HPS5

Chr 11p15.1

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

Aliases:: BLOC2S2, AIBP63, RU2
MANE:: ENST00000349215.8

OMIM: 607521 ↗NCBI: 11234 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

HPS5 · Q9UPZ3

v62025-08-01

Predicted Aligned Error matrix for HPS5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.7/ 100

Confident

1,129 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)38%
Low(50–70)4%
Very low(< 50)25%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Ocular and oculo-cutaneous albinism
BIALLELIC, autosomal or pseudoautosomal
Familial pulmonary fibrosis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Hermansky-Pudlak syndrome
0.80
Hermansky-Pudlak syndrome without pulmonary fibrosis
0.79
neurodegenerative disease
0.30
hair color
0.25
hereditary disease
0.19
Thrombocytopenia
0.11
Abnormal bleeding
0.11
adolescent idiopathic scoliosis
0.10
oculocutaneous albinism type 6
0.10
dyschromatosis symmetrica hereditaria
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

BLOC-2 complex member HPS5

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins