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

RAPGEF4 Gene

protein-coding   GIFtS: 62
GCID: GC02P173600

Rap Guanine Nucleotide Exchange Factor (GEF) 4

(Previous name: RAP guanine-nucleotide-exchange factor (GEF) 4)
  See related diseases
at  

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

Aliases
Rap Guanine Nucleotide Exchange Factor (GEF) 41 2      Exchange Protein Directly Activated By CAMP 21
CAMP-Regulated Guanine Nucleotide Exchange Factor II1 2 3     22
RAP Guanine-Nucleotide-Exchange Factor (GEF) 41 2     CAMP-GEFII2
Exchange Factor Directly Activated By CAMP 22 3     EPAC2
Exchange Protein Directly Activated By CAMP 22 3     Nbla004962
CGEF22 3     Putative Protein Product Of Nbla004962
EPAC22 3     Rap Guanine Nucleotide Exchange Factor 42
EPAC 22 3     cAMP-GEFII3

External Ids:    HGNC: 166261   Entrez Gene: 110692   Ensembl: ENSG000000914287   OMIM: 6060585   UniProtKB: Q8WZA23   

Export aliases for RAPGEF4 gene to outside databases

Previous GC identifers: GC02P173804 GC02P173426 GC02P173308 GC02P165478


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

GeneCards Summary for RAPGEF4 Gene: 
RAPGEF4 (Rap guanine nucleotide exchange factor (GEF) 4) is a protein-coding gene. Diseases associated with RAPGEF4 include chronic obstructive pulmonary disease, and pancreatitis, and among its related super-pathways are Regulation of Insulin Secretion and Platelet Aggregation (Plug Formation). 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: RPGF4_HUMAN, Q8WZA2
Function: Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by
binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through
interaction with RIMS2 (By similarity)

Gene Wiki entry for RAPGEF4 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_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAPGEF4 gene promoter:
         STAT1   STAT4   MEF-2   STAT1beta   STAT5A   STAT1alpha   MEF-2A   STAT2   STAT3   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAPGEF4 promoter sequence
   Search SABiosciences Chromatin IP Primers for RAPGEF4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAPGEF4


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

Entrez Gene cytogenetic band: 2q31-q32   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31-q32

RAPGEF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAPGEF4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P173600:  view genomic region     (about GC identifiers)

Start:
173,600,002 bp from pter      End:
173,917,621 bp from pter
Size:
317,620 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: RPGF4_HUMAN, Q8WZA2 (See protein sequence)
Recommended Name: Rap guanine nucleotide exchange factor 4  
Size: 1011 amino acids; 115522 Da
Subunit: Interacts with RIMS1 and RIMS2. Probably part of a complex with RIMS2 and GTP-activated RAB3A (By
similarity)
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein (By similarity)
Secondary accessions: B2R7R3 B7Z912 O95636 Q8IXK6 Q8TAA4
Alternative promoter usage, Alternative splicing: 3 isoforms:  Q8WZA2-1   Q8WZA2-2   Q8WZA2-3   (Produced by alternative splicing of isoform 1. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAPGEF4: NX_Q8WZA2

Explore proteomics data for RAPGEF4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WZA2

  • RAPGEF4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAPGEF4 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001093867.1  NP_001269828.1  NP_001269829.1  NP_001269830.1  NP_008954.2  

    ENSEMBL proteins: 
     ENSP00000380271   ENSP00000387104   ENSP00000380276   ENSP00000380274   ENSP00000264111  
     ENSP00000440135   ENSP00000440250   ENSP00000437384   ENSP00000438011  
    Reactome Protein details: Q8WZA2
    Human Recombinant Protein Products for RAPGEF4: 
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    Novus Biologicals RAPGEF4 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RAPGEF4 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0005952cAMP-dependent protein kinase complex IEA--
    GO:0016020membrane TAS10777494

    RAPGEF4 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
    IUPHAR Guide to PHARMACOLOGY protein family classification: Epac2 
    Exchange protein activated by cyclic AMP (Epac)

    5/12 InterPro protein domains (see all 12):
     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 Q8WZA2

    ProtoNet protein and cluster: Q8WZA2

    5 Blocks protein domains:
    IPB000159 RA domain
    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: RPGF4_HUMAN, Q8WZA2
    Domain: The N-terminal nucleotide phosphate binding region cAMP 1 has a much lower affinity for cAMP as compared
    to cAMP 2
    Domain: The DEP domain is involved in membrane localization independent from regulation by cAMP (By similarity)
    Similarity: Contains 2 cyclic nucleotide-binding domains
    Similarity: Contains 1 DEP domain
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 Ras-GEF domain


    RAPGEF4 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: RPGF4_HUMAN, Q8WZA2
    Function: Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by
    binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through
    interaction with RIMS2 (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity TAS9856955
    GO:0005088Ras guanyl-nucleotide exchange factor activity ISS--
    GO:0005515protein binding IPI11438518
    GO:0008603cAMP-dependent protein kinase regulator activity IEA--
    GO:0017016Ras GTPase binding ISS--
         
    RAPGEF4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RAPGEF4:
     Upregulation of Wnt/beta-caten 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rapgef4):
     endocrine/exocrine gland  homeostasis/metabolism 

    RAPGEF4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rapgef4tm1.1Sse for RAPGEF4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RAPGEF4 
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    SwitchGear 3'UTR luciferase reporter plasmidRAPGEF4 3' UTR sequence
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    (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 RAPGEF4 About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Insulin Secretion
    Regulation of Insulin Secretion0.74
    Regulation of Insulin Secretion by Glucagon-like Peptide-10.55
    Integration of energy metabolism0.74
    2Integrin alphaIIb beta3 signaling
    Integrin alphaIIb beta3 signaling0.73
    Platelet Aggregation (Plug Formation)0.73
    3Immune System
    Immune System0.56
    Adaptive Immune System0.56
    4Platelet activation, signaling and aggregation
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    5G-protein signaling Rap1A regulation pathway
    G-protein signaling Rap1A regulation pathway0.88

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for RAPGEF4
        G-protein signaling G-Protein alpha-s signaling cascades
    Signal transduction cAMP signaling
    G-protein signaling Rap1A regulation pathway

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RAPGEF4
        cAMP Pathway
    GPCR Pathway
    Transendothelial Migration of Leukocytes

    3 GeneGo (Thomson Reuters) Pathways for RAPGEF4
        G-protein signaling G-Protein alpha-s signaling cascades
    G-protein signaling Rap1A regulation pathway
    Signal transduction cAMP signaling

    5/13        Reactome Pathways for RAPGEF4 (see all 13)
        Hemostasis
    Integrin cell surface interactions
    Metabolism
    Regulation of Insulin Secretion
    Adaptive Immune System


    2         Kegg Pathways  (Kegg details for RAPGEF4):
        Leukocyte transendothelial migration
    Insulin secretion


    RAPGEF4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAPGEF4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/25 Interacting proteins for RAPGEF4 (Q8WZA22, 3 ENSP000003802714) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2869360 I2D: score=3 STRING: ENSP00000244769
    RIMS2Q9UQ263, ENSP000003862284I2D: score=4 STRING: ENSP00000390665 STRING: ENSP00000386228
    RAP1AP628343, ENSP000003487864I2D: score=2 STRING: ENSP00000348786
    MAP1AP785593, ENSP000003002314I2D: score=1 STRING: ENSP00000300231
    RIMS1Q86UR53, ENSP000002648394I2D: score=1 STRING: ENSP00000264839
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0007165signal transduction ----
    GO:0007186G-protein coupled receptor signaling pathway TAS9856955
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0007596blood coagulation TAS--

    RAPGEF4 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

    RAPGEF4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for RAPGEF4

    Browse Tocris compounds for RAPGEF4 (RPGF4)

    4 HMDB Compounds for RAPGEF4    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--

    2 Novoseek inferred chemical compound relationships for RAPGEF4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclic amp 50 14 16507992 (1), 18660803 (1), 19788733 (1)
    calcium 1.92 4 11600673 (2), 11598134 (1)

    Search CenterWatch for drugs/clinical trials and news about RAPGEF4 / RPGF4

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 RAPGEF4 gene (5 alternative transcripts): 
    NM_001100397.1  NM_001282899.1  NM_001282900.1  NM_001282901.1  NM_007023.3  

    Unigene Cluster for RAPGEF4:

    Rap guanine nucleotide exchange factor (GEF) 4
    Hs.470646  [show with all ESTs]
    Unigene Representative Sequence: AB209681
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484331 ENST00000397081 ENST00000409036 ENST00000464976(uc010fqn.3)
    ENST00000397087(uc002uhw.4) ENST00000473003 ENST00000473043 ENST00000466030
    ENST00000473182 ENST00000459852 ENST00000397085 ENST00000484645 ENST00000264111(uc002uhv.4)
    ENST00000538974(uc010zed.1 uc010zef.1) ENST00000540783(uc010zec.1)
    ENST00000539331(uc010zee.1 uc010fqo.2 uc010zeg.1) ENST00000535187(uc010fqp.1 uc010zeh.1)

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    Additional mRNA sequence: 

    AB027471.1 AB075513.1 AB209681.1 AK294433.1 AK294445.1 AK294914.1 AK294997.1 AK295002.1 
    AK296340.1 AK302732.1 AK304278.1 AK310373.1 AK311165.1 AK311500.1 AK311575.1 AK311697.1 
    AK313084.1 AK316014.1 AK316072.1 BC024004.2 BC040183.2 U78516.1 

    8 DOTS entries:

    DT.107480  DT.99954873  DT.100018395  DT.120966819  DT.120966918  DT.439209  DT.99931192  DT.91644542 

    24/62 AceView cDNA sequences (see all 62):

    AV708028 BG547379 AB027471 Z43857 BX645270 AI205130 F07089 AL119792 
    BM548542 BG700059 AI003002 BG059587 BQ187703 AL119269 BG706198 F03363 
    U78516 BP361864 BE889718 BF762294 BG429570 Z39923 AW016479 BC040183 

    GeneLoc Exon Structure


    (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

    RAPGEF4 expression in normal human tissues (normalized intensities)      RAPGEF4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTAAAGCTT
    RAPGEF4 Expression
    About this image


    RAPGEF4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Amygdala
             ganglion/cranial/facial VII   
     
     Adrenal Gland (Endocrine System)

    See RAPGEF4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAPGEF4

    SOURCE GeneReport for Unigene cluster: Hs.470646

    UniProtKB/Swiss-Prot: RPGF4_HUMAN, Q8WZA2
    Tissue specificity: Predominantly expressed in brain and adrenal gland. Isoform 2 is expressed in liver. Isoform 1
    is expressed in liver at very low levels

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPGEF4

    (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 RAPGEF4 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rapgef41 , 5 Rap guanine nucleotide exchange factor (GEF) 41, 5 91.53(n)1
    97.33(a)1
      2 (42.90 cM)5
    565081  NM_001204165.11  NP_001191094.11 
     719812405 
    chicken
    (Gallus gallus)
    Aves RAPGEF41 Rap guanine nucleotide exchange factor (GEF) 4 83.47(n)
    92.08(a)
      429022  XM_426579.3  XP_426579.3 
    lizard
    (Anolis carolinensis)
    Reptilia RAPGEF46
    Uncharacterized protein
    88(a)
    1 ↔ 1
    GL343316.1(1257916-1351535)
    zebrafish
    (Danio rerio)
    Actinopterygii rapgef41 Rap guanine nucleotide exchange factor (GEF) 4 71.88(n)
    78.96(a)
      559170  XM_682486.3  XP_687578.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Epac1 CG34392-PC 53.5(n)
    50.77(a)
      35588  NM_001103732.1  NP_001097202.1 
    worm
    (Caenorhabditis elegans)
    Secernentea epac-11 Protein EPAC-1 46.94(n)
    37.49(a)
      176432  NM_066855.2  NP_499256.1 


    ENSEMBL Gene Tree for RAPGEF4 (if available)
    TreeFam Gene Tree for RAPGEF4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAPGEF4 gene
    RAPGEFL12  RAPGEF22  RASGRP42  RAPGEF62  RASGRP12  RAPGEF32  RASGEF1A2  RASGEF1C2  
    RAPGEF52  RASGRP32  RASGEF1B2  RASGRP22  
    9 SIMAP similar genes for RAPGEF4 using alignment to 7 protein entries:     RPGF4_HUMAN (see all proteins):
    Nbla00496    CGEF2    RAPGEF3    RAPGEFL1    RAPGEF5    FNIP1
    RAPGEF6    DKFZp667A016    DKFZp781H1715

    RAPGEF4 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

    10/6108 SNPs in RAPGEF4 are shown (see all 6108)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420947421,2
    Cuntested1173296349(+) CAAGAC/TGTTCA 2 T M mis10--------
    rs343748991,2
    C--165661431(+) TTTTT-/T/TT  
            
    ACTCT
    2 -- int11NA 2
    rs20594251,2
    C,F,A,H--173079409(-) aacccC/Tgtctc 1 -- us2k13Minor allele frequency- T:0.33NA WA 6
    rs286352351,2
    C--173079419(+) TTCACC/TGTTTT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs20594241,2
    C,F--173079422(-) gctaaC/Aacggt 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1437932311,2
    C--173079502(+) CGTGAA/GCCACC 1 -- us2k10--------
    rs1458878641,2
    --173079663(+) GTTGAC/TCTAAG 1 -- us2k10--------
    rs1148311981,2
    C,F--173079872(+) GTGGCA/GTGTTT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs773673831,2
    C,F--173079897(+) GGAATA/GTTTCA 1 -- us2k12Minor allele frequency- G:0.08CSA WA 120
    rs102023351,2
    C,F--173079979(+) AAATCC/TATGAA 1 -- us2k12Minor allele frequency- T:0.12WA NA 238

    HapMap Linkage Disequilibrium report for RAPGEF4 (173600002 - 173850002 bp, first 250kb of RAPGEF4)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for RAPGEF4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2678314CNV Deletion23128226
    esv2721145CNV Deletion23290073
    esv5188CNV Deletion18987735
    esv2721146CNV Deletion23290073
    esv2668640CNV Deletion23128226
    esv269328CNV Insertion20981092
    esv267517CNV Insertion20981092
    nsv834459CNV Gain17160897
    nsv483123CNV Gain15286789


    Human Gene Mutation Database (HGMD): RAPGEF4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RAPGEF4
    DNA2.0 Custom Variant and Variant Library Synthesis for RAPGEF4

    (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
    OMIM gene information: 606058    OMIM disorders: --

    4 diseases for RAPGEF4:    About MalaCards
    chronic obstructive pulmonary disease    pancreatitis    endotheliitis    neuronitis


    RAPGEF4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RAPGEF4
    Human Genome Epidemiology (HuGE) Navigator: RAPGEF4 (6 documents)

    Export disorders for RAPGEF4 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 RAPGEF4 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with RAPGEF4)
        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. Characterization of the gene EPAC2: structure, chromosomal localization, tissue expression, and identification of the liver- specific isoform. (PubMed id 11707077)1, 2, 9 Ueno H.... Seino S. (2001)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Genes related to sex steroids, neural growth, and soc ial-emotional behavior are associated with autistic traits, empathy, and Asperg er syndrome. (PubMed id 19598235)1, 4 Chakrabarti B....Baron-Cohen S. (2009)
    6. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PubMed id 19401682)1, 4 Maestrini E....Monaco A.P. (2009)
    7. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (2008)
    8. 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)
    9. Critical role of cAMP-GEFII--Rim2 complex in incretin-potentiated insulin secretion. (PubMed id 11598134)1, 9 Kashima Y....Seino S. (2001)
    10. Role of guanine-nucleotide exchange factor Epac in ren al physiology and pathophysiology. (PubMed id 23364803)1 Yang S.K....Kanwar Y.S. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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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: 11069 HGNC: 16626 AceView: RAPGEF4 Ensembl:ENSG00000091428 euGenes: HUgn11069
    ECgene: RAPGEF4 Kegg: 11069 H-InvDB: RAPGEF4

    (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 RAPGEF4 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 RAPGEF4 gene:
    Search GeneIP for patents involving RAPGEF4

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



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