Gene: BLOC1S2

Alternate names for this Gene: BLOS2|BORCS2|CEAP|CEAP11

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.31

Description of this Gene: biogenesis of lysosomal organelles complex 1 subunit 2

Type of Gene: protein-coding

rs61871342 in BLOC1S2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs61871342 in BLOC1S2 gene and Psoriasis PMID 28537254 2017 Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants.