AlphaFold predicted structure
HPS4 · Q9NQG7
Mean pLDDT
61.7/ 100
Low
708 residues
Confidence breakdown
- Very high(≥ 90)30%
- Confident(70–90)23%
- Low(50–70)3%
- Very low(< 50)43%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HPS4
Chr 22q12.1HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
- Aliases:
- KIAA1667, LE, BLOC3S2
- MANE:
- ENST00000398145.7
Annotations refreshed 1 month 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 pseudoautosomalFamilial pulmonary fibrosis
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 pseudoautosomalOcular and oculo-cutaneous albinism
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Hermansky-Pudlak syndrome with pulmonary fibrosis
0.79Hermansky-Pudlak syndrome
0.77lung disorder
0.37hereditary disease
0.34oculocutaneous albinism
0.12idiopathic pulmonary fibrosis
0.11schizophrenia
0.06infection
0.06X-linked recessive ocular albinism
0.06UV-sensitive syndrome 3
0.06
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
BLOC-3 complex member HPS4
Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991)