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. Is expressed in endothelial cell and neurons. Used to study Hermansky-Pudlak syndrome. Orthologous to human BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bloc1s2 Human Ortholog
No data available
Associated With bloc1s2 Via Experimental Models
Gene Ontology
Protein Domains
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:Q498W8 167
UniProtKB:A2BIA5 177
UniProtKB:E9QEJ0 174
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations