BLOC1S2
Biogenesis of lysosomal organelles complex 1 subunit 2
Gene Information Card
| Symbol | BLOC1S2 |
|---|---|
| Full Name | Biogenesis of lysosomal organelles complex 1 subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 282991 ncbi.nlm.nih.gov/gene/282991 |
| Ensembl ID | ENSG00000165806 |
| UniProt ID | Q6QNY0 |
| OMIM ID | 609768 |
| HGNC ID | 20980 |
| Aliases | BLOS2, HPS9, MGC2652 |
Description
BLOC1S2 (Biogenesis of lysosomal organelles complex 1 subunit 2) is a protein-coding gene that encodes a component of the BLOC-1 (biogenesis of lysosome-related organelles complex 1) complex. This complex is essential for the biogenesis of specialized lysosome-related organelles such as melanosomes and platelet dense granules. Mutations in BLOC1S2 cause Hermansky-Pudlak syndrome type 9 (HPS9), characterized by oculocutaneous albinism and bleeding diathesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 9 | Loss-of-function mutations in BLOC1S2 disrupt BLOC-1 complex assembly, impairing melanosome and platelet dense granule biogenesis. | OMIM #614072; ClinVar |
| Albinism, oculocutaneous, type 2 (OCA2) modifier | BLOC1S2 variants may modify OCA2 phenotype through shared melanosome trafficking pathways. | PubMed; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| HeLa | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.151C>T (p.Arg51*) | Nonsense | Rare | Loss of function; associated with HPS9 |
| c.200_201delAG (p.Glu67Valfs*12) | Frameshift | Rare | Loss of function; associated with HPS9 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; predicted null allele |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, disrupting BLOC-1 complex and causing HPS9.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • lysosome (GO:0005764) | • BLOC-1 complex (GO:0031083) |
| • melanosome organization (GO:0032438) | • lysosomal lumen pH elevation (GO:0035578) |
| • melanosome (GO:0042470) |
Pathways
• Biogenesis of lysosome-related organelles complex 1 (BLOC-1) pathway
• Hermansky-Pudlak syndrome pathway
Protein Summary
BLOC1S2 encodes a 142-amino acid protein (UniProt Q6QNY0) that is a core component of the BLOC-1 complex. The protein contains a conserved BLOC-1 subunit domain and interacts with other BLOC-1 subunits (e.g., BLOC1S1, BLOC1S3) to facilitate cargo sorting from early endosomes to lysosome-related organelles. Loss of BLOC1S2 destabilizes the complex, leading to defective melanosome and platelet dense granule formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BLOC1S2 Knockout HEK293 Cell Line | EDJ-KQ12538 | Human | 282991 | Details Get a Quote |
| BLOC1S2 Knockout A-549 Cell Line | EDJ-KQ41530 | Human | 282991 | Details Get a Quote |
| BLOC1S2 Knockout HCT 116 Cell Line | EDJ-KQ41531 | Human | 282991 | Details Get a Quote |
| BLOC1S2 Knockout HeLa Cell Line | EDJ-KQ41532 | Human | 282991 | Details Get a Quote |
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