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RAPGEF3 Gene

protein-coding   GIFtS: 66
GCID: GC12M048128

Rap Guanine Nucleotide Exchange Factor (GEF) 3

(Previous name: RAP guanine-nucleotide-exchange factor (GEF) 3)
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(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
Rap Guanine Nucleotide Exchange Factor (GEF) 31 2     RAP Guanine-Nucleotide-Exchange Factor (GEF) 31
Exchange Protein Directly Activated By CAMP 11 2 3     9330170P05Rik2
EPAC2 3 5     CAMP-GEFI2
Exchange Factor Directly Activated By CAMP 12 3     HSU792752
EPAC12 3     bcm9102
CAMP-Regulated Guanine Nucleotide Exchange Factor I2 3     Rap Guanine Nucleotide Exchange Factor 32
EPAC 12 3     CGEF13
Rap1 Guanine-Nucleotide-Exchange Factor Directly Activated By CAMP2 3     cAMP-GEFI3

External Ids:    HGNC: 166291   Entrez Gene: 104112   Ensembl: ENSG000000793377   OMIM: 6060575   UniProtKB: O953983   

Export aliases for RAPGEF3 gene to outside databases

Previous GC identifers: GC12M046418 GC12M046419 GC12M045159


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RAPGEF3 Gene:
RAPGEF3 (Rap guanine nucleotide exchange factor (GEF) 3) is a protein-coding gene. GO annotations related to this gene include cAMP binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is RAPGEFL1.

UniProtKB/Swiss-Prot: RPGF3_HUMAN, O95398
Function: Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding
cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it
activates the PI3K gamma complex and which is involved in angiogenesis. Plays a role in the modulation of the
cAMP-induced dynamic control of endothelial barrier function through a pathway that is independent on
Rho-mediated signaling. Required for the actin rearrangement at cell-cell junctions, such as stress fibers and
junctional actin

summary for RAPGEF3 Gene:
GTPases are a group of enzymes that catalyze hydrolysis of the gamma phosphate bond in guanine triphosphate
(GTP) to form guanine diphosphate (GDP). Mg2+ is essential for catalytic activity. GTPases are often coupled
to G proteins and have essential roles in signal transduction, protein synthesis and translocation, control
of cell growth and differentiation and vesicular transport regulation.

Gene Wiki entry for RAPGEF3 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 at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAPGEF3 gene promoter:
         Sp1   YY1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAPGEF3 promoter sequence
   Search Chromatin IP Primers for RAPGEF3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAPGEF3


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

Entrez Gene cytogenetic band: 12q13.1   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q13.1

RAPGEF3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAPGEF3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M048128:  view genomic region     (about GC identifiers)

Start:
48,128,453 bp from pter      End:
48,164,823 bp from pter
Size:
36,371 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RPGF3_HUMAN, O95398 (See protein sequence)
Recommended Name: Rap guanine nucleotide exchange factor 3  
Size: 923 amino acids; 103751 Da
Subunit: Interacts with PDE3B
Caution: It is uncertain whether Met-1 or Met-43 is the initiator
Sequence caution: Sequence=AAD02890.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAD12740.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K2G5 E7EQC8 O95634 Q8WVN0
Alternative splicing: 3 isoforms:  O95398-1   O95398-2   O95398-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for RAPGEF3: NX_O95398

Explore proteomics data for RAPGEF3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RAPGEF3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001092001.1  NP_001092002.1  NP_006096.2  

    ENSEMBL proteins: 
     ENSP00000395708   ENSP00000449905   ENSP00000448619   ENSP00000373864   ENSP00000448480  
     ENSP00000447691   ENSP00000378764   ENSP00000449818   ENSP00000446731   ENSP00000448804  
     ENSP00000384521   ENSP00000171000  
    Reactome Protein details: O95398

    RAPGEF3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RAPGEF3

     
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    antibodies-online proteins for RAPGEF3 (3 products) 

     
    antibodies-online peptides for RAPGEF3

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    antibodies-online antibodies for RAPGEF3 (49 products) 

    RAPGEF3 Assay Products:

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    antibodies-online kits for RAPGEF3 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Epac1
    Exchange protein activated by cyclic AMP (Epac)

    Selected InterPro protein domains (see all 11):
     IPR008937 Ras_GEF
     IPR018490 cNMP-bd-like
     IPR023578 Ras_GEF_dom
     IPR001895 RasGRF_CDC25
     IPR000595 cNMP-bd_dom

    Graphical View of Domain Structure for InterPro Entry O95398

    ProtoNet protein and cluster: O95398

    4 Blocks protein domains:
    IPB000591 Pleckstrin putative G-protein interacting domain
    IPB000595 Cyclic nucleotide-binding domain
    IPB001895 Guanine-nucleotide dissociation stimulator CDC25
    IPB002373 cAMP-dependent protein kinase signature


    UniProtKB/Swiss-Prot: RPGF3_HUMAN, O95398
    Domain: The DEP domain is involved in membrane localization independent from regulation by cAMP
    Similarity: Contains 1 cyclic nucleotide-binding domain
    Similarity: Contains 1 DEP domain
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 Ras-GEF domain


    Find genes that share domains with RAPGEF3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPGF3_HUMAN, O95398
    Function: Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding
    cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it
    activates the PI3K gamma complex and which is involved in angiogenesis. Plays a role in the modulation of the
    cAMP-induced dynamic control of endothelial barrier function through a pathway that is independent on
    Rho-mediated signaling. Required for the actin rearrangement at cell-cell junctions, such as stress fibers and
    junctional actin

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity TAS9853756
    GO:0005515protein binding IPI--
    GO:0008603cAMP-dependent protein kinase regulator activity IEA--
    GO:0017034Rap guanyl-nucleotide exchange factor activity IMP--
    GO:0030552cAMP binding IEA--
         
    Find genes that share ontologies with RAPGEF3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RAPGEF3:
     Increased telomerase activity 

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rapgef3):
     cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  immune system 
     nervous system  no phenotypic analysis 

    Find genes that share phenotypes with RAPGEF3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RAPGEF3: Rapgef3tm1Skc Rapgef3tm1Utak

       genOway: Develop your customized and physiologically relevant rodent model for RAPGEF3

    miRNA
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    miRTarBase miRNAs that target RAPGEF3:
    hsa-mir-124-3p (MIRT023183), hsa-mir-335-5p (MIRT019181)

    Block miRNA regulation of human, mouse, rat RAPGEF3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAPGEF3 (see all 14):
    hsa-miR-345 hsa-miR-1178 hsa-miR-1266 hsa-miR-3194-5p hsa-miR-550a hsa-miR-539 hsa-miR-4268 hsa-miR-513a-5p
    SwitchGear 3'UTR luciferase reporter plasmidRAPGEF3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat RAPGEF3

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    GenScript: all cDNA clones in your preferred vector (see all 3): RAPGEF3 (NM_001098531)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPGEF3


    (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
    RPGF3_HUMAN, O95398: Endomembrane system
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005886plasma membrane TAS--
    GO:0005952cAMP-dependent protein kinase complex IEA--
    GO:0012505endomembrane system IEA--
    GO:0016020membrane TAS10777494

    Find genes that share ontologies with RAPGEF3           About GenesLikeMe


    (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 RAPGEF3 About   (see all 20)  
    See pathways by source

    SuperPathContained pathways About
    1Integration of energy metabolism
    Integration of energy metabolism0.75
    Regulation of Insulin Secretion by Glucagon-like Peptide-10.56
    Regulation of Insulin Secretion0.75
    2Integrin alphaIIb beta3 signaling
    Integrin alphaIIb beta3 signaling0.73
    Platelet Aggregation (Plug Formation)0.73
    3G 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
    4Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    5Development A2A receptor signaling
    Development A2B receptor action via G protein alpha s0.43
    Development A2A receptor signaling0.43


    Find genes that share SuperPaths with RAPGEF3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RAPGEF3 (see all 7)
        ERK Signaling
    Molecular Mechanisms of Cancer
    cAMP Pathway
    GPCR Pathway
    Phospholipase-C Pathway

    2 Cell Signaling Technology (CST) Pathways for RAPGEF3
        Ca, cAMP and Lipid Signaling
    Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for RAPGEF3 (see all 7)
        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
    Signal transduction cAMP signaling

