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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BLOC1S2
biogenesis of lysosomal organelles complex 1 subunit 2
Chromosome 10 · 10q24.31
NCBI Gene: 282991Ensembl: ENSG00000196072.12HGNC: HGNC:20984UniProt: A0A087X1N6
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lysosome localizationmitochondrionmitochondrial outer membrane permeabilizationprotein bindingneurodegenerative diseaseAbnormality of the liverpsoriasissquamous cell lung carcinoma
✦AI Summary

BLOC1S2 encodes a subunit of the BLOC-1 complex, a hetero-octameric protein assembly with a distinctive arc-shaped architecture composed of two hemicomplexes 1. As a component of BLOC-1, BLOC1S2 is essential for biogenesis of lysosome-related organelles (LROs) including platelet dense granules and melanosomes 1. BLOC1S2 also participates in the BORC complex, which recruits motor proteins to lysosomes for microtubule-directed transport and peripheral localization 1. Beyond vesicle trafficking, BLOC1S2 interacts with HIPPI and sensitizes cells to apoptosis by enhancing caspase activation and mitochondrial membrane disruption 2. During hematopoietic development, BLOC1S2 maintains hematopoietic stem cell homeostasis by repressing Notch signaling 3. Clinically, BLOC1S2 mutations contribute to Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by defective LRO biogenesis, oculocutaneous albinism, platelet storage pool deficiency, and progressive pulmonary fibrosis 4. BLOC1S2 is downregulated in dendritic cells from COPD patients, suggesting potential involvement in chr10 obstructive pulmonary disease pathogenesis 5. Understanding BLOC1S2's molecular architecture and diverse cellular functions advances therapeutic strategies for lysosomal storage diseases and immune-mediated lung disorders.

Sources cited
1
BLOC1S2 is a subunit of the hetero-octameric BLOC-1 complex with arc-shaped architecture; BLOC-1 regulates LRO biogenesis and intracellular vesicle trafficking
PMID: 40279797
2
BLOC1S2 interacts with HIPPI protein and sensitizes glioblastoma cells to apoptosis through enhanced caspase activation and mitochondrial dysfunction
PMID: 18188704
3
BLOC1S2 maintains hematopoietic stem cell homeostasis in fetal liver by repressing Notch signaling
PMID: 28456747
4
BLOC1S2 mutations are associated with Hermansky-Pudlak syndrome, characterized by defective LRO biogenesis, albinism, platelet deficiency, and pulmonary fibrosis
PMID: 32436471
5
BLOC1S2 is downregulated in dendritic cells from COPD patients and may be involved in emphysema development
PMID: 41185886
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
Abnormality of the liverOpen Targets
0.25Weak
psoriasisOpen Targets
0.11Weak
squamous cell lung carcinomaOpen Targets
0.09Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
ThrombocytopeniaOpen Targets
0.04Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
thrombocytopenia 7Open Targets
0.04Suggestive
thrombocytopenia 4Open Targets
0.04Suggestive
congenital amegakaryocytic thrombocytopenia 1Open Targets
0.04Suggestive
amegakaryocytic thrombocytopenia, congenital, 2Open Targets
0.04Suggestive
metabolic diseaseOpen Targets
0.03Suggestive
skin diseaseOpen Targets
0.03Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.03Suggestive
coronary atherosclerosisOpen Targets
0.03Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.03Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.03Suggestive
platelet-type bleeding disorder 15Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BCAS4Protein interaction100%MZT1Protein interaction100%MZT2AProtein interaction92%TOPORSProtein interaction90%TUBGCP4Protein interaction90%CPAPProtein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
57%
Liver
31%
Lung
30%
Heart
26%
Ovary
16%
Gene Interaction Network
Click a node to explore
BLOC1S2BCAS4MZT1MZT2ATOPORSTUBGCP4CPAP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6QNY1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.43–1.08]
RankingsWhere BLOC1S2 stands among ~20K protein-coding genes
  • #9,048of 20,598
    Most Researched48
  • #11,040of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedBLOC1S2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Biochemical and structural characterization of Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1).
PMID: 40279797
Biochem Biophys Res Commun · 2025
1.00
2
Identification of Dendritic Cell-Associated Genes in COPD Based on Bioinformatics.
PMID: 41185886
Int J Chron Obstruct Pulmon Dis · 2025
0.90
3
Cooperative evolution of two different TEs results in lineage-specific novel transcripts in the BLOC1S2 gene.
PMID: 31666001
BMC Evol Biol · 2019
0.80
4
BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis.
PMID: 18188704
Apoptosis · 2008
0.70
5
BLOS2 maintains hematopoietic stem cells in the fetal liver via repressing Notch signaling.
PMID: 28456747
Exp Hematol · 2017
0.60