RASA4B: RAS p21 Protein Activator 4B
A regulator of RAS signaling with potential roles in cancer and development
Gene Information Card
| Symbol | RASA4B |
|---|---|
| Full Name | RAS p21 protein activator 4B |
| Gene Type | protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 100271581 ncbi.nlm.nih.gov/gene/100271581 |
| Ensembl ID | ENSG00000221988 |
| UniProt ID | Q15283 |
| OMIM ID | 617764 |
| HGNC ID | 37242 |
| Aliases | RASA4, MGC129610 |
Description
RASA4B encodes a member of the RAS GTPase-activating protein (GAP) family. It contains a RasGAP domain and is involved in the negative regulation of RAS signaling by stimulating the intrinsic GTPase activity of RAS proteins, converting them to the inactive GDP-bound state. RASA4B is located in a region of chromosome 7 that is frequently altered in cancers, suggesting a potential role in tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression or mutation may disrupt RAS regulation, leading to increased cell proliferation. | COSMIC database lists somatic mutations in RASA4B across multiple cancer types. |
| Developmental disorders | Potential involvement in RASopathies due to its role in RAS signaling, though specific evidence is limited. | Inferred from pathway similarity; no direct OMIM disease association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 7.1 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 6.8 | Cervical cancer cells |
| A549 | 5.4 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.I412V) | Missense | 0.01% (COSMIC) | Unknown; predicted benign by in silico tools. |
| c.567C>T (p.S189F) | Missense | 0.005% (COSMIC) | Potential impact on protein stability; not validated. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations may impair RAS GAP activity, leading to sustained RAS activation and oncogenic signaling.
Gain of Function (GOF)
No evidence for gain-of-function mutations; RASA4B is typically a negative regulator.
Dominant Negative (DN)
Not reported; no dominant-negative effects described.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • RAS GTPase binding |
| • Signal transduction | • Regulation of cell proliferation |
Pathways
• RAS signaling pathway
• MAPK signaling pathway
Protein Summary
RASA4B is a 1047-amino acid protein that contains a RasGAP domain. It functions as a GTPase-activating protein for RAS, accelerating GTP hydrolysis to downregulate RAS activity. The protein is localized to the cytoplasm and may be involved in regulating cell growth and differentiation. Its expression is relatively low in most tissues, with moderate levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RASA4B Knockout HEK293 Cell Line | EDJ-KQ1229 | Human | 100271927 | Details Get a Quote |
| RASA4B Knockout A-549 Cell Line | EDJ-KQ20567 | Human | 100271927 | Details Get a Quote |
| RASA4B Knockout HCT 116 Cell Line | EDJ-KQ20568 | Human | 100271927 | Details Get a Quote |
| RASA4B Knockout HeLa Cell Line | EDJ-KQ20569 | Human | 100271927 | Details Get a Quote |
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