RAB22A
RAB22A, Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB22A |
|---|---|
| Full Name | RAB22A, Member RAS Oncogene Family |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.32 |
| NCBI Gene ID | 57403 ncbi.nlm.nih.gov/gene/57403 |
| Ensembl ID | ENSG00000124209 |
| UniProt ID | Q9UL26 |
| OMIM ID | 612966 |
| HGNC ID | 9768 |
| Aliases | RAB22, RAB22L1 |
Description
RAB22A encodes a member of the RAB family of small GTPases, which regulate intracellular vesicle trafficking, particularly endosomal transport and recycling. The protein cycles between active GTP-bound and inactive GDP-bound states, controlling membrane dynamics and cell signaling. RAB22A is implicated in cancer progression, especially in breast cancer metastasis, through modulation of endosomal recycling of growth factor receptors and integrins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | RAB22A overexpression promotes metastasis by enhancing recycling of integrins and EGFR, leading to increased cell migration and invasion. | PMID: 25624453; COSMIC |
| Lung Cancer | Altered RAB22A expression correlates with poor prognosis; may influence endosomal trafficking of oncogenic receptors. | PMID: 29187735; COSMIC |
| Ovarian Cancer | RAB22A upregulation associated with tumor progression and chemoresistance via endosomal recycling pathways. | PMID: 30108147; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Ovary | 10.1 | Medium |
| Brain | 6.7 | Low |
| Liver | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | Moderate expression |
| A549 (lung cancer) | 18.7 | Higher expression |
| HeLa (cervical cancer) | 11.3 | Moderate expression |
| HEK293 (embryonic kidney) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.1% (COSMIC) | Unknown functional impact; rare in cancers |
| c.485A>G (p.Asn162Ser) | Missense | <0.1% (COSMIC) | Predicted benign; no known disease association |
| c.1A>G (p.Met1Val) | Start loss | <0.1% (ClinVar) | Likely loss of function; reported in one individual with neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) predicted to abolish protein expression.
Gain of Function (GOF)
Not well documented; overexpression in cancer suggests potential gain-of-function via increased trafficking.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • endosomal transport |
| • vesicle-mediated transport | • regulation of cell migration |
Pathways
• Endosomal recycling pathway
• RAB regulation of trafficking
• Integrin signaling
Protein Summary
RAB22A is a small GTPase (184 amino acids, ~21 kDa) that localizes to early endosomes and recycling endosomes. It regulates the recycling of internalized receptors (e.g., EGFR, integrins) back to the plasma membrane, thereby modulating cell adhesion, migration, and growth factor signaling. Overexpression in several cancers enhances metastatic potential.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB22A Knockout HEK293 Cell Line | EDJ-KQ2974 | Human | 57403 | Details Get a Quote |
| RAB22A Knockout A-549 Cell Line | EDJ-KQ24143 | Human | 57403 | Details Get a Quote |
| RAB22A Knockout HCT 116 Cell Line | EDJ-KQ24144 | Human | 57403 | Details Get a Quote |
| RAB22A Knockout HeLa Cell Line | EDJ-KQ24145 | Human | 57403 | Details Get a Quote |
