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Aliases for RAPGEF5 Gene

Aliases for RAPGEF5 Gene

  • Rap Guanine Nucleotide Exchange Factor 5 2 3 3 5
  • Rap Guanine Nucleotide Exchange Factor (GEF) 5 2 3
  • Guanine Nucleotide Exchange Factor For Rap1 3 4
  • M-Ras-Regulated Rap GEF 3 4
  • M-Ras-Regulated GEF 2 3
  • Related To Epac 3 4
  • MR-GEF 3 4
  • GFR 3 4
  • KIAA0277 4
  • REPAC 3
  • MRGEF 4
  • Repac 4

External Ids for RAPGEF5 Gene

Previous GeneCards Identifiers for RAPGEF5 Gene

  • GC07M021903
  • GC07M021931

Summaries for RAPGEF5 Gene

Entrez Gene Summary for RAPGEF5 Gene

  • Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]

GeneCards Summary for RAPGEF5 Gene

RAPGEF5 (Rap Guanine Nucleotide Exchange Factor 5) is a Protein Coding gene. Among its related pathways are Ras signaling pathway and G-protein signaling_Cross-talk between Ras-family GTPases. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and Ras guanyl-nucleotide exchange factor activity. An important paralog of this gene is RAPGEF4.

UniProtKB/Swiss-Prot for RAPGEF5 Gene

  • Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation.

Gene Wiki entry for RAPGEF5 Gene

Additional gene information for RAPGEF5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAPGEF5 Gene

Genomics for RAPGEF5 Gene

GeneHancer (GH) Regulatory Elements for RAPGEF5 Gene

Promoters and enhancers for RAPGEF5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J022355 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 662.3 -0.7 -736 4.9 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 FOS RAPGEF5 GC07P022403
GH07J022498 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.1 -142.6 -142585 2.1 HDAC1 ATF1 TAF9B RB1 NFRKB SIN3A RAD21 CHAMP1 POLR2B ZNF143 STEAP1B RAPGEF5 GC07M022514 GC07P022403
GH07J022193 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 655.6 +163.2 163151 0.8 MXI1 MAX SIN3A REST SP1 POLR2A CTBP2 ZNF143 RAPGEF5 LOC105375184 GC07P022124
GH07J022429 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.8 -74.9 -74855 5.6 SMAD1 MLX ARNT ZFP64 ARID4B ZNF766 E2F8 FOS SP5 ZC3H11A RAPGEF5 RPL12P10 GC07P022403 GC07M022514 STEAP1B
GH07J022301 Enhancer 0.9 ENCODE dbSUPER 17.4 +55.0 54971 0.6 HDAC1 ATF1 NFATC3 TEAD4 TAL1 E4F1 TCF12 POLR2B POLR2A NCOR1 RAPGEF5 RNA5SP227
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAPGEF5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAPGEF5 gene promoter:
  • AP-1
  • MyoD
  • MZF-1
  • p53
  • S8
  • CP2
  • NF-1/L
  • NF-1
  • C/EBPalpha
  • AP-4

Genomic Locations for RAPGEF5 Gene

Genomic Locations for RAPGEF5 Gene
238,907 bases
Minus strand
238,908 bases
Minus strand

Genomic View for RAPGEF5 Gene

Genes around RAPGEF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAPGEF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAPGEF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAPGEF5 Gene

Proteins for RAPGEF5 Gene

  • Protein details for RAPGEF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Rap guanine nucleotide exchange factor 5
    Protein Accession:
    Secondary Accessions:
    • A4D140
    • Q8IXU5

    Protein attributes for RAPGEF5 Gene

    580 amino acids
    Molecular mass:
    67733 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA13406.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAPGEF5 Gene

    Alternative splice isoforms for RAPGEF5 Gene


neXtProt entry for RAPGEF5 Gene

Post-translational modifications for RAPGEF5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAPGEF5 Gene

Domains & Families for RAPGEF5 Gene

Gene Families for RAPGEF5 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for RAPGEF5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RAPGEF5: view

No data available for UniProtKB/Swiss-Prot for RAPGEF5 Gene

Function for RAPGEF5 Gene

Molecular function for RAPGEF5 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation.

Phenotypes From GWAS Catalog for RAPGEF5 Gene

Gene Ontology (GO) - Molecular Function for RAPGEF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS 10934204
GO:0017034 Rap guanyl-nucleotide exchange factor activity IDA 10486569
GO:0030742 GTP-dependent protein binding IPI 10934204
genes like me logo Genes that share ontologies with RAPGEF5: view
genes like me logo Genes that share phenotypes with RAPGEF5: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RAPGEF5 Gene

Localization for RAPGEF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAPGEF5 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAPGEF5 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAPGEF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA,IDA 10486569
GO:0005654 nucleoplasm IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with RAPGEF5: view

Pathways & Interactions for RAPGEF5 Gene

genes like me logo Genes that share pathways with RAPGEF5: view

SIGNOR curated interactions for RAPGEF5 Gene


Gene Ontology (GO) - Biological Process for RAPGEF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction NAS 10486569
GO:0007399 nervous system development NAS 10486569
GO:0035556 intracellular signal transduction IEA --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with RAPGEF5: view

Drugs & Compounds for RAPGEF5 Gene

(4) Drugs for RAPGEF5 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
antidepressants Pharma 0
genes like me logo Genes that share compounds with RAPGEF5: view

Transcripts for RAPGEF5 Gene

Unigene Clusters for RAPGEF5 Gene

Rap guanine nucleotide exchange factor (GEF) 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEF5 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^
SP1: - - - -
SP2: - - - - - - - -
SP4: - - - - -
SP6: -

ExUns: 19 ^ 20 ^ 21
SP1: -
SP2: -

Relevant External Links for RAPGEF5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RAPGEF5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAPGEF5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAPGEF5 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x9.2) and Brain - Substantia nigra (x4.5).

Protein differential expression in normal tissues from HIPED for RAPGEF5 Gene

This gene is overexpressed in Adipocyte (20.1), Liver (19.0), Spleen (13.6), and Neutrophil (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAPGEF5 Gene

NURSA nuclear receptor signaling pathways regulating expression of RAPGEF5 Gene:


SOURCE GeneReport for Unigene cluster for RAPGEF5 Gene:


mRNA Expression by UniProt/SwissProt for RAPGEF5 Gene:

Tissue specificity: Widely expressed with highest levels in brain.

Evidence on tissue expression from TISSUES for RAPGEF5 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with RAPGEF5: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAPGEF5 Gene

Orthologs for RAPGEF5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAPGEF5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RAPGEF5 34 33
  • 99.68 (n)
(Canis familiaris)
Mammalia RAPGEF5 34 33
  • 92.42 (n)
(Bos Taurus)
Mammalia RAPGEF5 34 33
  • 90.32 (n)
(Mus musculus)
Mammalia Rapgef5 16 34 33
  • 88.22 (n)
(Ornithorhynchus anatinus)
Mammalia RAPGEF5 34
  • 84 (a)
(Monodelphis domestica)
Mammalia RAPGEF5 34
  • 79 (a)
(Gallus gallus)
Aves RAPGEF5 34 33
  • 77.87 (n)
(Anolis carolinensis)
Reptilia RAPGEF5 34
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rapgef5 33
  • 75.14 (n)
(Danio rerio)
Actinopterygii rapgef5a 34 33
  • 62.73 (n)
rapgef5b 34
  • 46 (a)
wufk78a01 33
fruit fly
(Drosophila melanogaster)
Insecta Epac 34
  • 25 (a)
(Caenorhabditis elegans)
Secernentea epac-1 34
  • 21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD5 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
Species where no ortholog for RAPGEF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAPGEF5 Gene

Gene Tree for RAPGEF5 (if available)
Gene Tree for RAPGEF5 (if available)
Evolutionary constrained regions (ECRs) for RAPGEF5: view image

Paralogs for RAPGEF5 Gene

(6) SIMAP similar genes for RAPGEF5 Gene using alignment to 6 proteins:

  • A8MQ07_HUMAN
  • F8WD32_HUMAN
genes like me logo Genes that share paralogs with RAPGEF5: view

Variants for RAPGEF5 Gene

Sequence variations from dbSNP and Humsavar for RAPGEF5 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000014356 -- 22,171,224(-) C/T intron_variant
rs1000026032 -- 22,244,931(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000033557 -- 22,152,740(-) A/T intron_variant
rs1000064180 -- 22,225,769(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000085357 -- 22,175,082(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RAPGEF5 Gene

Variant ID Type Subtype PubMed ID
esv1239094 CNV deletion 17803354
esv2333221 CNV deletion 18987734
esv2661030 CNV deletion 23128226
esv2665146 CNV deletion 23128226
esv2734118 CNV deletion 23290073
esv2734119 CNV deletion 23290073
esv2734120 CNV deletion 23290073
esv3612511 CNV loss 21293372
esv3612512 CNV loss 21293372
esv3612514 CNV loss 21293372
esv3612515 CNV loss 21293372
esv3612516 CNV loss 21293372
esv4118 CNV loss 18987735
nsv1119109 CNV deletion 24896259
nsv1140750 CNV deletion 24896259
nsv1150347 CNV deletion 26484159
nsv365300 CNV deletion 16902084
nsv606405 CNV loss 21841781
nsv7393 OTHER inversion 18451855
nsv830923 CNV gain 17160897
nsv958423 CNV deletion 24416366

Variation tolerance for RAPGEF5 Gene

Residual Variation Intolerance Score: 56.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.86; 58.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAPGEF5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAPGEF5 Gene

Disorders for RAPGEF5 Gene

Additional Disease Information for RAPGEF5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RAPGEF5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAPGEF5 Gene

Publications for RAPGEF5 Gene

  1. Characterization of GFR, a novel guanine nucleotide exchange factor for Rap1. (PMID: 10486569) Ichiba T … Kuraishi Y (FEBS letters 1999) 2 3 4 22 58
  2. Identification of guanine nucleotide exchange factors (GEFs) for the Rap1 GTPase. Regulation of MR-GEF by M-Ras-GTP interaction. (PMID: 10934204) Rebhun JF … Quilliam LA (The Journal of biological chemistry 2000) 3 4 22 58
  3. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 58
  4. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PMID: 21546767) Murea M … Freedman BI (American journal of nephrology 2011) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for RAPGEF5 Gene

Sources for RAPGEF5 Gene

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