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 |
|---|---|---|---|
| RS1724509208 | Health Risk | Pathogenic | — |
| RS201227603 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, HPS3-related disorder |
| RS2108111799 | Health Risk | Pathogenic | — |
| RS2108112398 | Health Risk | Pathogenic | — |
| RS2108112449 | Health Risk | Pathogenic | — |
| RS2108112474 | Health Risk | Pathogenic | — |
| RS2108127864 | Health Risk | Pathogenic | — |
| RS2108128892 | Health Risk | Pathogenic | — |
| RS2108128944 | Health Risk | Pathogenic | — |
| RS2108129931 | Health Risk | Pathogenic | — |
| RS2108129996 | Health Risk | Pathogenic | — |
| RS2108130124 | Health Risk | Pathogenic | — |
| RS2108138101 | Health Risk | Pathogenic | — |
| RS2108146990 | Health Risk | Pathogenic | — |
| RS2108152647 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2108155359 | Health Risk | Pathogenic | — |
| RS2108158577 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2108168417 | Health Risk | Pathogenic | — |
| RS2108184013 | Health Risk | Pathogenic | — |
| RS2108184065 | Health Risk | Pathogenic | — |
| RS2108184492 | Health Risk | Pathogenic | — |
| RS2472688813 | Health Risk | Pathogenic | — |
| RS2472688931 | Health Risk | Pathogenic | — |
| RS2473044613 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473045204 | Health Risk | Pathogenic | — |
| RS2473045218 | Health Risk | Pathogenic | — |
| RS2473069249 | Health Risk | Pathogenic | — |
| RS2473069493 | Health Risk | Pathogenic | — |
| RS2473069885 | Health Risk | Pathogenic | — |
| RS2473072438 | Health Risk | Pathogenic | — |
| RS2473072828 | Health Risk | Pathogenic | — |
| RS2473073532 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473073727 | Health Risk | Pathogenic | — |
| RS2473081667 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473082063 | Health Risk | Pathogenic | — |
| RS2473099362 | Health Risk | Pathogenic | — |
| RS2473099711 | Health Risk | Pathogenic | — |
| RS2473102754 | Health Risk | Pathogenic | — |
| RS2473107502 | Health Risk | Pathogenic | — |
| RS2473109743 | Health Risk | Pathogenic | — |
| RS2473110523 | Health Risk | Pathogenic | — |
| RS2473114250 | Health Risk | Pathogenic | — |
| RS2473114256 | Health Risk | Pathogenic | — |
| RS2473120848 | Health Risk | Pathogenic | — |
| RS2473124521 | Health Risk | Pathogenic | — |
| RS2473128700 | Health Risk | Pathogenic | — |
| RS2473128888 | Health Risk | Pathogenic | — |
| RS281865093 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS369855073 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS552963632 | Health Risk | Pathogenic | — |