BORCS8
BLOC-1 Related Complex Subunit 8
Gene Information Card
| Symbol | BORCS8 |
|---|---|
| Full Name | BLOC-1 Related Complex Subunit 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 222255 ncbi.nlm.nih.gov/gene/222255 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | Q8N6M6 |
| OMIM ID | 619189 |
| HGNC ID | 28377 |
| Aliases | MEF2BNB, MEF2B-NB, C19orf60 |
Description
BORCS8 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 reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Low expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | 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 membrane | • protein-containing complex |
| • microtubule binding | • lysosomal transport |
Pathways
• Lysosome
• Endosomal trafficking
Protein Summary
BORCS8 is a 150-amino-acid protein that forms part of the BORC complex. It is anchored to the lysosomal membrane and interacts with ARL8B to recruit kinesin motors, facilitating lysosomal movement toward the cell periphery. This process is critical for nutrient sensing and autophagy regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BORCS8-MEF2B Knockout HEK293 Cell Line | EDJ-KQ1460 | Human | 4207 | Details Get a Quote |
| BORCS8 Knockout HEK293 Cell Line | EDJ-KQ12560 | Human | 729991 | Details Get a Quote |
| BORCS8-MEF2B Knockout A-549 Cell Line | EDJ-KQ21022 | Human | 4207 | Details Get a Quote |
| BORCS8-MEF2B Knockout HCT 116 Cell Line | EDJ-KQ21023 | Human | 4207 | Details Get a Quote |
| BORCS8 Knockout A-549 Cell Line | EDJ-KQ41576 | Human | 729991 | Details Get a Quote |
| BORCS8 Knockout HCT 116 Cell Line | EDJ-KQ41577 | Human | 729991 | Details Get a Quote |
| BORCS8 Knockout HeLa Cell Line | EDJ-KQ41578 | Human | 729991 | Details Get a Quote |
| BORCS8-MEF2B Knockout HeLa Cell Line | EDJ-KQ77869 | Human | 4207 | Details Get a Quote |
