RAB5B
Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB5B |
|---|---|
| Full Name | RAB5B, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 5869 ncbi.nlm.nih.gov/gene/5869 |
| Ensembl ID | ENSG00000111540 |
| UniProt ID | P61020 |
| OMIM ID | 179514 |
| HGNC ID | 9785 |
| Aliases | RAB5L |
Description
RAB5B is a member of the RAS oncogene family of small GTPases. It localizes to early endosomes and regulates early endocytic trafficking, including vesicle fusion, motility, and signaling. RAB5B is involved in cell growth, differentiation, and membrane receptor recycling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RAB5B expression may affect endocytic trafficking of growth factor receptors, promoting oncogenic signaling. | NCBI Gene, COSMIC |
| Neurodegenerative disorders | Dysregulation of endosomal trafficking via RAB5B contributes to neuronal dysfunction. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| A549 | 11.2 | Lung cancer cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G | missense | <0.1% | p.Ile41Val; likely benign |
| c.456C>T | missense | <0.1% | p.Thr152Met; uncertain significance |
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.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • early endosome membrane | • endocytosis |
| • intracellular protein transport |
Pathways
• Endocytosis (KEGG hsa04144)
• RAB5-mediated endosomal trafficking (Reactome R-HSA-8876198)
Protein Summary
RAB5B is a small GTPase that cycles between an active GTP-bound and inactive GDP-bound state. It regulates early endosome fusion and endocytic trafficking. The protein is ubiquitously expressed and plays roles in cell signaling, receptor recycling, and membrane dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB5B Knockout HEK293 Cell Line | EDJ-KQ1283 | Human | 5869 | Details Get a Quote |
| RAB5B Knockout A-549 Cell Line | EDJ-KQ20682 | Human | 5869 | Details Get a Quote |
| RAB5B Knockout HCT 116 Cell Line | EDJ-KQ20683 | Human | 5869 | Details Get a Quote |
| RAB5B Knockout HeLa Cell Line | EDJ-KQ20684 | Human | 5869 | Details Get a Quote |
