Gene
bloc1s2
- ID
- ZDB-GENE-050809-129
- Name
- biogenesis of lysosomal organelles complex-1, subunit 2
- Symbol
- bloc1s2 Nomenclature History
- Previous Names
-
- zgc:111974
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have gamma-tubulin binding activity. Involved in negative regulation of Notch signaling pathway and regulation of hematopoietic progenitor cell differentiation. Predicted to localize to BLOC-1 complex; BORC complex; and gamma-tubulin complex. Used to study Hermansky-Pudlak syndrome. Is expressed in endothelial cell and neurons. Orthologous to human BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Hermansky-Pudlak syndrome | bloc1s2ihb818/ihb818 | standard conditions | Chen et al., 2018 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR019269 | Biogenesis of lysosome-related organelles complex-1, subunit 2 |
Domain Details Per Protein
| Protein | Length | Biogenesis of lysosome-related organelles complex-1, subunit 2 |
|---|---|---|
|
UniProtKB:E9QEJ0
|
174 | |
|
UniProtKB:A2BIA5
|
177 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bloc1s2-201
(1)
|
Ensembl | 924 nt | ||
| mRNA |
bloc1s2-202
(1)
|
Ensembl | 915 nt | ||
| mRNA |
bloc1s2-203
(1)
|
Ensembl | 1,019 nt |
Interactions and Pathways
No data available
Plasmids
No data available