RAB2A: A Key Regulator of Vesicular Trafficking and Autophagy
Comprehensive genomic and functional analysis of the RAB2A gene, a member of the RAS oncogene family involved in intracellular membrane transport.
Gene Information Card
| Symbol | RAB2A |
|---|---|
| Full Name | RAB2A, member RAS oncogene family |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 5862 ncbi.nlm.nih.gov/gene/5862 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | P61019 |
| OMIM ID | 601509 |
| HGNC ID | 9763 |
| Aliases | RAB2, RAB2A_HUMAN |
Description
RAB2A is a member of the RAS oncogene family of small GTPases that regulate vesicle trafficking, specifically the transport between the endoplasmic reticulum (ER) and the Golgi apparatus. It cycles between an active GTP-bound form and an inactive GDP-bound form, controlling membrane docking and fusion. RAB2A is also implicated in autophagy, cell proliferation, and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RAB2A expression and mutations may disrupt vesicular transport and autophagy, promoting tumor growth and metastasis. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodegenerative disorders | Dysregulation of RAB2A-mediated trafficking may contribute to protein aggregation and neuronal dysfunction. | Limited evidence; studies suggest links to autophagy defects. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain | 12.8 | Medium |
| Breast | 6.1 | Low |
| Colon | 9.5 | Medium |
| Kidney | 15.3 | Medium |
| Liver | 18.7 | Medium |
| Lung | 14.2 | Medium |
| Pancreas | 11.0 | Medium |
| Prostate | 7.8 | Low |
| Skin | 4.9 | Low |
| Spleen | 8.3 | Low |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 16.5 | Cervical cancer cell line |
| A549 | 14.8 | Lung cancer cell line |
| HEK293 | 12.3 | Embryonic kidney cells |
| MCF7 | 9.7 | Breast cancer cell line |
| HepG2 | 18.2 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly75Val | Missense | 0.02% (COSMIC) | Alters GTP-binding; potential gain-of-function |
| p.Arg80Trp | Missense | 0.01% (COSMIC) | May affect nucleotide exchange |
| p.Val119Met | Missense | 0.01% (COSMIC) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
p.Gly75Val may enhance GTP binding and signaling.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein transport | • intracellular protein transport |
| • ER to Golgi vesicle-mediated transport | • autophagy |
| • regulation of cell proliferation |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Autophagy (KEGG: hsa04140)
• RAB2A regulates vesicle trafficking between ER and Golgi (UniProt)
Protein Summary
RAB2A is a 212-amino-acid small GTPase (23.6 kDa) that localizes to the Golgi apparatus and vesicular structures. It contains conserved GTP-binding domains and a C-terminal prenylation motif for membrane attachment. The protein cycles between active GTP-bound and inactive GDP-bound states, regulated by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). RAB2A is essential for retrograde transport from the Golgi to the ER and plays a role in autophagosome formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB2A Knockout HEK293 Cell Line | EDJ-KQ1880 | Human | 5862 | Details Get a Quote |
| RAB2A Knockout A-549 Cell Line | EDJ-KQ21767 | Human | 5862 | Details Get a Quote |
| RAB2A Knockout HCT 116 Cell Line | EDJ-KQ21768 | Human | 5862 | Details Get a Quote |
| RAB2A Knockout HeLa Cell Line | EDJ-KQ21769 | Human | 5862 | Details Get a Quote |
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