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 |
|---|---|---|---|
| RS2472693625 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473045365 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473045441 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473045787 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473067623 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473067970 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473068114 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473068223 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473068323 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473068670 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473069079 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473069109 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473069116 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473069141 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473069504 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473069629 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473069907 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473070242 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473072237 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473072416 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473072448 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473072455 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473072537 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473072769 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473072847 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473073701 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473073722 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473073776 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473073837 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473081587 | Health Risk | Likely pathogenic | — |
| RS2473081922 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473082110 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473082163 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473082189 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473092780 | Health Risk | Likely pathogenic | — |
| RS2473093098 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473099280 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473099293 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473107383 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473107445 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473107472 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473109713 | Health Risk | Likely pathogenic | — |
| RS2473110376 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473110430 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473113411 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473114037 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473114195 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473120100 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473120193 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473120370 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |