Gene
hps4
- ID
- ZDB-GENE-040426-1068
- Name
- HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
- Symbol
- hps4 Nomenclature History
- Previous Names
-
- zgc:56538 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 4; and schizophrenia. Orthologous to human HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56538 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Schenk et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Hermansky-Pudlak syndrome 4 | Alliance | Hermansky-Pudlak syndrome 4 | 614073 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BLOC-3 complex member HPS4 | CCZ1/INTU/HPS4, third Longin domain | CCZ1/INTU/HSP4, first Longin domain |
|---|---|---|---|---|
|
UniProtKB:Q7ZTX8
|
647 |
Interactions and Pathways
No data available
Plasmids
No data available