======= BLOC1S2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BLOC1S2
  * **<color #00a2e8>Official Name</color>**: biogenesis of lysosomal organelles complex 1 subunit 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=282991|282991]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6QNY1|Q6QNY1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BLOC1S2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BLOC1S2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609768|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**: N/A
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes (PubMed:15102850, PubMed:17182842). In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (By similarity). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end- directed kinesin motor (PubMed:25898167). May play a role in cell proliferation (PubMed:15381421). {ECO:0000250|UniProtKB:Q9CWG9, ECO:0000269|PubMed:15102850, ECO:0000269|PubMed:15381421, ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:25898167}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|BLOC1 2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|platelet dense granule organization|
|BORC complex|
|mitochondrial outer membrane permeabilization|
|gamma-tubulin complex|
|synaptic vesicle transport along microtubule|
|synaptic vesicle cytoskeletal transport|
|anterograde synaptic vesicle transport|
|positive regulation of mitochondrial membrane permeability involved in apoptotic process|
|BLOC-1 complex|
|mitochondrial outer membrane permeabilization involved in programmed cell death|
|positive regulation of mitochondrial membrane permeability|
|positive regulation of membrane permeability|
|regulation of mitochondrial membrane permeability involved in apoptotic process|
|melanosome organization|
|pigment granule organization|
|gamma-tubulin binding|
|extrinsic apoptotic signaling pathway via death domain receptors|
|secretory granule organization|
|synaptic vesicle transport|
|synaptic vesicle localization|
|vesicle transport along microtubule|
|anterograde axonal transport|
|lysosome localization|
|cellular pigmentation|
|vesicle cytoskeletal trafficking|
|axonal transport|
|axon cytoplasm|
|apoptotic mitochondrial changes|
|axo-dendritic transport|
|regulation of mitochondrial membrane permeability|
|organelle transport along microtubule|
|regulation of membrane permeability|
|pigmentation|
|extrinsic apoptotic signaling pathway|
|mitochondrial membrane organization|
|transport along microtubule|
|establishment of vesicle localization|
|cytoskeleton-dependent intracellular transport|
|microtubule-based transport|
|vesicle localization|
|mitochondrial transport|
|endosomal transport|
|microtubule-based movement|
|apoptotic signaling pathway|
|vesicle organization|
|lysosomal membrane|
|establishment of organelle localization|
|endomembrane system organization|
|mitochondrion organization|
|organelle localization|
|neuron projection development|
|microtubule-based process|
|neuron development|
|membrane organization|
|apoptotic process|
|neuron differentiation|
|programmed cell death|
|cell death|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|mitochondrion|
|intracellular transport|
|generation of neurons|
|movement of cell or subcellular component|
|neurogenesis|
|cell development|
|establishment of localization in cell|
|vesicle-mediated transport|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp222|Betulinic acid 10 to 15μM on day4 R05 exp222]]|-1.83|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 10351
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.98 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BLOC1S2 Expression in NALM6 Cells: 4.98'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>