RAB36: A Member of the RAS Oncogene Family
RAB36 Gene - Function, Expression, and Disease Associations
Gene Information Card
| Symbol | RAB36 |
|---|---|
| Full Name | RAB36, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 9609 ncbi.nlm.nih.gov/gene/9609 |
| Ensembl ID | ENSG00000100228 |
| UniProt ID | O95755 |
| OMIM ID | 605662 |
| HGNC ID | 9775 |
| Aliases | RAB36, member RAS oncogene family |
Description
RAB36 is a protein-coding gene that belongs to the RAB family of small GTPases, which are key regulators of intracellular vesicle trafficking. The encoded protein is involved in the transport of vesicles between the Golgi apparatus and the plasma membrane, and it may play a role in neurite outgrowth and neuronal development. RAB36 is located on chromosome 22q11.21, a region associated with several genetic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Potential involvement in synaptic vesicle trafficking; altered expression observed in postmortem brain studies. | PubMed (PMID: 21389119) |
| Bipolar disorder | Differential expression in prefrontal cortex; may affect neurotransmitter release. | PubMed (PMID: 21389119) |
| 22q11.2 deletion syndrome | Gene lies within the common deletion region; haploinsufficiency may contribute to neurodevelopmental phenotypes. | OMIM #188400 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 4.2 | Medium |
| Testis | 3.8 | Medium |
| Lung | 2.1 | Low |
| Heart | 1.5 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.1 | Neuronal model |
| HeLa (cervical carcinoma) | 2.3 | Epithelial |
| HEK293 (embryonic kidney) | 1.9 | Transformed |
| A549 (lung carcinoma) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146Gln) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.44C>T (p.Thr15Met) | Missense | <0.01% | Unknown; may affect GTP binding |
| c.538_540del (p.Lys180del) | In-frame deletion | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • vesicle-mediated transport |
| • Golgi to plasma membrane transport | • regulation of exocytosis |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Membrane Trafficking (Reactome: R-HSA-199991)
Protein Summary
RAB36 is a small GTPase of the RAB family, characterized by a conserved G domain that binds and hydrolyzes GTP. It cycles between an active GTP-bound and inactive GDP-bound state, regulating vesicle docking and fusion. The protein is predominantly expressed in brain and testis, and its subcellular localization includes the Golgi apparatus and recycling endosomes. RAB36 interacts with effectors such as JIP3/JIP4 to mediate cargo transport along microtubules.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB36 Knockout HEK293 Cell Line | EDJ-KQ6657 | Human | 9609 | Details Get a Quote |
| RAB36 Knockout HCT 116 Cell Line | EDJ-KQ30953 | Human | 9609 | Details Get a Quote |
| RAB36 Knockout A-549 Cell Line | EDJ-KQ29598 | Human | 9609 | Details Get a Quote |
| RAB36 Knockout HeLa Cell Line | EDJ-KQ55206 | Human | 9609 | Details Get a Quote |
