======= BSCL2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BSCL2
  * **<color #00a2e8>Official Name</color>**: BSCL2 lipid droplet biogenesis associated, seipin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=26580|26580]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96G97|Q96G97]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BSCL2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BSCL2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606158|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues. {ECO:0000250, ECO:0000269|PubMed:19278620, ECO:0000269|PubMed:21533227}.

<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'>
|Seipin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|lipid droplet organization|
|negative regulation of lipid catabolic process|
|lipid storage|
|regulation of lipid catabolic process|
|negative regulation of lipid metabolic process|
|positive regulation of cold-induced thermogenesis|
|fat cell differentiation|
|integral component of endoplasmic reticulum membrane|
|regulation of cold-induced thermogenesis|
|maintenance of location|
|lipid catabolic process|
|negative regulation of catabolic process|
|lipid localization|
|regulation of lipid metabolic process|
|molecular function|
|regulation of catabolic process|
|lipid metabolic process|
|positive regulation of multicellular organismal process|
|organic substance catabolic process|
</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:exp84|UM0125461 0.74μM R02 exp84]]|-2.65|
|[[:results:exp233|EPZ-5676 30μM R05 exp233]]|1.78|
|[[:results:exp460|BML-284 0.09μM R08 exp460]]|2.07|
|[[:results:exp334|All-trans-Retinoic-Acid 40μM R07 exp334]]|2.23|
</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: 1/739
^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|1/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 3731
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.28 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BSCL2 Expression in NALM6 Cells: 4.28'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>