    1 BioSystems Pathway for RAPGEF3
        Integrated Pancreatic Cancer Pathway

    4 Reactome Pathways for RAPGEF3
        Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
    Integrin alphaIIb beta3 signaling
    Regulation of insulin secretion
    Rap1 signalling


    5 Kegg Pathways  (Kegg details for RAPGEF3):
        Rap1 signaling pathway
    Adrenergic signaling in cardiomyocytes
    Leukocyte transendothelial migration
    Long-term potentiation
    Serotonergic synapse

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAPGEF3
    Interactions:

        GeneGlobe Interaction Network for RAPGEF3

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

    Selected Interacting proteins for RAPGEF3 (O953981, 2, 3 ENSP000003957084) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAP1BP612242, 3, ENSP000002505594MINT-6741806 I2D: score=1 STRING: ENSP00000250559
    RAP1AP628343, ENSP000003487864I2D: score=1 STRING: ENSP00000348786
    PDE3BQ133701, ENSP000002820964EBI-6172806,EBI-6172856 STRING: ENSP00000282096
    GNAI1ENSP000003430274STRING: ENSP00000343027
    GNAI2ENSP000003129994STRING: ENSP00000312999
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    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0007165signal transduction TAS9853756
    GO:0007264small GTPase mediated signal transduction ----
    GO:0007596blood coagulation TAS--

    Find genes that share ontologies with RAPGEF3           About GenesLikeMe



    (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
       Enzo Life Sciences drugs & compounds for RAPGEF3
      Browse compounds at ApexBio 

    Compounds for RAPGEF3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    HJC 0350Selective Epac2 inhibitor[885434-70-8]
    Dynamin inhibitory peptide, myristoylated (control) Control peptide version of dynamin inhibitory peptide, myristoylated (Cat. No. 1775) --
    8CPT-2Me-cAMP, sodium salt Selective Epac activator[510774-50-2]
    DynasoreNon-competitive dynamin inhibitor[304448-55-3]
    ML 141Selective inhibitor of Cdc42 Rho family GTPase[71203-35-5]

    4 HMDB Compounds for RAPGEF3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Selected Novoseek inferred chemical compound relationships for RAPGEF3 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclic amp 70 78 15591041 (5), 15525573 (4), 18391018 (3), 19307703 (3) (see all 23)
    forskolin 69.3 9 17565009 (2), 15525573 (2), 16172130 (2), 12960055 (1) (see all 7)
    ryanodine 41.3 1 18957419 (1)
    guanine 38.3 3 17993260 (1), 16269655 (1), 12819211 (1)
    calcium 37 25 18957419 (3), 16837018 (2), 11292831 (1), 17957381 (1) (see all 11)
    adenylate 35.1 1 17284589 (1)
    gdp 33.8 5 19546222 (2), 14615375 (1), 16728394 (1)
    gtp 31.9 13 18495429 (2), 12783872 (1), 19546222 (1), 17178726 (1)
    pge1 26.8 3 15967167 (2)
    phosphatidylinositol 21.7 2 11801596 (1), 12960055 (1)



    Find genes that share compounds with RAPGEF3           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RAPGEF3 gene (3 alternative transcripts): 
    NM_001098531.2  NM_001098532.2  NM_006105.5  

    Unigene Cluster for RAPGEF3:

    Rap guanine nucleotide exchange factor (GEF) 3
    Hs.8578  [show with all ESTs]
    Unigene Representative Sequence: NM_001098531
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000449771 ENST00000547856 ENST00000549151 ENST00000395360 ENST00000482843
    ENST00000479866 ENST00000488250 ENST00000389212 ENST00000548919 ENST00000490387
    ENST00000548434 ENST00000473777 ENST00000476259 ENST00000395358(uc001rqa.3)
    ENST00000494764 ENST00000495465 ENST00000466322 ENST00000495953
    miRNA
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    hsa-miR-345 hsa-miR-1178 hsa-miR-1266 hsa-miR-3194-5p hsa-miR-550a hsa-miR-539 hsa-miR-4268 hsa-miR-513a-5p
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAPGEF3
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat RAPGEF3
      QuantiFast Probe-based Assays in human, mouse, rat RAPGEF3

