RALGAPA2 Gene
Ral GTPase Activating Protein Catalytic Subunit Alpha 2
Gene Information Card
| Symbol | RALGAPA2 |
|---|---|
| Full Name | Ral GTPase Activating Protein Catalytic Subunit Alpha 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.32 |
| NCBI Gene ID | 57151 ncbi.nlm.nih.gov/gene/57151 |
| Ensembl ID | ENSG00000142611 |
| UniProt ID | Q6ZVM7 |
| OMIM ID | 616495 |
| HGNC ID | 29229 |
| Aliases | KIAA1271, RALGAPA2, FLJ10377 |
Description
RALGAPA2 encodes the catalytic subunit of the Ral GTPase activating protein (RalGAP) complex, which negatively regulates RalA and RalB signaling by stimulating GTP hydrolysis. This gene is involved in cellular processes including vesicle trafficking, cell migration, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Loss of RALGAPA2 function leads to increased Ral activity, promoting tumor growth and metastasis | COSMIC, literature |
| Intellectual disability | Homozygous loss-of-function variants associated with neurodevelopmental phenotypes | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Moderate expression |
| A549 | 7.5 | Low expression |
| MCF7 | 6.3 | Low 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.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function |
| c.2345G>A (p.Arg782His) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Ral GTPase binding |
| • cytoplasm | • cytosol |
| • intracellular signal transduction |
Pathways
• Ral GTPase cycle
• RalA/RalB signaling
• Regulation of exocytosis
Protein Summary
RALGAPA2 is a 1707-amino acid protein that forms a heterodimeric complex with RALGAPB to function as a GTPase activating protein (GAP) for RalA and RalB. It contains a PH domain and a GAP domain. The protein is predominantly cytoplasmic and regulates Ral-mediated signaling in cell adhesion, migration, and vesicle transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RALGAPA2 Knockout HEK293 Cell Line | EDJ-KQ1244 | Human | 57186 | Details Get a Quote |
| RALGAPA2 Knockout HCT 116 Cell Line | EDJ-KQ19247 | Human | 57186 | Details Get a Quote |
| RALGAPA2 Knockout A-549 Cell Line | EDJ-KQ20605 | Human | 57186 | Details Get a Quote |
| RALGAPA2 Knockout HeLa Cell Line | EDJ-KQ20607 | Human | 57186 | Details Get a Quote |
