein-coding   GIFtS: 57
GCID: GC04P160025

Rap Guanine Nucleotide Exchange Factor (GEF) 2

(Previous name: PDZ domain containing guanine nucleotide exchange factor...)
(Previous symbol: PDZGEF1)
  Search for RAPGEF2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Rap Guanine Nucleotide Exchange Factor (GEF) 21 2     PDZ Domain-Containing Guanine Nucleotide Exchange Factor 12 3
PDZGEF11 2 3     Rap GEP1
PDZ Domain Containing Guanine Nucleotide Exchange Factor (GEF) 11 2     CNrasGEF2
Neural RAP Guanine Nucleotide Exchange Protein2 3     RA(Ras/Rap1A-associating)-GEF2
NRAPGEP2 3     Rap-GEP2
PDZ-GEF12 3     Rap Guanine Nucleotide Exchange Factor 22
RA-GEF2 3     KIAA03133
NRap GEP2 3     

External Ids:    HGNC: 168541   Entrez Gene: 96932   Ensembl: ENSG000001097567   OMIM: 6095305   UniProtKB: Q9Y4G83   

Export aliases for RAPGEF2 gene to outside databases

Previous GC identifers: GC04P160767 GC04P160546 GC04P160244 GC04P160409 GC04P160188 GC04P155939


(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 RAPGEF2 Gene:
Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as
GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide
exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the
active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al.,
2000 (PubMed 10934204)).(supplied by OMIM, Mar 2008)

GeneCards Summary for RAPGEF2 Gene: 
RAPGEF2 (Rap guanine nucleotide exchange factor (GEF) 2) is a protein-coding gene. Among its related super-pathways are G-protein signaling G-Protein alpha-i signaling cascades and Development A2B receptor- action via G-protein alpha s. GO annotations related to this gene include signal transducer activity and calcium ion binding. An important paralog of this gene is RAPGEFL1.

UniProtKB/Swiss-Prot: RPGF2_HUMAN, Q9Y4G8
Function: Guanine nucleotide exchange factor (GEF) for Rap1A, Rap1B and Rap2B GTPases. Does not interact with cAMP
or cGMP

Gene Wiki entry for RAPGEF2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAPGEF2 gene promoter:
         C/EBPbeta   HOXA3   ATF-2   Lmo2   Cdc5   RORalpha1   SRY   FOXC1   Nkx6-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RAPGEF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAPGEF2


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

Entrez Gene cytogenetic band: 4q32.1   Ensembl cytogenetic band:  4q32.1   HGNC cytogenetic band: 4q32.1

RAPGEF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAPGEF2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P160025:  view genomic region     (about GC identifiers)

Start:
160,025,330 bp from pter      End:
160,281,321 bp from pter
Size:
255,992 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RPGF2_HUMAN, Q9Y4G8 (See protein sequence)
Recommended Name: Rap guanine nucleotide exchange factor 2  
Size: 1499 amino acids; 167417 Da
Subunit: Interacts with MAGI2
Subcellular location: Cell membrane (By similarity). Note=Associated with the synaptic plasma membrane (By
similarity)
Sequence caution: Sequence=BAA20772.2; Type=Erroneous initiation;
Secondary accessions: D3DP27

Explore the universe of human proteins at neXtProt for RAPGEF2: NX_Q9Y4G8

Explore proteomics data for RAPGEF2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation by PLK2 promotes its activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y4G8

  • RAPGEF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAPGEF2 Protein Expression
    REFSEQ proteins: NP_055062.1  
    ENSEMBL proteins: 
     ENSP00000422707   ENSP00000421602   ENSP00000421740   ENSP00000264431   ENSP00000422361  
     ENSP00000421624   ENSP00000422098   ENSP00000421083   ENSP00000427334  

    Human Recombinant Protein Products for RAPGEF2: 
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    Cloud-Clone Corp. Proteins for RAPGEF2 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA11359771
    GO:0005770late endosome IDA17724123
    GO:0005886plasma membrane ISS--
    GO:0005887integral to plasma membrane NAS10934204

    RAPGEF2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     IPR008937 Ras_GEF
     IPR018490 cNMP-bd-like
     IPR023578 Ras_GEF_dom
     IPR001895 RasGRF_CDC25
     IPR000159 Ras-assoc

    Graphical View of Domain Structure for InterPro Entry Q9Y4G8

    ProtoNet protein and cluster: Q9Y4G8

    4 Blocks protein domains:
    IPB000159 RA domain
    IPB000595 Cyclic nucleotide-binding domain
    IPB001478 PDZ/DHR/GLGF domain
    IPB001895 Guanine-nucleotide dissociation stimulator CDC25


    UniProtKB/Swiss-Prot: RPGF2_HUMAN, Q9Y4G8
    Similarity: Contains 1 cyclic nucleotide-binding domain
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 Ras-associating domain
    Similarity: Contains 1 Ras-GEF domain


    RAPGEF2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPGF2_HUMAN, Q9Y4G8
    Function: Guanine nucleotide exchange factor (GEF) for Rap1A, Rap1B and Rap2B GTPases. Does not interact with cAMP
    or cGMP

         Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS10934204
    GO:0005085guanyl-nucleotide exchange factor activity ----
    GO:0005088Ras guanyl-nucleotide exchange factor activity IDA10801446
    GO:0005509calcium ion binding NAS10934204
    GO:0005515protein binding IPI10548487
         
    RAPGEF2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RAPGEF2:
     Altered focal adhesion (FA) or  Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rapgef2):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  growth/size 
     hematopoietic system  immune system  integument  liver/biliary system  mortality/aging 
     nervous system  no phenotypic analysis 

    RAPGEF2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RAPGEF2: Rapgef2tm1.1Tkat Rapgef2tm1.2Hous

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RAPGEF2 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPGEF2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RAPGEF2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1G-protein signaling G-Protein alpha-i signaling cascades
    Development Beta-adrenergic receptors regulation of ERK0.55
    G-protein signaling G-Protein alpha-s signaling cascades0.44
    2Development A2B receptor- action via G-protein alpha s
    Development A2B receptor: action via G-protein alpha s0.43
    Development A2A receptor signaling0.43
    3G-protein signaling Rap1A regulation pathway
    G-protein signaling Rap1A regulation pathway0.88
    4G-protein signaling Rap2B regulation pathway
    G-protein signaling Rap2B regulation pathway1.00
    5G-protein signaling H-RAS regulation pathway
    G-protein signaling H-RAS regulation pathway1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/7 EMD Millipore Pathways for RAPGEF2 (see all 7)
        Development Beta-adrenergic receptors regulation of ERK
    G-protein signaling Rap2B regulation pathway
    Development A2A receptor signaling
    G-protein signaling G-Protein alpha-s signaling cascades
    G-protein signaling Rap1A regulation pathway


    5/7 GeneGo (Thomson Reuters) Pathways for RAPGEF2 (see all 7)
        G-protein signaling H-RAS regulation pathway
    G-protein signaling G-Protein alpha-s signaling cascades
    Development A2A receptor signaling
    G-protein signaling Rap1A regulation pathway
    Development A2B receptor- action via G-protein alpha s


    1         Kegg Pathway  (Kegg details for RAPGEF2):
        MAPK signaling pathway


    RAPGEF2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAPGEF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/73 Interacting proteins for RAPGEF2 (Q9Y4G82, 3 ENSP000002644314) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000237724P081073, ENSP000004063594I2D: score=3 STRING: ENSP00000406359
    HSPA1AP081073, ENSP000003648024I2D: score=3 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=3 
    ENSG00000215328P081073I2D: score=3 
    ENSG00000224501P081073I2D: score=3 
    About this table

    Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade NAS10934204
    GO:0001568blood vessel development ISS--
    GO:0001764neuron migration ISS--
    GO:0007165signal transduction ----
    GO:0007186G-protein coupled receptor signaling pathway IDA--

    RAPGEF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RAPGEF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RAPGEF2 (RPGF2)

    10/847 HMDB Compounds for RAPGEF2 (see all 847)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    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)----

    2 Novoseek inferred chemical compound relationships for RAPGEF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 62.7 1 11168587 (1)
    gtp 51.7 1 11168587 (1)

    Search CenterWatch for drugs/clinical trials and news about RAPGEF2 / RPGF2

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAPGEF2 gene: 
    NM_014247.2  

    Unigene Cluster for RAPGEF2:

    Rap guanine nucleotide exchange factor (GEF) 2
    Hs.744884  [show with all ESTs]
    Unigene Representative Sequence: NM_014247
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000505478 ENST00000504604 ENST00000503328 ENST00000511336 ENST00000510510
    ENST00000264431(uc003iqg.4) ENST00000514565 ENST00000513816 ENST00000512056
    ENST00000502485 ENST00000510253 ENST00000505026 ENST00000509891
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    Additional mRNA sequence: 

    AB002311.1 AF070570.1 AK294459.1 BC110355.1 BC117321.1 BX640769.1 

    11 DOTS entries:

    DT.318505  DT.100782568  DT.92037359  DT.110285  DT.91912041  DT.75189664  DT.100680526  DT.100782566 
    DT.95373730  DT.100782572  DT.91741520 

    24/191 AceView cDNA sequences (see all 191):

    BE644674 AA670120 BF594711 AA628277 CA314833 AA845840 CA867476 BM700143 
    BX642629 CB530005 AI092560 BM423354 AI861871 CR621095 BE018645 CD743235 
    AL596512 BF435817 AI961959 AB002311 AL117397 AA766231 BG403618 BE302220 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEF2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22a ·
    SP1:                                                                                                                                            -     -     -   
    SP2:                                                                                                                                                  -     -   
    SP3:                                                                                                        -                                                   
    SP4:                                                                                                                                                        -   
    SP5:                                                                                                                                                            

    ExUns: 22b · 22c ^ 23a · 23b ^ 24 ^ 25
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for RAPGEF2

    (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

    RAPGEF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCATATAGA
    RAPGEF2 Expression
    About this image


    See RAPGEF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAPGEF2

    SOURCE GeneReport for Unigene cluster: Hs.744884

    UniProtKB/Swiss-Prot: RPGF2_HUMAN, Q9Y4G8
    Tissue specificity: Highest expression levels in brain. Lower expression levels in heart, kidney, lung, and
    placenta

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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 RAPGEF2 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rapgef21 , 5 Rap guanine nucleotide exchange factor (GEF) 21, 5 86.1(n)1
    95.12(a)1
      3 (34.91 cM)5
    760891  NM_001099624.21  NP_001093094.21 
     790625165 
    chicken
    (Gallus gallus)
    Aves RAPGEF21 Rap guanine nucleotide exchange factor (GEF) 2 83.37(n)
    94.09(a)
      422418  XM_420387.3  XP_420387.3 
    lizard
    (Anolis carolinensis)
    Reptilia RAPGEF26
    Rap guanine nucleotide exchange factor (GEF) 2
    86(a)
    1 ↔ 1
    5(128003121-128117247)
    zebrafish
    (Danio rerio)
    Actinopterygii CA469886.12   -- 75.82(n)   335019  CA469886.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gef261 CG9491-PA 52.18(n)
    50.72(a)
      33881  NM_001144325.1  NP_001137797.1 
    worm
    (Caenorhabditis elegans)
    Secernentea pxf-11 Protein PXF-1 49.88(n)
    40.87(a)
      177894  NM_001028218.3  NP_001023389.1 


    ENSEMBL Gene Tree for RAPGEF2 (if available)
    TreeFam Gene Tree for RAPGEF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAPGEF2 gene
    RAPGEFL12  RASGRP42  RAPGEF62  RASGRP12  RAPGEF32  RASGEF1A2  RAPGEF42  RASGEF1C2  
    RAPGEF52  RASGEF1B2  RASGRP22  RASGRP32  
    7 SIMAP similar genes for RAPGEF2 using alignment to 10 protein entries:     RPGF2_HUMAN (see all proteins):
    DKFZp586O1422    PDZGEF1    KIA001LB    RAPGEF6    FNIP1    PDZD11
    RAPGEF3

    RAPGEF2 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) 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

    10/1969 SNPs in RAPGEF2 are shown (see all 1969)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1854977771,2
    --160187088(+) ATAACA/GGGATC 1 -- us2k10--------
    rs1157557631,2
    C,F--160187097(+) TCACTA/GTGGTT 1 -- us2k11Minor allele frequency- G:0.03NA 120
    rs46915521,2
    C,F,A,H--160187118(+) GTATTC/GCATGG 1 -- us2k115Minor allele frequency- G:0.28NA NS EA WA CSA 925
    rs1172469781,2
    C,F--160187253(+) GCACAT/CTTAAA 1 -- us2k11Minor allele frequency- C:0.06EA 120
    rs1130869721,2
    F--160187373(+) AAAGAG/ATGATG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1868003631,2
    C--160187426(+) AGAGAA/GTAGGG 1 -- us2k10--------
    rs772253301,2
    F--160187483(+) CTGACA/GGTTCC 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs119308741,2
    C,F,H--160187496(+) AGTCAA/GTTATT 1 -- us2k1 tfbs312Minor allele frequency- G:0.29NS EA WA NA CSA 774
    rs1165162351,2
    C,F--160187517(+) CATTTT/CCTGTG 1 -- us2k11Minor allele frequency- C:0.07WA 118
    rs1912699541,2
    --160187546(+) TGCCAC/TTGATA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RAPGEF2 (160025330 - 160275330 bp, first 250kb of RAPGEF2)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RAPGEF2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830129CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RAPGEF2 for disorders           About MalaCards
    OMIM gene information: 609530    OMIM disorders: --


    RAPGEF2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RAPGEF2

    Export disorders for RAPGEF2 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 RAPGEF2 gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with RAPGEF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of guanine nucleotide exchange factors (GEFs) for the Rap1 GTPase. Regulation of MR-GEF by M-Ras-GTP interaction. (PubMed id 10934204)1, 2, 3, 9 Rebhun J.F.... Quilliam L.A. (2000)
    2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (1997)
    3. PDZ-GEF1, a guanine nucleotide exchange factor specific for Rap1 and Rap2. (PubMed id 10608883)1, 2 de Rooij J....Bos J.L. (1999)
    4. nRap GEP: a novel neural GDP/GTP exchange protein for rap1 small G protein that interacts with synaptic scaffolding molecule (S-SCAM). (PubMed id 10548487)1, 2 Ohtsuka T.... Takai Y. (1999)
    5. RA-GEF, a novel Rap1A guanine nucleotide exchange factor containing a Ras/Rap1A-associating domain, is conserved between nematode and humans. (PubMed id 10608844)1, 9 Liao Y....Kataoka T. (1999)
    6. A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)
    7. DNA methylation shows genome-wide association of NFIX, RAPGEF2 and MSRB3 with gestational age at birth. (PubMed id 22422452)1 Lee H....Fallin M.D. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Epac1 and PDZ-GEF cooperate in Rap1 mediated endothel ial junction control. (PubMed id 21840392)1 Pannekoek W.J....Bos J.L. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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
    Entrez Gene: 9693 HGNC: 16854 AceView: RAPGEF2 Ensembl:ENSG00000109756 euGenes: HUgn9693
    ECgene: RAPGEF2 Kegg: 9693 H-InvDB: RAPGEF2

    (According to HUGE)
    About This Section
    HUGE: KIAA0313

    (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 RAPGEF2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAPGEF2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAPGEF2 gene:
    Search GeneIP for patents involving RAPGEF2

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



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