RAB20: A Member of the RAS Oncogene Family
RAB20 Gene - Function, Expression, and Disease Associations
Gene Information Card
| Symbol | RAB20 |
|---|---|
| Full Name | RAB20, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 55647 ncbi.nlm.nih.gov/gene/55647 |
| Ensembl ID | ENSG00000139832 |
| UniProt ID | Q9NX57 |
| OMIM ID | 617909 |
| HGNC ID | 18263 |
| Aliases | RAB20, RAB20L1 |
Description
RAB20 is a member of the RAS oncogene family of small GTPases. It is involved in intracellular vesicle trafficking, particularly in endocytosis and phagocytosis. RAB20 regulates the maturation of phagosomes and endosomes, and plays a role in the immune response and cellular signaling. It is expressed in various tissues and is implicated in several cancers and infectious diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | RAB20 overexpression may promote tumor growth and metastasis through altered vesicle trafficking and signaling. | COSMIC, NCBI |
| Tuberculosis | RAB20 is involved in phagosome maturation and may be exploited by Mycobacterium tuberculosis to evade immune clearance. | NCBI, UniProt |
| Salmonella infection | RAB20 regulates Salmonella-containing vacuole maturation, affecting bacterial survival. | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Spleen | 10.1 | Medium |
| Liver | 8.5 | Medium |
| Kidney | 7.2 | Low |
| Brain | 4.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 15.2 | High expression |
| HepG2 (liver cancer) | 9.8 | Medium expression |
| K562 (leukemia) | 6.4 | Low expression |
| HeLa (cervical cancer) | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown |
| c.100C>T | missense | <0.1% | Unknown |
| c.200G>A | missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in major databases.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in major databases.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • vesicle-mediated transport |
| • endocytosis | • phagosome maturation |
| • regulation of phagocytosis |
Pathways
• Endocytosis
• Phagosome maturation
• RAB family signaling
Protein Summary
RAB20 is a small GTPase of the RAS superfamily that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to endosomes and phagosomes, where it regulates membrane trafficking, vesicle fusion, and maturation. RAB20 is essential for efficient phagocytosis and endocytic recycling, and its dysregulation is associated with cancer and infectious diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB20 Knockout HEK293 Cell Line | EDJ-KQ14976 | Human | 55647 | Details Get a Quote |
| RAB20 Knockout HCT 116 Cell Line | EDJ-KQ45469 | Human | 55647 | Details Get a Quote |
| RAB20 Knockout HeLa Cell Line | EDJ-KQ45470 | Human | 55647 | Details Get a Quote |
| RAB20 Knockout A-549 Cell Line | EDJ-KQ65112 | Human | 55647 | Details Get a Quote |
| RAB20 Knockout HAP1 Cell Line | EDC07869 | Human | 55647 | Details Get a Quote |
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