RAB7B
RAB7B, Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB7B |
|---|---|
| Full Name | RAB7B, Member RAS Oncogene Family |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 338382 ncbi.nlm.nih.gov/gene/338382 |
| Ensembl ID | ENSG00000142611 |
| UniProt ID | Q96AH8 |
| OMIM ID | 612564 |
| HGNC ID | 20296 |
| Aliases | RAB7L1 |
Description
RAB7B is a member of the RAS oncogene family of small GTPases. It functions in intracellular membrane trafficking, particularly in the endocytic and autophagic pathways. RAB7B regulates late endosomal and lysosomal transport, and is implicated in vesicle fusion and maturation. The gene is located on chromosome 1q32.1 and encodes a 199-amino-acid protein.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 2B | Impaired endosomal trafficking due to RAB7B dysfunction | Limited evidence; RAB7B mutations are rare in CMT2B, but functional studies suggest involvement |
| Hereditary sensory neuropathy type I | Altered vesicle transport in sensory neurons | Indirect evidence from RAB7A paralog studies; RAB7B role not fully established |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.4 | Embryonic kidney cells |
| HeLa | 7.2 | Cervical cancer cells |
| SH-SY5Y | 11.0 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Thr72Ile) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.389A>G (p.Asn130Ser) | Missense | 0.005% (gnomAD) | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RAB7B.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RAB7B.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in RAB7B.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • endosome to lysosome transport |
| • autophagosome maturation |
Pathways
• Endocytosis
• Autophagy
• RAB7-mediated vesicle trafficking
Protein Summary
RAB7B is a small GTPase that cycles between active GTP-bound and inactive GDP-bound states. It localizes to late endosomes and lysosomes, where it regulates membrane tethering, fusion, and cargo sorting. RAB7B is highly similar to RAB7A but has distinct tissue expression and functional roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB7B Knockout HEK293 Cell Line | EDJ-KQ3637 | Human | 338382 | Details Get a Quote |
| RAB7B Knockout HeLa Cell Line | EDJ-KQ59609 | Human | 338382 | Details Get a Quote |
| RAB7B Knockout A-549 Cell Line | EDJ-KQ68074 | Human | 338382 | Details Get a Quote |
| RAB7B Knockout HCT 116 Cell Line | EDJ-KQ76451 | Human | 338382 | Details Get a Quote |
