AlphaFold predicted structure
HPS6 · Q86YV9
Mean pLDDT
77.1/ 100
Confident
775 residues
Confidence breakdown
- Very high(≥ 90)12%
- Confident(70–90)64%
- Low(50–70)17%
- Very low(< 50)8%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HPS6
Chr 10q24.32HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
- Aliases:
- FLJ22501, BLOC2S3
- MANE:
- ENST00000299238.7
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomalBleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomalCOVID-19 research
BIALLELIC, autosomal or pseudoautosomalGastrointestinal epithelial barrier disorders
BIALLELIC, autosomal or pseudoautosomalInfantile enterocolitis & monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalInherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalFamilial pulmonary fibrosis
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Hermansky-Pudlak syndrome without pulmonary fibrosis
0.78Hermansky-Pudlak syndrome
0.76atrial fibrillation
0.25hereditary disease
0.19Platelet storage pool disease
0.15actinic keratosis
0.13Abnormal bleeding
0.11Thrombocytopenia
0.11skin cancer
0.11oculocutaneous albinism type 6
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
BLOC-2 complex member HPS6
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules (PubMed:17041891). Acts as a cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning (PubMed:25189619)