HPS4 Chromosome 22
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Upload your DNA to see your personal genotypes for variants in HPS4.
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 |
|---|---|---|---|
| RS150216540 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome |
| RS1555907536 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS1569071931 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS1602079277 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2088169859 | Health Risk | Likely pathogenic | — |
| RS2146357374 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2146534178 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2146757484 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Melanoma, Hermansky-Pudlak syndrome 4 |
| RS2146819053 | Health Risk | Likely pathogenic | — |
| RS2518037452 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518199038 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2518202814 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518212988 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518216788 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518227378 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518228363 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518472872 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518487129 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518488260 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518592683 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518592712 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518647010 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518647036 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518648459 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518649819 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518649872 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4, Melanoma |
| RS2518700819 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS755970774 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS776613510 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS907021617 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS119471021 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS119471022 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS119471024 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS119471025 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2089664458 | Health Risk | Pathogenic | — |
| RS2091014318 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2146546594 | Health Risk | Pathogenic | — |
| RS2146553083 | Health Risk | Pathogenic | — |
| RS2146555632 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS2518038428 | Health Risk | Pathogenic | — |
| RS2518060168 | Health Risk | Pathogenic | — |
| RS2518197535 | Health Risk | Pathogenic | — |
| RS2518211627 | Health Risk | Pathogenic | — |
| RS2518229209 | Health Risk | Pathogenic | — |
| RS2518252276 | Health Risk | Pathogenic | — |
| RS2518471430 | Health Risk | Pathogenic | — |
| RS2518592169 | Health Risk | Pathogenic | — |
| RS2518649635 | Health Risk | Pathogenic | — |
| RS281865097 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS281865100 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |