BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2)

2008-12-01  

Identity

HGNC
LOCATION
10q24.31
LOCUSID
ALIAS
BLOS2,BORCS2,CEAP,CEAP11
FUSION GENES

Other Information

Locus ID:

NCBI: 282991
MIM: 609768
HGNC: 20984
Ensembl: ENSG00000196072

Variants:

dbSNP: 282991
ClinVar: 282991
TCGA: ENSG00000196072
COSMIC: BLOC1S2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196072ENST00000370372Q6QNY1
ENSG00000196072ENST00000370372F1T0F0
ENSG00000196072ENST00000441611Q6QNY1
ENSG00000196072ENST00000579542J3QRU7
ENSG00000196072ENST00000614731Q6QNY1
ENSG00000196072ENST00000618916A0A087X1N6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
151028502004Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).103
203080622010Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin.19
181887042008BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis.8
190831212009A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1).0

Citation

Dessen P

BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50464/bloc1s2-(biogenesis-of-lysosomal-organelles-complex-1-subunit-2)