RAPGEF5
Rap guanine nucleotide exchange factor 5
Gene Information Card
| Symbol | RAPGEF5 |
|---|---|
| Full Name | Rap guanine nucleotide exchange factor 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p15.3 |
| NCBI Gene ID | 9771 ncbi.nlm.nih.gov/gene/9771 |
| Ensembl ID | ENSG00000106367 |
| UniProt ID | Q92565 |
| OMIM ID | 609527 |
| HGNC ID | 16856 |
| Aliases | GFR, MR-GEF, RA-GEF-2, Rapgef5 |
Description
RAPGEF5 (Rap guanine nucleotide exchange factor 5) encodes a protein that activates Rap1 small GTPases by exchanging GDP for GTP. It contains a Ras-association (RA) domain and a CDC25 homology domain, and is involved in cell adhesion, migration, and signal transduction pathways. The gene is located on chromosome 7p15.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | RAPGEF5 may promote tumorigenesis via aberrant Rap1 activation | COSMIC mutation data; limited direct evidence |
| Developmental disorders | Potential role in neurodevelopment due to expression in brain | Inferred from expression and functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 3.4 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 9.7 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.01% | Likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations predicted to truncate the protein, impairing GEF activity.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • guanyl-nucleotide exchange factor activity (GO:0005085) | • small GTPase mediated signal transduction (GO:0007264) |
| • actin cytoskeleton organization (GO:0030036) | • plasma membrane (GO:0005886) |
Pathways
• Rap1 signaling pathway (Reactome: R-HSA-392517)
• cAMP-mediated signaling (Reactome: R-HSA-382556)
Protein Summary
RAPGEF5 is a 709-amino acid protein that acts as a guanine nucleotide exchange factor (GEF) for Rap1. It contains an N-terminal Ras-association (RA) domain and a C-terminal CDC25 homology domain. The protein localizes to the plasma membrane and regulates cell adhesion and migration through Rap1 activation. UniProt ID: Q92565.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAPGEF5 Knockout HEK293 Cell Line | EDJ-KQ1278 | Human | 9771 | Details Get a Quote |
| RAPGEF5 Knockout HCT 116 Cell Line | EDJ-KQ20667 | Human | 9771 | Details Get a Quote |
| RAPGEF5 Knockout HeLa Cell Line | EDJ-KQ55253 | Human | 9771 | Details Get a Quote |
| RAPGEF5 Knockout A-549 Cell Line | EDJ-KQ63729 | Human | 9771 | Details Get a Quote |
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