BLOC1S2 Back

biogenesis of lysosome-related organelles complex-1, subunit 2

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of BLOC1S2

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants.

Community Annotation of BLOC1S2 Add / Edit BLOC1S2: Annotations

No community annotations yet for BLOC1S2.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


BLOC1S2 is highly significantly mutated in
BLOC1S2 is significantly mutated in
BLOC1S2 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for BLOC1S2