RAB6B
RAB6B, member RAS oncogene family
Gene Information Card
| Symbol | RAB6B |
|---|---|
| Full Name | RAB6B, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 51560 ncbi.nlm.nih.gov/gene/51560 |
| Ensembl ID | ENSG00000114019 |
| UniProt ID | Q9NRW1 |
| OMIM ID | 615852 |
| HGNC ID | 14906 |
| Aliases | RAB6B, RAB6B_HUMAN |
Description
RAB6B is a member of the RAS oncogene family of small GTPases. It is involved in intracellular vesicle trafficking, particularly in the retrograde transport from endosomes to the Golgi apparatus and from the Golgi to the endoplasmic reticulum. RAB6B is highly expressed in the brain and plays a role in neuronal development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Mutations in RAB6B may disrupt vesicle trafficking in neurons, impairing synaptic function and cognitive development. | ClinVar: pathogenic variants reported in patients with intellectual disability. |
| Microcephaly | Loss-of-function mutations in RAB6B are associated with reduced brain size, likely due to defective neuronal migration or proliferation. | OMIM: 615852; case studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 4.2 | Medium |
| Lung | 2.1 | Low |
| Liver | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; relevant for neuronal studies |
| HeLa (cervical carcinoma) | 3.8 | Moderate expression |
| HEK293 (embryonic kidney) | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70Cys) | Missense | 0.001% (gnomAD) | Likely loss of function; disrupts GTP binding |
| c.341G>A (p.Arg114His) | Missense | 0.0005% (gnomAD) | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the GTP-binding domain (e.g., p.Arg70Cys) impair GTP hydrolysis and vesicle trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • intracellular protein transport (GO:0006886) | • Golgi to ER (GO:0006890) |
| • Golgi to endosome transport (GO:0006895) |
Pathways
• RAB6B-mediated retrograde transport from endosomes to Golgi
• RAB6B in Golgi-to-ER transport
Protein Summary
RAB6B is a 208-amino acid small GTPase that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to the Golgi apparatus and endosomes, regulating membrane trafficking. In neurons, RAB6B is essential for dendritic and axonal transport. Mutations in RAB6B are linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB6B Knockout HEK293 Cell Line | EDJ-KQ2214 | Human | 51560 | Details Get a Quote |
| RAB6B Knockout A-549 Cell Line | EDJ-KQ21166 | Human | 51560 | Details Get a Quote |
| RAB6B Knockout HCT 116 Cell Line | EDJ-KQ22475 | Human | 51560 | Details Get a Quote |
| RAB6B Knockout HeLa Cell Line | EDJ-KQ22476 | Human | 51560 | Details Get a Quote |
