Gene Gene information from NCBI Gene database.
Entrez ID 9771
Gene name Rap guanine nucleotide exchange factor 5
Gene symbol RAPGEF5
Synonyms (NCBI Gene)
GFRMR-GEFMRGEFREPAC
Chromosome 7
Chromosome location 7p15.3
Summary 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 a
miRNA miRNA information provided by mirtarbase database.
128
miRTarBase ID miRNA Experiments Reference
MIRT1290865 hsa-miR-101 CLIP-seq
MIRT1290866 hsa-miR-103a CLIP-seq
MIRT1290867 hsa-miR-107 CLIP-seq
MIRT1290868 hsa-miR-1208 CLIP-seq
MIRT1290869 hsa-miR-1270 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 10486569
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS 10934204
GO:0005515 Function Protein binding IPI 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609527 16862 ENSG00000136237
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92565
Protein name Rap guanine nucleotide exchange factor 5 (Guanine nucleotide exchange factor for Rap1) (M-Ras-regulated Rap GEF) (MR-GEF) (Related to Epac) (Repac)
Protein function Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation.
PDB 1WGY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00618 RasGEF_N 71 176 RasGEF N-terminal motif Domain
PF00617 RasGEF 348 525 RasGEF domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in brain.
Sequence
MGSSRLRVFDPHLERKDSAAALSDRELPLPTFDVPYFKYIDEEDEDDEWSSRSQSSTEDD
SVDSLLSDRYVVVSGTPEKILEHLLNDLHLEEVQDKETETLLDDFLLTYTVFMTTDDLCQ
ALLRHYSAKKYQGKEENSDVPRRKRKVLHLVSQWIALYKDWLPEDEHSKMFLKTIY
RNVL
DDVYEYPILEKELKEFQKILGMHRRHTVDEYSPQKKNKALFHQFSLKENWLQHRGTVTET
EEIFCHVYITEHSYVSVKAKVSSIAQEILKVVAEKIQYAEEDLALVAITFSGEKHELQPN
DLVISKSLEASGRIYVYRKDLADTLNPFAENEESQQRSMRILGMNTWDLALELMNFDWSL
FNSIHEQELIYFTFSRQGSGEHTANLSLLLQRCNEVQLWVATEILLCSQLGKRVQLVKKF
IKIAAHCKAQRNLNSFFAIVMGLNTASVSRLSQTWEKIPGKFKKLFSELESLTDPSLNHK
AYRDAFKKMKPPKIPFMPLLLKDVTFIHEGNKTFLDNLVNFEKLH
MIADTVRTLRHCRTN
QFGDLSPKEHQELKSYVNHLYVIDSQQALFELSHRIEPRV
Sequence length 580
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Ras signaling pathway
Rap1 signaling pathway
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dilated cardiomyopathy 1A Likely pathogenic rs2128099721 RCV002259540
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 20569503
Cholangiocarcinoma Associate 37705041
Chronic Kidney Disease Mineral and Bone Disorder Associate 24925724
Colorectal Neoplasms Associate 23434627
COVID 19 Associate 32877642
Leukemia Myelogenous Chronic BCR ABL Positive Associate 24362263
Lymphoma T Cell Associate 2789474
Myotonic Disorders Associate 18163995
Neoplasms Associate 19582519, 19667409, 20569503
Pdgfrb Associated Chronic Eosinophilic Leukemia Associate 33386673