ARL8B (ADP Ribosylation Factor Like GTPase 8B)
A small GTPase involved in lysosomal positioning, exocytosis, and immune synapse formation.
Gene Information Card
| Symbol | ARL8B |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 8B |
| Gene Type | protein-coding |
| Chromosomal Location | 3p26.2 |
| NCBI Gene ID | 55207 ncbi.nlm.nih.gov/gene/55207 |
| Ensembl ID | ENSG00000114520 |
| UniProt ID | Q9NVJ2 |
| OMIM ID | 616596 |
| HGNC ID | 24039 |
| Aliases | ARL10C, Gie1, GTRAP3-18 |
Description
ARL8B encodes a member of the ARF-like family of small GTPases. The protein localizes to lysosomes and regulates lysosomal motility, positioning, and fusion with the plasma membrane. It is essential for processes such as antigen presentation, phagosome resolution, and exosome release. ARL8B also plays a role in neurite outgrowth and synaptic vesicle recycling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered lysosomal trafficking may promote tumor invasion and metastasis | COSMIC; literature |
| Neurodegenerative disorders | Impaired lysosomal positioning affects autophagy and neuronal survival | UniProt; literature |
| Immunodeficiency | Defective antigen presentation due to disrupted lysosomal exocytosis | Literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 14.2 | Medium |
| Lung | 9.8 | Low |
| Liver | 11.5 | Medium |
| Kidney | 12.1 | Medium |
| Testis | 16.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| HEK293 | 12.8 | Moderate expression |
| SH-SY5Y | 18.1 | High expression |
| HepG2 | 10.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215G>A (p.Arg72His) | Missense | <0.01% | Unknown functional impact |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Potential loss of GTP binding |
| c.602_603insA | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of GTPase activity.
Gain of Function (GOF)
Not well documented; activating mutations may enhance lysosomal exocytosis.
Dominant Negative (DN)
Missense mutations in the GTP-binding domain may interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Lysosome
• Endocytosis
• Autophagy
• RHO GTPase cycle
Protein Summary
ARL8B is a 186-amino-acid small GTPase that cycles between an active GTP-bound and inactive GDP-bound state. It localizes primarily to lysosomes and late endosomes, where it recruits effectors such as SKIP (PLEKHM2) and HOPS complex to mediate microtubule-dependent lysosomal movement. ARL8B is critical for lysosomal exocytosis, cell migration, and neurite outgrowth. Its dysregulation is implicated in cancer metastasis and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL8B Knockout HEK293 Cell Line | EDJ-KQ12426 | Human | 55207 | Details Get a Quote |
| ARL8B Knockout A-549 Cell Line | EDJ-KQ40051 | Human | 55207 | Details Get a Quote |
| ARL8B Knockout HCT 116 Cell Line | EDJ-KQ41340 | Human | 55207 | Details Get a Quote |
| ARL8B Knockout HeLa Cell Line | EDJ-KQ41341 | Human | 55207 | Details Get a Quote |
