| Name | BLOC-1 related complex subunit 7 |
| Description | Predicted to be involved in organelle transport along microtubule; regulation of endosome size; and regulation of lysosome size. Predicted to act upstream of or within several processes, including lysosome localization; motor behavior; and response to cycloheximide. Part of BORC complex. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n BORCS7 is an essential subunit of the multi‐protein BORC complex that regulates lysosome positioning and transport. By contributing to the recruitment of the small GTPase Arl8 onto lysosomal membranes, BORCS7 helps link lysosomes to kinesin motors and thereby facilitates their outward (centrifugal) transport along distinct microtubule tracks. This mechanism is critical not only for the proper spatial distribution of lysosomes within the cytoplasm but also for supporting specialized functions in neurons. Indeed, studies in cultured cells and in animal models demonstrate that disruption of BORCS7 results in impaired lysosome dispersal and defective axonal transport, ultimately causing progressive axonal dystrophy, motor dysfunction, and perinatal lethality. In addition, genetic studies in humans have associated increased BORCS7 expression with risk alleles linked to psychiatric disorders such as schizophrenia, implying that alterations in BORCS7-mediated lysosomal dynamics may also impact neurodevelopment and brain function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Carlos M Guardia, Ginny G Farías, Rui Jia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BORC Functions Upstream of Kinesins 1 and 3 to Coordinate Regional Movement of Lysosomes along Different Microtubule Tracks."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2016.10.062"}], "href": "https://doi.org/10.1016/j.celrep.2016.10.062"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27851960"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27851960"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ming Li, Andrew E Jaffe, Richard E Straub, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm.4096"}], "href": "https://doi.org/10.1038/nm.4096"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27158905"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27158905"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "John N Snouwaert, Rachel J Church, Leigh Jania, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Mutation in the Borcs7 Subunit of the Lysosome Regulatory BORC Complex Results in Motor Deficits and Dystrophic Axonopathy in Mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2018.06.118"}], "href": "https://doi.org/10.1016/j.celrep.2018.06.118"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30067980"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30067980"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Urjita Joshi, Joseline A Houwman, Peter van der Sluijs "}, {"type": "b", "children": [{"type": "t", "text": "Lysosomes nor Mice Move Forward without Borcs7."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Trends Cell Biol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.tcb.2018.08.002"}], "href": "https://doi.org/10.1016/j.tcb.2018.08.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30185380"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30185380"}]}]}]}
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| NCBI Gene ID | 119032 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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BORCS7 has 1,449 functional associations with biological entities spanning 6 categories (functional term, phrase or reference, chemical, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 36 datasets.
Click the + buttons to view associations for BORCS7 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of BORCS7 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with BORCS7 protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with BORCS7 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of BORCS7 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of BORCS7 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing BORCS7 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with BORCS7 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of BORCS7 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by BORCS7 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with BORCS7 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with BORCS7 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with BORCS7 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with BORCS7 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving BORCS7 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving BORCS7 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing BORCS7 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing BORCS7 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of BORCS7 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of BORCS7 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of BORCS7 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with BORCS7 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of BORCS7 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of BORCS7 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by BORCS7 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of BORCS7 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of BORCS7 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of BORCS7 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of BORCS7 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of BORCS7 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of BORCS7 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of BORCS7 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of BORCS7 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of BORCS7 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of BORCS7 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of BORCS7 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with BORCS7 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