    Additional mRNA sequence: 

    AF103905.1 AK092448.1 AK125545.1 AK290230.1 AK299029.1 AK308079.1 BC017728.1 BC092404.1 
    U78168.1 U78169.1 U79275.1 

    12 DOTS entries:

    DT.101963950  DT.92016399  DT.410511  DT.121171772  DT.100744578  DT.111018  DT.101942  DT.95166221 
    DT.102843210  DT.435797  DT.121171795  DT.95166219 

    Selected AceView cDNA sequences (see all 91):

    BQ007070 NM_006105 BP349451 AK055502 AW003615 BU151157 BX115615 CD515786 
    BU728130 BE394226 BI000902 BX509905 AW801798 BQ775848 AL598685 BQ711010 
    CA427944 R49966 BG822090 T47189 CB994483 AI829436 BE562569 BC068477 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEF3 (see all 11)    About this scheme

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

    ExUns: 20a · 20b · 20c ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b · 29c · 29d
    SP1:  -     -                                                                                       
    SP2:  -     -                 -                                                                     
    SP3:  -     -                                                                                       
    SP4:  -     -                                                                                       
    SP5:                                                                                                


    ECgene alternative splicing isoforms for RAPGEF3

    (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)
    About This Section

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    RAPGEF3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAGGGGCT
    RAPGEF3 Expression
    About this image


    RAPGEF3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Thyroid (Endocrine System)
     
     Adipose (Muscoskeletal System)
    RAPGEF3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAPGEF3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.8578

    UniProtKB/Swiss-Prot: RPGF3_HUMAN, O95398
    Tissue specificity: Widely expressed with highest levels in adult kidney, heart, thyroid and brain, and fetal
    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 RAPGEF3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rapgef31 , 5 Rap guanine nucleotide exchange factor (GEF) 31, 5 87.97(n)1
    91.01(a)1
      15 (53.74 cM)5
    2238641  NM_001177810.11  NP_001171281.11 
     977447705 
    chicken
    (Gallus gallus)
    Aves RAPGEF31 Rap guanine nucleotide exchange factor (GEF) 3 70.73(n)
    69.2(a)
      426888  XM_424494.4  XP_424494.4 
    lizard
    (Anolis carolinensis)
    Reptilia RAPGEF36
    Rap guanine nucleotide exchange factor (GEF) 3
    65(a)
    1 ↔ 1
    GL343252.1(1274524-1352659)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rapgef31 Rap guanine nucleotide exchange factor (GEF) 3 63.69(n)
    60.76(a)
      100491495  XM_002935656.2  XP_002935702.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018860941 rap guanine nucleotide exchange factor 3-like 60.82(n)
    57.41(a)
      101886094  XM_005162353.1  XP_005162410.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Epac6
    Epac
    35(a)
    1 → many
    2R(2647220-2686446)
    worm
    (Caenorhabditis elegans)
    Secernentea epac-16
    Protein EPAC-1 (epac-1) mRNA, complete cds
    28(a)
    1 → many
    III(10189218-10195399) WBGene00004255


    ENSEMBL Gene Tree for RAPGEF3 (if available)
    TreeFam Gene Tree for RAPGEF3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAPGEF3 gene
    RAPGEFL12  RAPGEF22  RAPGEF62  RASGEF1A2  RASGEF1C2  RAPGEF42  ENSG000002732172  RASGEF1B2  
    RAPGEF52  
    11 SIMAP similar genes for RAPGEF3 using alignment to 8 protein entries:     RPGF3_HUMAN (see all proteins):
    DKFZp781H1715    RAPGEF4    Nbla00496    RAPGEFL1    CGEF2    RAPGEF5
    DKFZp586O1422    KIA001LB    PDZGEF1    RAPGEF2    RAPGEF6

    Find genes that share paralogs with RAPGEF3           About GenesLikeMe



    (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 RAPGEF3 (see all 776)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1443732541,2
    --48127953(+) GGTGCA/GCACCA 3 -- int10--------
    rs1883418011,2
    --48127963(+) ACCATA/TCCCGG 3 -- int10--------
    rs1487737031,2
    --48127964(+) CCATAC/TCCGGG 3 -- int10--------
    rs1414977541,2
    --48127965(+) CATACC/TCGGGT 3 -- int10--------
    rs7572841,2
    C,F,A,H--48128119(-) ACGTAC/GTTACT 3 -- int137Minor allele frequency- N:0.00MN NS EA NA WA CSA 3668
    rs1932016701,2
    --48128123(+) AGTACA/GTGAAA 3 -- int10--------
    rs111682131,2
    C,F,H--48128186(+) CTAATC/ACTGCA 3 -- int116Minor allele frequency- A:0.04NS EA NA WA 1640
    rs108756831,2
    C,F,A,H--48128283(+) CTTCAC/GCTGTC 3 -- int127Minor allele frequency- G:0.20NS EA NA WA CSA 2770
    rs1508747631,2
    --48128304(+) TTAAGC/TAGTTA 3 -- int10--------
    rs1404331701,2
    --48128323(+) TGGGCA/GAACCT 3 -- int10--------

    HapMap Linkage Disequilibrium report for RAPGEF3 (48128453 - 48164823 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RAPGEF3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv696CNV Insertion18451855
    dgv94n21CNV Loss19592680
    nsv518315CNV Loss19592680
    nsv899059CNV Loss21882294
    nsv470289CNV Gain18288195

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606057    OMIM disorders: --


    Find genes that share disorders with RAPGEF3           About GenesLikeMe

    4 Novoseek inferred disease relationships for RAPGEF3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertrophy 6.72 3 18323524 (1), 19307703 (1), 16269655 (1)
    inflammation 0 2 17068197 (1), 18176800 (1)
    tumors 0 1 18172027 (1)
    alzheimers disease 0 1 16246111 (1)

    Genetic Association Database (GAD): RAPGEF3
    Human Genome Epidemiology (HuGE) Navigator: RAPGEF3 (3 documents)

    Export disorders for RAPGEF3 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 RAPGEF3 gene, integrated from 10 sources (see all 206):
    (articles sorted by number of sources associating them with RAPGEF3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mechanism of regulation of the Epac family of cAMP-dependent RapGEFs. (PubMed id 10777494)1, 2, 3 de Rooij J....Bos J.L. (J. Biol. Chem. 2000)
    2. A family of cAMP-binding proteins that directly activate rap1. (PubMed id 9856955)1, 2, 3 Kawasaki H.... Graybiel A.M. (Science 1998)
    3. Epac is a Rap1 guanine-nucleotide-exchange factor directly activated by cyclic AMP. (PubMed id 9853756)1, 2, 9 de Rooij J.... Bos J.L. (Nature 1998)
    4. Association study of the Epac gene and tobacco smoking and nicotine dependence. (PubMed id 15274052)1, 4, 9 Chen X....Kendler K.S. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004)
    5. Epac1 and PDZ-GEF cooperate in Rap1 mediated endothelial junction control. (PubMed id 21840392)1, 2 Pannekoek W.J....Bos J.L. (Cell. Signal. 2011)
    6. A phosphodiesterase 3B-based signaling complex integrates exchange protein activated by cAMP 1 and phosphatidylinositol 3-kinase signals in human arterial endothelial cells. (PubMed id 21393242)1, 2 Wilson L.S.... Maurice D.H. (J. Biol. Chem. 2011)
    7. An association between Epac-1 gene variants and anxiety and depression in two independent samples. (PubMed id 19475578)1, 4 Middeldorp C.M....Chen X. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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)
    10. Structure and regulation of the cAMP-binding domains of Epac2. (PubMed id 12469113)1, 2 Rehmann H....Wittinghofer A. (Nat. Struct. Biol. 2003)

    (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: 10411 HGNC: 16629 AceView: RAPGEF3 Ensembl:ENSG00000079337 euGenes: HUgn10411
    ECgene: RAPGEF3 Kegg: 10411 H-InvDB: RAPGEF3

    (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 RAPGEF3 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 RAPGEF3 gene:
    Search GeneIP for patents involving RAPGEF3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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