RALGAPB Gene
Ral GTPase Activating Protein Catalytic Subunit Beta
Gene Information Card
| Symbol | RALGAPB |
|---|---|
| Full Name | Ral GTPase Activating Protein Catalytic Subunit Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 57148 ncbi.nlm.nih.gov/gene/57148 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q96E09 |
| OMIM ID | 610544 |
| HGNC ID | 29241 |
| Aliases | KIAA1050, RALGAPB1, RALGAPB2 |
Description
RALGAPB encodes the beta catalytic subunit of the Ral GTPase activating protein (RalGAP) complex. This complex negatively regulates RalA and RalB GTPases by stimulating their GTP hydrolysis, thereby controlling cell proliferation, migration, and vesicle trafficking. RALGAPB is widely expressed and has been implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of Ral signaling via altered RALGAPB expression or mutation promotes tumorigenesis | COSMIC, literature |
| Type 2 diabetes | Impaired RalGAP activity affects insulin secretion and glucose homeostasis | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| A549 | 7.3 | Low expression |
| MCF7 | 6.9 | 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.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.890A>G (p.Gln297Arg) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein and loss of catalytic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Ral GTPase binding |
| • Cytoplasm | • Intracellular signal transduction |
Pathways
• Ral signaling pathway
• Regulation of exocytosis
• Insulin secretion
Protein Summary
RALGAPB is a 110 kDa protein that forms a heterodimeric complex with RALGAPA to constitute the RalGAP complex. It contains a catalytic domain that accelerates GTP hydrolysis on RalA and RalB. The protein is localized in the cytoplasm and is involved in regulating cell adhesion, migration, and insulin granule exocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RALGAPB Knockout HEK293 Cell Line | EDJ-KQ1245 | Human | 57148 | Details Get a Quote |
| RALGAPB Knockout A-549 Cell Line | EDJ-KQ20608 | Human | 57148 | Details Get a Quote |
| RALGAPB Knockout HCT 116 Cell Line | EDJ-KQ20609 | Human | 57148 | Details Get a Quote |
| RALGAPB Knockout HeLa Cell Line | EDJ-KQ20610 | Human | 57148 | Details Get a Quote |
