HPS5 Chromosome 11
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
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What This Gene Does
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|Biogenesis of lysosomal organelles complex 2 "
Locus Type
gene with protein product
Location
11p15.1
Ensembl
ENSG00000110756
Associated Conditions (8)
Hermansky-Pudlak syndrome 5
Inborn genetic diseases
HPS5-related disorder
Colorectal cancer
Lung cancer
Cervical cancer
Hermansky-Pudlak syndrome
Ovarian serous cystadenocarcinoma
Key Variants
RS1385130088
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
Health Risk
RS139004989
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
Health Risk
RS139039126
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
Health Risk
RS139795577
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
Health Risk
RS143204089
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
Health Risk
RS143265437
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145135349
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147053126
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 5, HPS5-related disorder, Hermansky-Pudlak syndrome 5
Health Risk
RS147430035
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 5, HPS5-related disorder, Hermansky-Pudlak syndrome 5
Health Risk
RS149039105
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 5, Inborn genetic diseases, HPS5-related disorder
Health Risk
RS149564550
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 5, HPS5-related disorder, Inborn genetic diseases
Health Risk
RS149677540
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 5, Colorectal cancer, Lung cancer
Health Risk
All Variants (129)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2494681209 | Health Risk | Pathogenic | — |
| RS2494683377 | Health Risk | Pathogenic | — |
| RS2494686109 | Health Risk | Pathogenic | — |
| RS2494706450 | Health Risk | Pathogenic | — |
| RS2494707071 | Health Risk | Pathogenic | — |
| RS2494708669 | Health Risk | Pathogenic | — |
| RS2494736104 | Health Risk | Pathogenic | — |
| RS2494736729 | Health Risk | Pathogenic | — |
| RS2494765841 | Health Risk | Pathogenic | — |
| RS281865101 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5 |
| RS281865103 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5 |
| RS281865104 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5 |
| RS281865105 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5 |
| RS397507169 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5 |
| RS577034676 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5 |
| RS753928208 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5 |
| RS755827664 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome |
| RS761811248 | Health Risk | Pathogenic | HPS5-related disorder, Hermansky-Pudlak syndrome, HPS5-related disorder |
| RS767560852 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS769197301 | Health Risk | Pathogenic | — |
| RS781068928 | Health Risk | Pathogenic | — |
| RS886041723 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 5 |
| RS927207558 | Health Risk | Pathogenic | — |
| RS1131692148 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5 |
| RS1262983210 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5 |
| RS746844529 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5 |
| RS758338350 | Health Risk | Pathogenic/Likely pathogenic | HPS5-related disorder, HPS5-related disorder |
| RS766602179 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 5 |
| RS779921624 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome |