RAB11B
Member RAS Oncogene Family; Key Regulator of Endocytic Recycling
Gene Information Card
| Symbol | RAB11B |
|---|---|
| Full Name | RAB11B, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 9230 ncbi.nlm.nih.gov/gene/9230 |
| Ensembl ID | ENSG00000185236 |
| UniProt ID | Q15907 |
| OMIM ID | 605598 |
| HGNC ID | 9761 |
| Aliases | H-RAB11B, RAB11B, member RAS oncogene family |
Description
RAB11B encodes a small GTPase of the RAS superfamily that regulates endocytic recycling, vesicle trafficking, and cytokinesis. It is involved in the recycling of internalized receptors and lipids back to the plasma membrane.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 11 | De novo missense mutations impair GTPase activity and disrupt vesicle trafficking | ClinVar; OMIM #605598 |
| Intellectual disability | Loss-of-function variants affect neuronal endosomal recycling | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Lung | 8.5 | Medium |
| Liver | 6.1 | Medium |
| Kidney | 7.3 | Medium |
| Heart | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 10.1 | High expression |
| SH-SY5Y | 14.8 | Very high expression |
| HepG2 | 7.6 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.29G>A (p.Arg10Gln) | Missense | 0.001% | Impaired GTP binding and recycling |
| c.67C>T (p.Arg23Trp) | Missense | 0.0005% | Dominant-negative effect on endosomal trafficking |
| c.112A>G (p.Lys38Glu) | Missense | 0.0002% | Loss of function; reduced GTPase activity |
Mutation functional classification
Loss of Function (LOF)
Missense variants that reduce GTP binding or hydrolysis, impairing vesicle recycling.
Gain of Function (GOF)
Not reported for RAB11B.
Dominant Negative (DN)
Variants such as p.Arg23Trp that interfere with wild-type RAB11B function.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • endocytic recycling |
| • vesicle-mediated transport |
Pathways
• Endocytic recycling (Reactome: R-HSA-432722)
• Rab regulation of trafficking (Reactome: R-HSA-9007101)
Protein Summary
RAB11B is a 218-amino-acid small GTPase that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to recycling endosomes and the plasma membrane, controlling the return of internalized cargo. Mutations are linked to early infantile epileptic encephalopathy and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB11B Knockout HEK293 Cell Line | EDJ-KQ1882 | Human | 9230 | Details Get a Quote |
| RAB11B Knockout HeLa Cell Line | EDJ-KQ20473 | Human | 9230 | Details Get a Quote |
| RAB11B Knockout A-549 Cell Line | EDJ-KQ21777 | Human | 9230 | Details Get a Quote |
| RAB11B Knockout HCT 116 Cell Line | EDJ-KQ21778 | Human | 9230 | Details Get a Quote |
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