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HPS5

Synonyms
AIBP63, BLOC2S2
External resources
Summary
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
22
Likely pathogenic
0
VUS
3,947
Likely benign
11,825
Benign
914

Patient Phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on HPS5 gene are displayed below. The following symptoms were found in patients with a variant in HPS5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the immune system
18.2%
Abnormality of the eye
13.6%
Abnormality of the musculoskeletal system
13.6%
Abnormality of the nervous system
13.6%
Abnormality of blood and blood forming tissues
9.1%
Abnormality of head or neck
9.1%
Abnormality of limbs
9.1%
Abnormality of the genitourinary system
9.1%
Growth abnormality
9.1%
Abnormality of metabolism homeostasis
4.5%
Abnormality of the cardiovascular system
4.5%
Abnormality of the digestive system
4.5%
Abnormality of the ear
4.5%
Abnormality of the endocrine system
4.5%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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