RAPGEF2 Gene (Rap Guanine Nucleotide Exchange Factor 2)
A key regulator of Rap1 and Rap2 small GTPases involved in cell adhesion, migration, and signaling.
Gene Information Card
| Symbol | RAPGEF2 |
|---|---|
| Full Name | Rap guanine nucleotide exchange factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q32.1 |
| NCBI Gene ID | 9693 ncbi.nlm.nih.gov/gene/9693 |
| Ensembl ID | ENSG00000109756 |
| UniProt ID | Q9Y4G8 |
| OMIM ID | 609530 |
| HGNC ID | 16854 |
| Aliases | CNrasGEF, PDZ-GEF1, RA-GEF, nRapGEP |
Description
RAPGEF2 (Rap guanine nucleotide exchange factor 2) encodes a protein that activates Rap1 and Rap2 small GTPases by exchanging GDP for GTP. It contains a Ras exchange motif, a PDZ domain, and a cyclic nucleotide-binding domain, and is involved in cell adhesion, migration, and signal transduction pathways. The gene is located on chromosome 4q32.1 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | RAPGEF2 overexpression may promote tumorigenesis via Rap1 activation; somatic mutations reported in COSMIC. | COSMIC, literature |
| Lung cancer | Altered expression and mutations observed; potential role in cell migration. | COSMIC, literature |
| Neurodevelopmental disorders | Rare variants in RAPGEF2 have been associated with intellectual disability and autism spectrum disorder. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Liver | 6.1 | Low |
| Kidney | 7.4 | Medium |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| A549 | 7.2 | Low expression |
| SH-SY5Y | 14.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Glu189Lys) | Missense | 0.02% | Unknown |
| c.2345_2346insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not well characterized; some missense variants may increase exchange activity.
Dominant Negative (DN)
Not reported for RAPGEF2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rap1 signaling pathway (KEGG: hsa04015)
• cAMP signaling pathway (KEGG: hsa04024)
• Chemokine signaling pathway (KEGG: hsa04062)
Protein Summary
The RAPGEF2 protein (UniProt Q9Y4G8) is a 1,499-amino-acid guanine nucleotide exchange factor that specifically activates Rap1 and Rap2. It contains an N-terminal cyclic nucleotide-binding domain, a central PDZ domain, and a C-terminal Ras exchange motif. The protein localizes to the plasma membrane and cytoplasm, and regulates cell adhesion, migration, and neurite outgrowth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAPGEF2 Knockout HEK293T Cell Line | EDJ-KQ182 | Human | 9693 | Details Get a Quote |
| RAPGEF2 Knockout HEK293 Cell Line | EDJ-KQ17896 | Human | 9693 | Details Get a Quote |
| RAPGEF2 Knockout A-549 Cell Line | EDJ-KQ19383 | Human | 9693 | Details Get a Quote |
| RAPGEF2 Knockout HCT 116 Cell Line | EDJ-KQ19384 | Human | 9693 | Details Get a Quote |
| RAPGEF2 Knockout HeLa Cell Line | EDJ-KQ19385 | Human | 9693 | Details Get a Quote |
