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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BORCS7
BLOC-1 related complex subunit 7
Chromosome 10 · 10q24.32
NCBI Gene: 119032Ensembl: ENSG00000166275.17HGNC: HGNC:23516UniProt: Q96B45
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingBORC complexcytoplasmic side of lysosomal membraneorganelle transport along microtubulesmoking initiationschizophreniacrush injurymorbid obesity
✦AI Summary

BORCS7 is a subunit of the BLOC-1 related complex (BORC), a cytosolic protein complex that regulates lysosomal positioning and organelle transport. As part of BORC, BORCS7 associates with the cytosolic face of lysosomes and facilitates recruitment of the ARL8B GTPase to couple lysosomes to kinesin motors for microtubule plus-end-directed transport 1. This positions lysosomes at the cell periphery and regulates endosome and lysosome size through organelle-cytoskeleton interactions 1. Genetically, BORCS7 is a schizophrenia risk gene at the chromosome 10.32 locus. Risk alleles increase BORCS7 expression in the human brain, particularly in neurons and astrocytes during development 23. Structural variations affecting BORCS7 expression contribute to schizophrenia susceptibility, and mice overexpressing Borcs7 in the medial prefrontal cortex exhibit schizophrenia-like behaviors including abnormal prepulse inhibition and social dysfunction 4. BORCS7 also negatively regulates muscle mass and function, as genetic variants reducing BORCS7 expression causally associate with improved muscle quantity and quality, suggesting therapeutic potential for sarcopenia treatment 5. Additionally, BORCS7 expression is modulated during human cytomegalovirus infection 6.

Sources cited
1
BORC complex function in lysosomal positioning, ARL8B recruitment, kinesin-mediated transport, and neurodevelopmental disease mechanisms
PMID: 28986965
2
BORCS7 is a schizophrenia risk gene at 10q24.32 with increased expression in human brain associated with risk alleles; expression in neurons and astrocytes during neural development
PMID: 27158905
3
BORCS7 altered cis-regulation and allelic expression association with schizophrenia risk variants at chromosome 10q24
PMID: 27004590
4
Structural variations affecting BORCS7 expression contribute to schizophrenia risk; mice overexpressing Borcs7 exhibit schizophrenia-like behaviors
PMID: 38718554
5
BORCS7 negatively regulates muscle mass and function; genetic variants associated with sarcopenia susceptibility
PMID: 39117060
6
BORCS7 expression is affected during human cytomegalovirus infection
PMID: 32481657
Disease Associationsⓘ20
smoking initiationOpen Targets
0.31Weak
schizophreniaOpen Targets
0.30Weak
crush injuryOpen Targets
0.26Weak
morbid obesityOpen Targets
0.24Weak
autism spectrum disorderOpen Targets
0.13Weak
bipolar disorderOpen Targets
0.11Weak
obsessive-compulsive disorderOpen Targets
0.10Weak
Tourette syndromeOpen Targets
0.10Weak
anorexia nervosaOpen Targets
0.09Suggestive
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
major depressive disorderOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.08Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
gastroesophageal reflux diseaseOpen Targets
0.06Suggestive
Early-onset X-linked optic atrophyOpen Targets
0.06Suggestive
optic atrophy 2Open Targets
0.06Suggestive
Young adult-onset ParkinsonismOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BORCS6Protein interaction100%BORCS5Protein interaction100%KXD1Protein interaction92%BORCS8Protein interaction92%AS3MTProtein interaction85%BLOC1S1Protein interaction76%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
65%
Heart
59%
Brain
45%
Ovary
39%
Lung
32%
Gene Interaction Network
Click a node to explore
BORCS7BORCS6BORCS5KXD1BORCS8AS3MTBLOC1S1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96B45
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.48LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.54–1.48]
RankingsWhere BORCS7 stands among ~20K protein-coding genes
  • #12,109of 20,598
    Most Researched29
  • #15,073of 17,882
    Most Constrained (LOEUF)1.48
Genes detectedBORCS7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identifying genetic determinants of sarcopenia-related traits: a Mendelian randomization study of druggable genes.
PMID: 39117060
Metabolism · 2024
1.00
2
A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus.
PMID: 27158905
Nat Med · 2016
0.90
3
Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.
PMID: 27004590
Am J Med Genet B Neuropsychiatr Genet · 2016
0.80
4
Arsenic Metabolism in Mice Carrying a
PMID: 32779937
Environ Health Perspect · 2020
0.70
5
A Comparative Quantitative Proteomic Analysis of HCMV-Infected Cells Highlights pUL138 as a Multifunctional Protein.
PMID: 32481657
Molecules · 2020
0.60