HPS4 Chromosome 22
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
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What This Gene Does
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
Biogenesis of lysosomal organelles complex 3
Locus Type
gene with protein product
Location
22q12.1
Ensembl
ENSG00000100099
Associated Conditions (26)
Hermansky-Pudlak syndrome 4
HPS4-related disorder
Inborn genetic diseases
See cases
Oculocutaneous albinism
Uveal melanoma
Colorectal cancer
Thyroid cancer
nonmedullary
1
Hepatocellular carcinoma
Adrenocortical carcinoma
hereditary
Lung cancer
Cervical cancer
Clear cell carcinoma of kidney
Malignant lymphoma
large B-cell
diffuse
Melanoma
+6 more conditions
Key Variants
RS1210344296
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
Health Risk
RS1356334936
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
Health Risk
RS138343171
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
Health Risk
RS139165558
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
Health Risk
RS140234219
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 4, HPS4-related disorder, Hermansky-Pudlak syndrome 4
Health Risk
RS140430822
Conflicting classifications of pathogenicity
Inborn genetic diseases, HPS4-related disorder, Inborn genetic diseases
Health Risk
RS143902143
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 4, Inborn genetic diseases, HPS4-related disorder
Health Risk
RS145481980
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 4, Inborn genetic diseases, Hermansky-Pudlak syndrome 4
Health Risk
RS146303784
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
Health Risk
RS147435410
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
Health Risk
RS148134252
Conflicting classifications of pathogenicity
Inborn genetic diseases, HPS4-related disorder, Inborn genetic diseases
Health Risk
RS149689335
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (114)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369777121 | Health Risk | Pathogenic | — |
| RS760897880 | Health Risk | Pathogenic | — |
| RS769405747 | Health Risk | Pathogenic | — |
| RS119471023 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome, See cases |
| RS2146241760 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518062993 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518285878 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS369053765 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome |
| RS372020804 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS372833027 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS374343385 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS763190774 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS773968140 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS774979651 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |