RAPGEF6
Rap guanine nucleotide exchange factor 6
Gene Information Card
| Symbol | RAPGEF6 |
|---|---|
| Full Name | Rap guanine nucleotide exchange factor 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 51735 ncbi.nlm.nih.gov/gene/51735 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q8TEU7 |
| OMIM ID | 609894 |
| HGNC ID | 18295 |
| Aliases | PDZ-GEF2, CNRIP1, RA-GEF-2 |
Description
RAPGEF6 (Rap guanine nucleotide exchange factor 6) encodes a protein that activates Rap1 and Rap2 small GTPases by exchanging GDP for GTP. It contains a PDZ domain, a Ras-association domain, and a GEF catalytic domain. The gene is located on chromosome 5q31.1 and is involved in cell adhesion, migration, and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered Rap signaling; RAPGEF6 mutations may affect cell proliferation and migration | COSMIC; literature |
| Lung cancer | Somatic mutations reported; potential role in tumorigenesis | COSMIC |
| Melanoma | RAPGEF6 expression changes linked to metastasis | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 10.1 | Medium |
| Breast | 7.2 | Low |
| Testis | 15.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney |
| A549 | 6.5 | Lung carcinoma |
| HCT116 | 11.2 | Colorectal carcinoma |
| MCF7 | 5.9 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Truncation; likely loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Premature stop; loss of function |
| c.2345A>G (p.Tyr782Cys) | Missense | 0.2% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein lacking GEF domain, impairing Rap activation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations described in literature or databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rap1 signaling pathway (KEGG: hsa04015)
• cAMP signaling pathway (KEGG: hsa04024)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
RAPGEF6 is a 1,009-amino-acid protein that functions as a guanine nucleotide exchange factor (GEF) for Rap1 and Rap2. It contains an N-terminal PDZ domain, a central Ras-association (RA) domain, and a C-terminal GEF catalytic domain. The protein localizes to the plasma membrane and regulates cell adhesion, migration, and cytoskeletal dynamics. UniProt ID: Q8TEU7.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAPGEF6 Knockout HEK293 Cell Line | EDJ-KQ1307 | Human | 51735 | Details Get a Quote |
| RAPGEF6 Knockout HeLa Cell Line | EDJ-KQ19382 | Human | 51735 | Details Get a Quote |
| RAPGEF6 Knockout A-549 Cell Line | EDJ-KQ20729 | Human | 51735 | Details Get a Quote |
| RAPGEF6 Knockout HCT 116 Cell Line | EDJ-KQ20730 | Human | 51735 | Details Get a Quote |
