HPS3 Chromosome 3
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
Upload your DNA to see your personal genotypes for variants in HPS3.
What This Gene Does
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
Biogenesis of lysosomal organelles complex 2
Locus Type
gene with protein product
Location
3q24
Ensembl
ENSG00000163755
Associated Conditions (6)
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome
HPS3-related disorder
Inborn genetic diseases
Hepatocellular carcinoma
Hermansky-Pudlak syndrome 2
Key Variants
RS113381494
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder
Health Risk
RS1343390851
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
Health Risk
RS138987987
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, HPS3-related disorder, Hermansky-Pudlak syndrome 3
Health Risk
RS141832148
Conflicting classifications of pathogenicity
HPS3-related disorder, Inborn genetic diseases, HPS3-related disorder
Health Risk
RS141883346
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
Health Risk
RS141916243
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
Health Risk
RS142027515
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder
Health Risk
RS144099522
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, HPS3-related disorder
Health Risk
RS145158238
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Inborn genetic diseases, Hermansky-Pudlak syndrome
Health Risk
RS148168280
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder
Health Risk
RS150262900
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
Health Risk
RS1723945036
Conflicting classifications of pathogenicity
HPS3-related disorder, HPS3-related disorder
Health Risk
All Variants (251)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS745457191 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome |
| RS750685598 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, HPS3-related disorder, Hermansky-Pudlak syndrome 3 |
| RS752034836 | Health Risk | Pathogenic | — |
| RS752087954 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS753185316 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome |
| RS755083879 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome |
| RS760577035 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS760647222 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS763305108 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS766446900 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS769037441 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS776560190 | Health Risk | Pathogenic | — |
| RS866231304 | Health Risk | Pathogenic | — |
| RS1032570128 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS121908316 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS1271131796 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1330496818 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1336214631 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1363245838 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1411572278 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS1466073004 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1488175163 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1559908974 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1576687466 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1576695913 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome |
| RS1722734460 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1723609962 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS200079039 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS2108173648 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2108184819 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome |
| RS2473044980 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473045386 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473069453 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS2473099287 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473099536 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473120938 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473124437 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS281865095 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome |
| RS397507168 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS748883997 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS749632423 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS752837159 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, HPS3-related disorder, Hermansky-Pudlak syndrome 3 |
| RS755841847 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS756611897 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS765169755 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS770108122 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS772860370 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS778152054 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS780470124 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS866769733 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |