RAB4B, Member RAS Oncogene Family
A small GTPase involved in endocytic recycling and vesicular trafficking
Gene Information Card
| Symbol | RAB4B |
|---|---|
| Full Name | RAB4B, Member RAS Oncogene Family |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 53916 ncbi.nlm.nih.gov/gene/53916 |
| Ensembl ID | ENSG00000167578 |
| UniProt ID | P20339 |
| OMIM ID | 612692 |
| HGNC ID | 9770 |
| Aliases | RAB4, RAB4B, member RAS oncogene family |
Description
RAB4B is a member of the RAS oncogene family of small GTPases. It functions as a molecular switch in intracellular vesicle trafficking, specifically regulating endocytic recycling from early endosomes back to the plasma membrane. The protein cycles between an active GTP-bound and inactive GDP-bound state, controlling membrane identity and cargo sorting.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RAB4B expression may disrupt endocytic recycling of growth factor receptors, contributing to oncogenic signaling. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodegenerative disorders | Dysregulation of endosomal trafficking linked to RAB4B may affect neuronal function. | Limited evidence; studies in model organisms suggest involvement. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Spleen | 18.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cell line |
| A549 | 9.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101A>G (p.Gln34Arg) | Missense | <0.1% | Unknown functional impact |
| c.205C>T (p.Arg69Trp) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential disruption of GTP binding or hydrolysis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • endocytic recycling |
| • early endosome membrane |
Pathways
• Endocytosis
• RAB regulation of trafficking
Protein Summary
RAB4B is a 213-amino-acid small GTPase that localizes to early endosomes and recycling endosomes. It regulates the rapid recycling of internalized receptors and lipids back to the plasma membrane, influencing cell signaling and membrane homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB4B Knockout HEK293 Cell Line | EDJ-KQ10685 | Human | 53916 | Details Get a Quote |
| RAB4B Knockout A-549 Cell Line | EDJ-KQ39552 | Human | 53916 | Details Get a Quote |
| RAB4B Knockout HCT 116 Cell Line | EDJ-KQ39554 | Human | 53916 | Details Get a Quote |
| RAB4B Knockout HeLa Cell Line | EDJ-KQ39555 | Human | 53916 | Details Get a Quote |
