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 |
|---|---|---|---|
| RS1210344296 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS1356334936 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS138343171 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS139165558 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS140234219 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, HPS4-related disorder, Hermansky-Pudlak syndrome 4 |
| RS140430822 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, HPS4-related disorder, Inborn genetic diseases |
| RS143902143 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Inborn genetic diseases, HPS4-related disorder |
| RS145481980 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Inborn genetic diseases, Hermansky-Pudlak syndrome 4 |
| RS146303784 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS147435410 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS148134252 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, HPS4-related disorder, Inborn genetic diseases |
| RS149689335 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149830675 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS150057646 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS150166679 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, HPS4-related disorder, Hermansky-Pudlak syndrome 4 |
| RS180729981 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS188300485 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, HPS4-related disorder, Hermansky-Pudlak syndrome 4 |
| RS199740072 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS199965734 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, HPS4-related disorder, Hermansky-Pudlak syndrome 4 |
| RS201043011 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Inborn genetic diseases, Hermansky-Pudlak syndrome 4 |
| RS201334605 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, See cases, Hermansky-Pudlak syndrome 4 |
| RS201820144 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS202120615 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS281865098 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS34962745 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Oculocutaneous albinism, Uveal melanoma |
| RS373421312 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, HPS4-related disorder, Hermansky-Pudlak syndrome 4 |
| RS3747131 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS375462083 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS375655372 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, HPS4-related disorder, Hermansky-Pudlak syndrome 4 |
| RS527653764 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS570371168 | Health Risk | Conflicting classifications of pathogenicity | HPS4-related disorder, HPS4-related disorder |
| RS571151621 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS571184796 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, HPS4-related disorder, Hermansky-Pudlak syndrome 4 |
| RS61729175 | Health Risk | Conflicting classifications of pathogenicity | HPS4-related disorder, Inborn genetic diseases, HPS4-related disorder |
| RS752827715 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hermansky-Pudlak syndrome 4, Inborn genetic diseases |
| RS752931351 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756215705 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS758547221 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS759632995 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS759909785 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762647750 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS763708665 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS767168755 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS78892693 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hermansky-Pudlak syndrome 4, Inborn genetic diseases |
| RS886057320 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS1373798392 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS1396012729 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |
| RS1472002787 | Health Risk | Likely pathogenic | — |
| RS1476012328 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS149817614 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |