Basic information
- Full name
- HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
- Ensembl
- ENSG00000110756.18
- Summary
- 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]
Protein product
- ENST00000349215.8 Primary ENSP00000265967.5 (27 phosphosites)
- ENST00000396253.7
- ENST00000438420.6
- ENST00000531848.1
- ENST00000537258.1
Phosphosites on the primary protein product
Tumor and normal comparison
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Data type | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
mRNA expression at gene level
Protein expression
Phenotype and mutation association
Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types
Associations of the protein abundance of HPS5 with phenotypes and mutations
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
Cis-association
Associations between omics data of HPS5
Trans-association
Associations of the protein abundance of HPS5 and the protein abundance of other genes
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
Gene set enrichment analysis
Submit genes and the common logarithm of the p-values of their association with to WebGestalt.