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Aliases for RAPGEF5 Gene

Aliases for RAPGEF5 Gene

  • Rap Guanine Nucleotide Exchange Factor 5 2 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
  • REPAC 3 4
  • GFR 3 4
  • KIAA0277 4
  • MRGEF 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 G-protein signaling_Rap2B regulation pathway and Development Angiotensin activation of ERK. 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

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

Genomics for RAPGEF5 Gene

Regulatory Elements for RAPGEF5 Gene

Enhancers for RAPGEF5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G022333 1.1 ENCODE dbSUPER 18.1 +23.4 23414 1.1 SOX13 PKNOX1 TBL1XR1 ETV1 TAL1 FOSL1 TCF12 ELK1 NCOR1 ZNF584 RAPGEF5 RNA5SP227
GH07G022355 1.6 FANTOM5 ENCODE dbSUPER 12.3 -0.7 -736 4.9 FOXA2 PKNOX1 ATF1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF48 RAPGEF5 GC07P022403
GH07G022301 1.1 ENCODE dbSUPER 17.4 +55.0 54971 0.6 HDAC1 FOXA2 ATF1 TBL1XR1 CHAMP1 TCF12 GATA2 CREM MIXL1 SMAD5 RAPGEF5 RNA5SP227
GH07G022429 1.6 Ensembl ENCODE dbSUPER 11.8 -74.9 -74855 5.6 MLX ARNT ZFP64 ARID4B ZNF766 FOS SP5 JUNB ZNF592 KAT8 RAPGEF5 AK3P3 RPL12P10 GC07P022403 GC07M022514
GH07G022331 0.9 ENCODE dbSUPER 18 +24.7 24714 1.3 CTCF SCRT1 FOXA2 HLF ZNF175 CEBPB CEBPG REST ATF3 CEBPA RAPGEF5 RNA5SP227
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAPGEF5 on UCSC Golden Path with GeneCards custom track

Promoters for RAPGEF5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209356 344 1201 PKNOX1 SAP130 SUZ12 BACH1 DMAP1 ZIC2 RAD21 ZNF48 POLR2A ZBTB48

Genomic Location for RAPGEF5 Gene

Chromosome:
7
Start:
22,118,238 bp from pter
End:
22,357,144 bp from pter
Size:
238,907 bases
Orientation:
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:
    Q92565-RPGF5_HUMAN
    Recommended name:
    Rap guanine nucleotide exchange factor 5
    Protein Accession:
    Q92565
    Secondary Accessions:
    • A4D140
    • Q8IXU5

    Protein attributes for RAPGEF5 Gene

    Size:
    580 amino acids
    Molecular mass:
    67733 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

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 Gene Families and 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.

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for RAPGEF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA,IEA 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

Activates:

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:0043547 positive regulation of GTPase activity 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - - - - - - - -
SP3:
SP4: - - - - -
SP5:
SP6: -
SP7:

ExUns: 19 ^ 20 ^ 21
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for RAPGEF5 Gene

GeneLoc Exon Structure for
RAPGEF5
ECgene alternative splicing isoforms for
RAPGEF5

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, PaxDb, MaxQB, and MOPED for RAPGEF5 Gene



NURSA nuclear receptor signaling pathways regulating expression of RAPGEF5 Gene:

RAPGEF5

SOURCE GeneReport for Unigene cluster for RAPGEF5 Gene:

Hs.174768

mRNA Expression by UniProt/SwissProt for RAPGEF5 Gene:

Q92565-RPGF5_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia RAPGEF5 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia RAPGEF5 34 35
  • 92.42 (n)
cow
(Bos Taurus)
Mammalia RAPGEF5 34 35
  • 90.32 (n)
mouse
(Mus musculus)
Mammalia Rapgef5 34 16 35
  • 88.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAPGEF5 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAPGEF5 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAPGEF5 34 35
  • 77.87 (n)
lizard
(Anolis carolinensis)
Reptilia RAPGEF5 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rapgef5 34
  • 75.14 (n)
zebrafish
(Danio rerio)
Actinopterygii rapgef5a 34 35
  • 62.73 (n)
rapgef5b 35
  • 46 (a)
OneToMany
wufk78a01 34
fruit fly
(Drosophila melanogaster)
Insecta Epac 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea epac-1 35
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD5 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
OneToMany
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

ENSEMBL:
Gene Tree for RAPGEF5 (if available)
TreeFam:
Gene Tree for RAPGEF5 (if available)

Paralogs for RAPGEF5 Gene

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

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 Sequence Context AA Info Type
rs1000014356 -- 22,171,224(+) TTAGC(C/T)GACAA intron-variant
rs1000026032 -- 22,244,931(+) TTACA(C/T)TTCCA intron-variant
rs1000033557 -- 22,152,740(+) TTATT(A/T)AAAAT intron-variant
rs1000064180 -- 22,225,769(+) CAGAA(A/G)AAAAA intron-variant
rs1000085357 -- 22,175,082(+) GAGAA(A/G)CAGAA 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)

Relevant External Links for RAPGEF5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAPGEF5

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

Disorders for RAPGEF5 Gene

Relevant External Links for RAPGEF5

Genetic Association Database (GAD)
RAPGEF5
Human Genome Epidemiology (HuGE) Navigator
RAPGEF5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAPGEF5

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 Lett. 1999) 2 3 4 22 64
  2. Identification of guanine nucleotide exchange factors (GEFs) for the Rap1 GTPase. Regulation of MR-GEF by M-Ras-GTP interaction. (PMID: 10934204) Rebhun J.F. … Quilliam L.A. (J. Biol. Chem. 2000) 3 4 22 64
  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 Res. 1996) 2 3 4 64
  4. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PMID: 21546767) Murea M. … Freedman B.I. (Am. J. Nephrol. 2011) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for RAPGEF5 Gene

Sources for RAPGEF5 Gene

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