BORCS6
BLOC-1 Related Complex Subunit 6
Gene Information Card
| Symbol | BORCS6 |
|---|---|
| Full Name | BLOC-1 Related Complex Subunit 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 84792 ncbi.nlm.nih.gov/gene/84792 |
| Ensembl ID | ENSG00000108423 |
| UniProt ID | Q9BQH1 |
| OMIM ID | 617623 |
| HGNC ID | 25997 |
| Aliases | MEF2BNB, MEF2B-NB, C17orf59, MEF2B-NB-MEF2B |
Description
BORCS6 encodes a subunit of the BLOC-1-related complex (BORC), which is involved in lysosomal positioning and endosomal trafficking. The protein localizes to lysosomes and regulates their movement along microtubules, impacting cellular signaling and metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • lysosomal transport | • endosomal transport |
| • protein-containing complex assembly |
Pathways
• BLOC-1 related complex pathway
• Lysosomal positioning
Protein Summary
BORCS6 is a 164-amino-acid protein that forms part of the BORC complex. It interacts with other subunits to facilitate the recruitment of the small GTPase ARL8B to lysosomes, promoting their anterograde transport to the cell periphery. The protein is ubiquitously expressed with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BORCS6 Knockout HEK293 Cell Line | EDJ-KQ12559 | Human | 54785 | Details Get a Quote |
| BORCS6 Knockout HCT 116 Cell Line | EDJ-KQ40276 | Human | 54785 | Details Get a Quote |
| BORCS6 Knockout A-549 Cell Line | EDJ-KQ41573 | Human | 54785 | Details Get a Quote |
| BORCS6 Knockout HeLa Cell Line | EDJ-KQ41575 | Human | 54785 | Details Get a Quote |
