BORCS7
BLOC-1 Related Complex Subunit 7
Gene Information Card
| Symbol | BORCS7 |
|---|---|
| Full Name | BLOC-1 Related Complex Subunit 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000204310 |
| UniProt ID | A6NKD9 |
| OMIM ID | 619074 |
| HGNC ID | 37207 |
| Aliases | MEF2BNB-MEF2B, MEF2BNB |
Description
BORCS7 encodes a subunit of the BLOC-1-related complex (BORC), which is involved in lysosome positioning and transport. The protein localizes to lysosomes and regulates their movement along microtubules.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 5.1 | Low |
| Lung | 3.4 | Low |
| Liver | 2.0 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.5 | Moderate expression |
| HeLa | 4.8 | Low expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • lysosome localization | • protein-containing complex |
| • cytoplasm |
Pathways
• Lysosome positioning (BORC complex)
Protein Summary
BORCS7 is a 107-amino acid protein that forms part of the BORC complex. It is predicted to be involved in lysosomal trafficking and cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BORCS7 Knockout HEK293 Cell Line | EDJ-KQ7636 | Human | 119032 | Details Get a Quote |
| BORCS7 Knockout A-549 Cell Line | EDJ-KQ32991 | Human | 119032 | Details Get a Quote |
| BORCS7 Knockout HeLa Cell Line | EDJ-KQ32993 | Human | 119032 | Details Get a Quote |
| BORCS7 Knockout HCT 116 Cell Line | EDJ-KQ31653 | Human | 119032 | Details Get a Quote |
