RAB33B
RAB33B, Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB33B |
|---|---|
| Full Name | RAB33B, Member RAS Oncogene Family |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.1 |
| NCBI Gene ID | 83452 ncbi.nlm.nih.gov/gene/83452 |
| Ensembl ID | ENSG00000138698 |
| UniProt ID | Q9H082 |
| OMIM ID | 605950 |
| HGNC ID | 9775 |
| Aliases | RAB33B, SMC2, RAB33B protein |
Description
RAB33B is a member of the RAS oncogene family of small GTPases. It is involved in intracellular vesicle trafficking, particularly in the regulation of autophagy and Golgi-to-ER transport. RAB33B cycles between an active GTP-bound and inactive GDP-bound state, acting as a molecular switch. Mutations in RAB33B are associated with developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Smith-McCort Dysplasia 2 | Loss-of-function mutations in RAB33B impair Golgi trafficking and bone development | OMIM #615222 |
| Autosomal Recessive Intellectual Disability | Homozygous missense variants disrupt GTPase activity | ClinVar |
| Cancer (various) | Altered RAB33B expression and mutations may affect autophagy and tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Low |
| Lung | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
| Testis | 12.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 9.8 | Low expression |
| A549 | 11.2 | Low expression |
| K562 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.433C>T (p.Arg145Cys) | Missense | Rare | Impaired GTP binding and loss of function |
| c.208G>A (p.Glu70Lys) | Missense | Rare | Reduced GTPase activity |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg145Cys, p.Glu70Lys) impair GTP binding or hydrolysis, leading to loss of normal RAB33B function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by sequestering effectors, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • autophagy |
| • Golgi organization | • ER to Golgi vesicle-mediated transport |
Pathways
• Autophagy
• Endocytosis
• RAB regulation of trafficking
Protein Summary
RAB33B is a small GTPase of the RAS superfamily that regulates membrane trafficking between the Golgi apparatus and endoplasmic reticulum, and plays a role in autophagy. It is ubiquitously expressed with higher levels in testis and brain. Mutations cause Smith-McCort Dysplasia 2 and are implicated in intellectual disability and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB33B Knockout HEK293 Cell Line | EDJ-KQ2042 | Human | 83452 | Details Get a Quote |
| RAB33B Knockout A-549 Cell Line | EDJ-KQ22086 | Human | 83452 | Details Get a Quote |
| RAB33B Knockout HCT 116 Cell Line | EDJ-KQ22087 | Human | 83452 | Details Get a Quote |
| RAB33B Knockout HeLa Cell Line | EDJ-KQ20792 | Human | 83452 | Details Get a Quote |
