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

RAPGEF3 Gene

protein-coding   GIFtS: 64
GCID: GC12M048128

Rap guanine nucleotide exchange factor (GEF) 3

(Previous name: RAP guanine-nucleotide-exchange factor (GEF) 3 )
 Explore 17 diseases affiliated with
RAPGEF3 via our new
 Human Malady Compendium 
Biological research products
for RAPGEF3
    

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

Aliases
Rap Guanine Nucleotide Exchange Factor (GEF) 31 2     EPAC 12 3
EPAC1 2 3 5     Rap1 Guanine-Nucleotide-Exchange Factor Directly Activated By CAMP2 3
Bcm9101     RAP Guanine-Nucleotide-Exchange Factor (GEF) 31
CAMP-GEFI2     9330170P05Rik2
Exchange Factor Directly Activated By CAMP 12 3     CAMP-GEFI2
Exchange Protein Directly Activated By CAMP 12 3     HSU792752
EPAC12 3     Rap Guanine Nucleotide Exchange Factor 32
CAMP-Regulated Guanine Nucleotide Exchange Factor I2 3     CGEF13

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

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

summary for RAPGEF3:
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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAPGEF3 gene promoter:
         Sp1   YY1   ATF   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RPGF3_HUMAN, O95398 (See protein sequence)
Recommended Name: Rap guanine nucleotide exchange factor 3  
Size: 923 amino acids; 103751 Da
Subunit: Interacts with PDE3B
Subcellular location: Endomembrane system
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: O95634 Q8WVN0
Alternative splicing: 2 isoforms:  O95398-1   O95398-2   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95398

  • RAPGEF3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  
     ENSP00000380278   ENSP00000384521   ENSP00000171000   ENSP00000373863   ENSP00000438798  
    Reactome Protein details: O95398
    Human Recombinant Protein Products: 
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    Uscn Proteins for RAPGEF3

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005952cAMP-dependent protein kinase complex IEA--
    GO:0012505endomembrane system IEA--


    RAPGEF3 for ontologies           About GeneDecksing



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

    RAPGEF3 for domains           About GeneDecksing

    5/11 InterPro domains/families (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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

    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
    SwitchGear 3'UTR luciferase reporter plasmidRAPGEF3 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding IPI--
    GO:0008603cAMP-dependent protein kinase regulator activity IEA--
    GO:0030552cAMP binding IEA--


    RAPGEF3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RAPGEF3:
     Increased telomerase activity 

    Animal Models:
         Mouse knock-out Rapgef3tm1Utak for RAPGEF3
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rapgef3):
     cellular  nervous system  no phenotypic analysis 

    RAPGEF3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/18 super-pathways (see all 18About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_A2B receptor- action via G-protein alpha s
    Development A2B receptor: action via G-protein alpha s1.00
    Development_A2A receptor signaling0.43
    Development_A2B receptor- action via G-protein alpha s1.00
    Development A2A receptor signaling0.43
    2G-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
    Development_Beta-adrenergic receptors regulation of ERK0.55
    G-protein signaling G-Protein alpha-s signaling cascades0.44
    3Regulation of Insulin Secretion
    Regulation of Insulin Secretion1.00
    Regulation of Insulin Secretion by Glucagon-like Peptide-10.55
    Integration of energy metabolism0.74
    4Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation1.00
    Hemostasis0.43
    5Immune System
    Immune System1.00
    Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/7 EMD Millipore Pathways for RAPGEF3 (see all 7)
        Development Beta-adrenergic receptors regulation of ERK
    Development A2A receptor signaling
    G-protein signaling G-Protein alpha-s signaling cascades
    Signal transduction cAMP signaling
    Development G-Proteins mediated regulation MARK-ERK signaling


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

    5/7 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

    2 BioSystems Pathways for RAPGEF3 
        Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway

    5/13        Reactome Pathways for RAPGEF3 (see all 13)
        Hemostasis
    Integrin cell surface interactions
    Metabolism
    Regulation of Insulin Secretion
    Adaptive Immune System


    2         Kegg Pathways  (Kegg details for RAPGEF3):
        Leukocyte transendothelial migration
    Long-term potentiation


    RAPGEF3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAPGEF3

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

    5/27 Interacting proteins for RAPGEF3 (O953981, 2, 3 ENSP000003957084) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    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
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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 IEA--
    GO:0007596blood coagulation TAS--


    RAPGEF3 for ontologies           About GeneDecksing



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

    RAPGEF3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for RAPGEF3

    Compounds for RAPGEF3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    8CPT-2Me-cAMP, sodium salt Selective Epac activator[510774-50-2]

    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--
    10/15 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about RAPGEF3 / RPGF3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000449771 ENST00000547856 ENST00000549151 ENST00000395360 ENST00000482843
    ENST00000479866 ENST00000488250 ENST00000389212 ENST00000548919 ENST00000490387
    ENST00000548434 ENST00000473777 ENST00000476259 ENST00000395358(uc001rqa.3)
    ENST00000494764 ENST00000495465 ENST00000466322 ENST00000495953

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    Additional cDNA 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 

    24/91 AceView cDNA sequences (see all 91):

    AW003615 CD515786 AW801798 BX115615 BQ007070 BE394226 BI000902 BU728130 
    BU151157 BG822090 AK055502 BQ711010 BQ775848 NM_006105 CA427944 BP349451 
    BX509905 R49966 AL598685 BI770347 BE392782 BI037765 CA976002 BG005372 

    GeneLoc Exon Structure

    5/11 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™, 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

    RAPGEF3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGAGGGGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    RAPGEF3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEndocardiumEndocardial Tube CellsEndocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RAPGEF3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAPGEF3

    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RAPGEF3 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RAPGEF31 Rap guanine nucleotide exchange factor (GEF) 3 70.06(n)
    68.38(a)
      426888  XM_424494.3  XP_424494.3 
    lizard
    (Anolis carolinensis)
    Reptilia RAPGEF36
    --
    68(a)
    1 ↔ 1
    GL343252.1(1275826-1327162)
    zebrafish
    (Danio rerio)
    Actinopterygii rapgef36
    Rap guanine nucleotide exchange factor (GEF) 3
    54(a)
    1 ↔ 1
    23(33588106-33657726)
    fruit fly
    (Drosophila melanogaster)
    Insecta Epac6
    Epac
    36(a)
    1 → many
    2R(2647220-2686446)
    worm
    (Caenorhabditis elegans)
    Secernentea epac-16
    Rap guanine nucleotide exchange factor 1
    28(a)
    1 → many
    III(10189127-10195308)


    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)
    About This Section
    Paralogs for RAPGEF3 gene
    RAPGEF22  RAPGEFL12  RAPGEF62  RAPGEF42  RASGEF1C2  RASGEF1A2  RAPGEF52  RASGEF1B2  
    12 SIMAP similar genes for RAPGEF3 using alignment to 12 protein entries:     RPGF3_HUMAN (see all proteins):
    DKFZp781H1715    RAPGEF4    Nbla00496    CGEF2    RAPGEF5    RAPGEF2
    RAPGEFL1    DKFZp586O1422    KIA001LB    PDZGEF1    RAPGEF6    FNIP1

    RAPGEF3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/546 NCBI SNPs in RAPGEF3 are shown (see all 546    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 (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RAPGEF3: --

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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

    RAPGEF3 for disorders           About GeneDecksing

    OMIM gene information: 606057    OMIM disorders: --

    17 diseases for RAPGEF3:    About MalaCards
    nicotine dependence    acute lymphoblastic leukemia    lymphoblastic leukemia    follicular adenoma
    alzheimer's disease    melanoma metastasis    thrombocytopenia    adenoma
    gingivitis    pancreatic carcinoma    leukemia    melanoma
    pancreatitis    thyroiditis    carcinoma    prostatitis
    neuronitis

    4 Novoseek 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)

    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)
    About This Section

    PubMed articles for RAPGEF3 gene, integrated from 9 sources (see all 194):
    (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. (2000)
    2. A family of cAMP-binding proteins that directly activate rap1. (PubMed id 9856955)1, 2, 3 Kawasaki H.... Graybiel A.M. (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. (1998)
    4. A phosphodiesterase 3B-based signaling complex integr ates exchange protein activated by cAMP 1 and phosphatidylinositol 3-kinase sig nals in human arterial endothelial cells. (PubMed id 21393242)1, 2 Wilson L.S....Maurice D.H. (2011)
    5. 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. (2004)
    6. Structure and regulation of the cAMP-binding domains of Epac2. (PubMed id 12469113)1, 2 Rehmann H....Wittinghofer A. (2003)
    7. MAP1A light chain 2 interacts with exchange protein activated by cyclic AMP 1 (EPAC1) to enhance Rap1 GTPase activity and cell adhesion. (PubMed id 15591041)1, 9 Gupta M. and Yarwood S.J. (2005)
    8. Epac increases melanoma cell migration by a heparan s ulfate-related mechanism. (PubMed id 19657062)1, 9 Baljinnyam E....Ishikawa Y. (2009)
    9. Exchange protein directly activated by cAMP (EPAC) interacts with the light chain (LC) 2 of MAP1A. (PubMed id 15202935)1, 9 Magiera M.M....Yarwood S.J. (2004)
    10. The cyclic AMP effector Epac integrates pro- and anti-fibrotic signals. (PubMed id 18434542)1, 9 Yokoyama U....Insel P.A. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10411 HGNC: 16629 AceView: RAPGEF3 Ensembl:ENSG00000079337 euGenes: HUgn10411
    ECgene: RAPGEF3 Kegg: 10411 H-InvDB: RAPGEF3

    (According to HUGE)
    About This Section
      --

    (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 RAPGEF3 Pharmacogenomics, SNPs, Pathways

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



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