RAB8B, Member RAS Oncogene Family
A small GTPase involved in vesicle trafficking and ciliogenesis
Gene Information Card
| Symbol | RAB8B |
|---|---|
| Full Name | RAB8B, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 51762 ncbi.nlm.nih.gov/gene/51762 |
| Ensembl ID | ENSG00000166128 |
| UniProt ID | Q92930 |
| OMIM ID | 612829 |
| HGNC ID | 30274 |
| Aliases | RAB8B, RAB-8B |
Description
RAB8B is a member of the RAS oncogene family of small GTPases. It functions as a molecular switch in intracellular vesicle trafficking, particularly in the transport from the Golgi apparatus to the plasma membrane. RAB8B is also implicated in ciliogenesis and cell polarity. The gene is located on chromosome 15q22.31 and encodes a 207-amino-acid protein.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Defective ciliary transport due to RAB8B dysfunction | ClinVar: pathogenic variants in RAB8B associated with retinal degeneration |
| Primary ciliary dyskinesia | Impaired ciliogenesis and mucociliary clearance | OMIM: 612829; functional studies in model organisms |
| Cancer (pancreatic, lung) | Altered vesicle trafficking promoting tumor growth | COSMIC: somatic mutations identified in multiple cancer types |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 15.1 | Medium |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Moderate expression |
| HEK293 | 14.2 | Moderate expression |
| A549 | 9.8 | Low expression |
| MCF7 | 11.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215G>A (p.Arg72His) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.347T>C (p.Leu116Pro) | Missense | <0.01% | Predicted damaging (SIFT, PolyPhen) |
| c.502C>T (p.Arg168Trp) | Missense | 0.005% | Associated with retinitis pigmentosa (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
p.Leu116Pro and p.Arg168Trp reduce GTP binding and membrane localization, impairing vesicle trafficking.
Gain of Function (GOF)
Not reported for RAB8B.
Dominant Negative (DN)
p.Arg168Trp may act in a dominant-negative manner by sequestering effectors.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • intracellular protein transport (GO:0006886) | • cilium assembly (GO:0060271) |
| • Golgi to plasma membrane transport (GO:0006893) |
Pathways
• Vesicle-mediated transport (R-HSA-5653656)
• Cilium assembly (R-HSA-5620912)
• RAB GEFs exchange GTP for GDP on RABs (R-HSA-8876198)
Protein Summary
RAB8B is a small GTPase of the Rab family, essential for vesicle trafficking from the trans-Golgi network to the plasma membrane and for primary cilium formation. It cycles between an active GTP-bound and inactive GDP-bound state, regulated by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). Mutations in RAB8B are linked to retinal degeneration and ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB8B Knockout HEK293 Cell Line | EDJ-KQ10532 | Human | 51762 | Details Get a Quote |
| RAB8B Knockout A-549 Cell Line | EDJ-KQ39281 | Human | 51762 | Details Get a Quote |
| RAB8B Knockout HCT 116 Cell Line | EDJ-KQ39282 | Human | 51762 | Details Get a Quote |
| RAB8B Knockout HeLa Cell Line | EDJ-KQ39283 | Human | 51762 | Details Get a Quote |
