HPS3 Chromosome 3
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
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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 |
|---|---|---|---|
| RS2473120616 | Health Risk | Likely pathogenic | HPS3-related disorder, HPS3-related disorder |
| RS2473120947 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473120979 | Health Risk | Likely pathogenic | — |
| RS2473123528 | Health Risk | Likely pathogenic | — |
| RS2473124046 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473124121 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473124553 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473124798 | Health Risk | Likely pathogenic | — |
| RS2473128423 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473128520 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473128577 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS2473128694 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS34388030 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3 |
| RS371430031 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS575323437 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS746906314 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS755724489 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS757569691 | Health Risk | Likely pathogenic | — |
| RS758736477 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS760255783 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS760787980 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS761144920 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS767709648 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS779088731 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS780183200 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome |
| RS1035427075 | Health Risk | Pathogenic | — |
| RS1043008266 | Health Risk | Pathogenic | — |
| RS1169648392 | Health Risk | Pathogenic | — |
| RS1172448451 | Health Risk | Pathogenic | — |
| RS1174849391 | Health Risk | Pathogenic | — |
| RS1180676335 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1292407171 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1312290440 | Health Risk | Pathogenic | — |
| RS1313576315 | Health Risk | Pathogenic | — |
| RS1363164647 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS141023798 | Health Risk | Pathogenic | Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS1421926305 | Health Risk | Pathogenic | — |
| RS1425760255 | Health Risk | Pathogenic | — |
| RS1431405050 | Health Risk | Pathogenic | — |
| RS1435508069 | Health Risk | Pathogenic | — |
| RS1452976388 | Health Risk | Pathogenic | — |
| RS1465275638 | Health Risk | Pathogenic | — |
| RS1553750083 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1722344275 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1722414362 | Health Risk | Pathogenic | — |
| RS1722726229 | Health Risk | Pathogenic | — |
| RS1722736328 | Health Risk | Pathogenic | — |
| RS1723365687 | Health Risk | Pathogenic | — |
| RS1723367742 | Health Risk | Pathogenic | — |
| RS1723605295 | Health Risk | Pathogenic | — |