RAB3B
RAB3B, Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB3B |
|---|---|
| Full Name | RAB3B, Member RAS Oncogene Family |
| Gene Type | protein-coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 5865 ncbi.nlm.nih.gov/gene/5865 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | P20337 |
| OMIM ID | 179510 |
| HGNC ID | 9777 |
| Aliases | RAB3B, member RAS oncogene family |
Description
RAB3B is a member of the RAS oncogene family of small GTPases. It is involved in the regulation of vesicle trafficking, particularly in exocytosis and neurotransmitter release. The protein cycles between an active GTP-bound and inactive GDP-bound state, and is implicated in cellular processes such as secretion, cell adhesion, and signal transduction. RAB3B is expressed in various tissues, with high levels in the brain and endocrine cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RAB3B expression may affect vesicle trafficking and cell signaling, contributing to tumorigenesis. | COSMIC, NCBI |
| Neuroendocrine tumors | RAB3B is involved in hormone secretion; dysregulation may promote neuroendocrine tumor development. | NCBI, PubMed |
| Intellectual disability | Rare variants in RAB3B have been associated with neurodevelopmental phenotypes. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Pituitary | 12.8 | High |
| Adrenal gland | 8.5 | Medium |
| Pancreas | 6.3 | Medium |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 18.5 | Neuroblastoma cell line |
| HeLa | 7.2 | Cervical cancer cell line |
| HEK293 | 5.8 | Embryonic kidney cell line |
| MCF7 | 3.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Cys) | Missense | <0.1% | Altered GTP binding; potential loss of function |
| c.485G>A (p.Arg162Gln) | Missense | <0.1% | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting GTP binding or start codon are predicted to reduce or abolish RAB3B activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may interfere with wild-type RAB3B function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • vesicle-mediated transport | • exocytosis |
| • intracellular protein transport | • regulation of neurotransmitter secretion |
Pathways
• RAB3B is involved in vesicle trafficking pathways
• including synaptic vesicle cycle and regulated exocytosis.
Protein Summary
RAB3B is a small GTPase of the RAS superfamily that regulates vesicle docking and fusion. It is highly expressed in brain and endocrine tissues, where it controls secretion of neurotransmitters and hormones. The protein cycles between active GTP-bound and inactive GDP-bound states, and its activity is modulated by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB3B Knockout HEK293 Cell Line | EDJ-KQ5624 | Human | 5865 | Details Get a Quote |
| RAB3B Knockout A-549 Cell Line | EDJ-KQ28935 | Human | 5865 | Details Get a Quote |
| RAB3B Knockout HeLa Cell Line | EDJ-KQ28937 | Human | 5865 | Details Get a Quote |
| RAB3B Knockout HCT 116 Cell Line | EDJ-KQ27672 | Human | 5865 | Details Get a Quote |
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