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: 89781
MIM: 606682
HGNC: 15844
Ensembl: ENSG00000100099
Variants:
dbSNP: 89781
ClinVar: 89781
TCGA: ENSG00000100099
COSMIC: HPS4
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Vesicle-mediated transport | REACTOME | R-HSA-5653656 |
| Membrane Trafficking | REACTOME | R-HSA-199991 |
| RAB GEFs exchange GTP for GDP on RABs | REACTOME | R-HSA-8876198 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 23563589 | 2013 | An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. | 5 |
| 24168225 | 2013 | Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. | 5 |
| 23563589 | 2013 | An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. | 5 |
| 24168225 | 2013 | Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. | 5 |
| 23084991 | 2012 | BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. | 148 |
| 23084991 | 2012 | BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. | 148 |
| 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 |
| 20048159 | 2010 | Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. | 47 |
| 20048159 | 2010 | Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. | 47 |
| 18463683 | 2008 | Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. | 44 |
| 18463683 | 2008 | Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. | 44 |
| 16431308 | 2006 | Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. | 27 |
| 16431308 | 2006 | Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. | 27 |
| 12663659 | 2003 | The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. | 38 |
Citation
Dessen P
HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64418/hps4-(hps4-biogenesis-of-lysosomal-organelles-complex-3-subunit-2)
