HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
8 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BORCS5
BLOC-1 related complex subunit 5
Chromosome 12 Β· 12p13.2
NCBI Gene: 118426Ensembl: ENSG00000165714.11HGNC: HGNC:17950UniProt: G3V1P3
30PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmic side of lysosomal membranemembraneBORC complexorganelle transport along microtubuleatrial fibrillationcolorectal canceracneAlzheimer disease
✦AI Summary

BORCS5 (BLOC-1 related complex subunit 5) is a core structural component of the hetero-octameric BORC complex, which regulates lysosomal positioning and transport 1. As part of BORC, BORCS5 associates with the cytosolic face of lysosomes and mediates recruitment of the small GTPase ARL8, coupling lysosomes to kinesin-1 motors for anterograde microtubule-dependent transport toward the cell periphery 2. This positioning is critical for cell motility and autophagy regulation, as demonstrated by BORC's role in suppressing lysosomal delivery to pathogen-containing phagosomes 3. BORCS5 loss-of-function variants cause severe neurological disease, including prenatally lethal arthrogryposis multiplex congenita with neuroaxonal dystrophy 24. Missense variants present with microcephaly, developmental epileptic encephalopathy, and progressive neurodegeneration with hypomyelination 2. Both variant types impair lysosomal proteolysis and hydrolase activity, indicating BORCS5's novel role in regulating lysosomal function beyond transport 2. Genome-wide association studies identify BORCS5 as a genetic susceptibility locus for acute respiratory distress syndrome, with expression dynamically downregulated during disease development 5. Additionally, BORCS5 dysfunction occurs in cancer pathogenesis through fusion oncogenes, where disruption of BORCS5 promotes tumor progression 67.

Sources cited
1
BORCS5 encodes a BORC subunit mediating kinesin-dependent lysosomal anterograde movement; bi-allelic variants cause arthrogryposis multiplex congenita, neuroaxonal dystrophy, and in missense cases, microcephaly, developmental epileptic encephalopathy, and progressive neurodegeneration; both loss-of-function and missense variants impair lysosomal proteolysis and hydrolase activity
PMID: 40385417
2
BORC forms a hetero-octameric structure; BORCS5 is part of a hemicomplex scaffold (BORCS2/3/5/7); ARL8 association is primarily mediated by BORCS5 and requires proper BORC assembly
PMID: 39740668
3
BORCS5 expression at rs7967111 locus is associated with ARDS susceptibility in Europeans; BORCS5 expression is dynamically decreased during ARDS development and downregulated in immune cells with COVID-19 severity
PMID: 34032881
4
BORCS5 and Kinesin-1 function in lysosome positioning toward the cell periphery; depletion of BORCS5 reverts autophagy avoidance and increases lysosomal delivery to phagosomes
PMID: 36717601
5
LMO3-BORCS5 fusion oncogene in Ewing sarcoma acts as a driver of tumor progression; BORCS5 likely functions as a tumor suppressor gene
PMID: 31488873
6
Homozygous nonsense BORCS5 variant causes neuroaxonal dystrophy with osteopetrosis, cerebral ventriculomegaly, and corpus callosum agenesis
PMID: 40621786
7
BORCS5-ETV6 fusion gene identified in scirrhous-type gastric cancer possesses oncogenic activity and partially inhibits cell growth when suppressed
PMID: 31222839
Disease Associationsβ“˜20
atrial fibrillationOpen Targets
0.28Weak
colorectal cancerOpen Targets
0.28Weak
acneOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.27Weak
hypothyroidismOpen Targets
0.27Weak
microcephalyOpen Targets
0.26Weak
Global developmental delayOpen Targets
0.26Weak
polymicrogyriaOpen Targets
0.26Weak
Abnormal cerebral cortex morphologyOpen Targets
0.26Weak
Agenesis of corpus callosumOpen Targets
0.26Weak
SeizureOpen Targets
0.26Weak
hypertensionOpen Targets
0.10Weak
asthmaOpen Targets
0.10Weak
essential hypertensionOpen Targets
0.07Suggestive
familial primary pulmonary hypoplasiaOpen Targets
0.06Suggestive
interstitial lung disease 1Open Targets
0.04Suggestive
Congenital pulmonary alveolar proteinosisOpen Targets
0.04Suggestive
Neonatal acute respiratory distress with surfactant metabolism deficiencyOpen Targets
0.04Suggestive
anemia (phenotype)Open Targets
0.03Suggestive
pelvic organ prolapseOpen Targets
0.03Suggestive
Pathogenic Variants1
NM_058169.6(BORCS5):c.420del (p.Lys141fs)Likely pathogenic
BORCS5-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 141
View on ClinVar β†—
Related Genes
BORCS7Protein interaction100%BORCS6Protein interaction100%BORCS8Protein interaction92%KXD1Protein interaction92%BLOC1S1Protein interaction76%LAMTOR4Protein interaction76%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
73%
Liver
36%
Heart
34%
Lung
31%
Ovary
25%
Gene Interaction Network
Click a node to explore
BORCS5BORCS7BORCS6BORCS8KXD1BLOC1S1LAMTOR4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q969J3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.50–1.10]
RankingsWhere BORCS5 stands among ~20K protein-coding genes
  • #11,863of 20,598
    Most Researched30
  • #5,262of 5,498
    Most Pathogenic Variants1
  • #11,308of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedBORCS5
Sources retrieved8 papers
Response timeβ€”
πŸ“„ Sources
8β–Ό
1
Pathogenic variants in
PMID: 40385417
medRxiv Β· 2025
1.00
2
The structure and assembly of the hetero-octameric BLOC-one-related complex.
PMID: 39740668
Structure Β· 2025
0.88
3
Integrative omics provide biological and clinical insights into acute respiratory distress syndrome.
PMID: 34032881
Intensive Care Med Β· 2021
0.75
4
Newly identified LMO3-BORCS5 fusion oncogene in Ewing sarcoma at relapse is a driver of tumor progression.
PMID: 31488873
Oncogene Β· 2019
0.63
5
BORC assemblies integrate BLOC-1 subunits to diversify endosomal trafficking functions.
PMID: 41557793
Proc Natl Acad Sci U S A Β· 2026
0.50