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
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.27
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.27
190831212009A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1).13
190831212009A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1).13
181887042008BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis.10
181887042008BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis.10
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).124
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).124

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)