Identity
HGNC
LOCATION
11p15.1
LOCUSID
ALIAS
AIBP63,BLOC2S2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11234
MIM: 607521
HGNC: 17022
Ensembl: ENSG00000110756
Variants:
dbSNP: 11234
ClinVar: 11234
TCGA: ENSG00000110756
COSMIC: HPS5
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29090612 | 2018 | Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. | 2 |
| 29090612 | 2018 | Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. | 2 |
| 27593200 | 2016 | NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. | 15 |
| 27593200 | 2016 | NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. | 15 |
| 23607980 | 2013 | Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. | 4 |
| 23607980 | 2013 | Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. | 4 |
| 21833017 | 2011 | Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. | 12 |
| 21833017 | 2011 | Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. | 12 |
| 17301833 | 2007 | Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. | 23 |
| 17301833 | 2007 | Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. | 23 |
| 15030569 | 2004 | Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. | 50 |
| 15296495 | 2004 | Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. | 22 |
| 15030569 | 2004 | Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. | 50 |
| 15296495 | 2004 | Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. | 22 |
Citation
Dessen P
HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47152/hps5-(hps5-biogenesis-of-lysosomal-organelles-complex-2-subunit-2)
