AP3B1 Chromosome 5
Adaptor related protein complex 3 subunit beta 1
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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. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
"Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3"
Locus Type
gene with protein product
Location
5q14.1
Ensembl
ENSG00000132842
Associated Conditions (12)
Hermansky-Pudlak syndrome 2
Autoinflammatory syndrome
Hermansky-Pudlak syndrome
AP3B1-related disorder
Inborn genetic diseases
Familial cancer of breast
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Hepatocellular carcinoma
Combined immunodeficiency
Key Variants
RS112652327
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
Health Risk
RS113301033
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
Health Risk
RS115747826
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
Health Risk
RS139968311
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome
Health Risk
RS142025324
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, AP3B1-related disorder
Health Risk
RS142938290
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, AP3B1-related disorder, Hermansky-Pudlak syndrome 2
Health Risk
RS143589037
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
Health Risk
RS145351589
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Inborn genetic diseases, Hermansky-Pudlak syndrome 2
Health Risk
RS145787996
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2
Health Risk
RS146871001
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Familial cancer of breast, Clear cell carcinoma of kidney
Health Risk
RS149263390
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, AP3B1-related disorder, Hermansky-Pudlak syndrome 2
Health Risk
RS150000996
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, AP3B1-related disorder
Health Risk
All Variants (91)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2530998325 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2531000994 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2531000996 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2531030542 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2531063636 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2531110975 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2531191006 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS1000881595 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS1195260459 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS1207467578 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS121908904 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS121908905 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS121908906 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS121908907 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS1457697672 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS1744118616 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS1745947620 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS1753129765 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2112100020 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2112100189 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2112100217 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2112100310 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2112518616 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2530812413 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2530967790 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2530998107 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2531000611 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome |
| RS2531076655 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2531076892 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2531076982 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2531190870 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS752519227 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS776590274 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS869312835 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS869312836 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS869312837 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS869312838 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome, Hermansky-Pudlak syndrome 2 |
| RS1746480237 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS1746822963 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS2530812497 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS370293290 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |