HPS6 Gene - Hermansky-Pudlak Syndrome 6
Comprehensive genomic and clinical resource for HPS6, a key component of the BLOC-2 complex involved in organelle biogenesis.
Gene Information Card
| Symbol | HPS6 |
|---|---|
| Full Name | HPS6, biogenesis of lysosomal organelles complex 2 subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 79803 ncbi.nlm.nih.gov/gene/79803 |
| Ensembl ID | ENSG00000166197 |
| UniProt ID | Q86YV9 |
| OMIM ID | 607522 |
| HGNC ID | 14017 |
| Aliases | BLOC2S2, HPS6, Hermansky-Pudlak syndrome 6 protein |
Description
The HPS6 gene encodes a subunit of the biogenesis of lysosome-related organelles complex 2 (BLOC-2). This complex is essential for the proper trafficking of cargo proteins to lysosome-related organelles such as melanosomes and platelet dense granules. Mutations in HPS6 cause Hermansky-Pudlak syndrome type 6 (HPS-6), characterized by oculocutaneous albinism, bleeding diathesis due to platelet storage pool deficiency, and occasionally pulmonary fibrosis or granulomatous colitis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 6 (HPS-6) | Loss-of-function mutations in HPS6 disrupt BLOC-2 complex assembly, impairing melanosome and dense granule biogenesis. | ClinVar, OMIM |
| Oculocutaneous albinism (OCA) with bleeding diathesis | Defective melanosome maturation leads to reduced pigmentation; platelet dense granule deficiency causes prolonged bleeding. | OMIM, NCBI Gene |
| Pulmonary fibrosis (rare) | Accumulation of abnormal lysosomal-related organelles in alveolar macrophages may contribute to fibrotic lung disease. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 8.2 | Medium |
| Spleen | 6.5 | Medium |
| Bone marrow | 5.9 | Medium |
| Skin | 4.8 | Low |
| Whole blood | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.3 | Embryonic kidney cells |
| K562 | 6.1 | Leukemia cell line |
| A549 | 5.4 | Lung carcinoma cells |
| HepG2 | 4.2 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1060C>T (p.Arg354Ter) | Nonsense | Reported in HPS-6 families | Premature truncation, loss of BLOC-2 function |
| c.1300delG (p.Val434TrpfsTer27) | Frameshift deletion | Rare | Loss of protein function |
| c.1A>G (p.Met1?) | Start loss | Reported | No protein translation |
| c.1732C>T (p.Arg578Ter) | Nonsense | Reported | Truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most HPS6 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to BLOC-2 complex instability and impaired lysosome-related organelle biogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported for HPS6.
Dominant Negative (DN)
No dominant-negative mutations reported; HPS6-associated disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • BLOC-2 complex (GO:0031084) | • melanosome organization (GO:0032438) |
| • lysosome (GO:0005764) | • lysosome localization (GO:0032418) |
| • Golgi apparatus (GO:0005794) | • endosomal transport (GO:0016197) |
Pathways
• Hermansky-Pudlak syndrome pathway (BLOC-2 dependent)
• Lysosome-related organelle biogenesis
• Melanosome maturation and transport
Protein Summary
The HPS6 protein (UniProt Q86YV9) is a 775-amino acid component of the BLOC-2 complex, which also includes HPS3 and HPS5. It localizes to endosomal membranes and facilitates cargo sorting to lysosome-related organelles. The protein contains predicted coiled-coil regions and is ubiquitously expressed, with highest levels in lung and spleen. Defects in HPS6 cause Hermansky-Pudlak syndrome type 6.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HPS6 Knockout HEK293 Cell Line | EDJ-KQ13774 | Human | 79803 | Details Get a Quote |
| HPS6 Knockout A-549 Cell Line | EDJ-KQ43557 | Human | 79803 | Details Get a Quote |
| HPS6 Knockout HCT 116 Cell Line | EDJ-KQ43558 | Human | 79803 | Details Get a Quote |
| HPS6 Knockout HeLa Cell Line | EDJ-KQ43559 | Human | 79803 | Details Get a Quote |
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