PNPLA2 [The Human Chemical-Genetic Interaction Map Project]

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======= PNPLA2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PNPLA2
  * **<color #00a2e8>Official Name</color>**: patatin like phospholipase domain containing 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57104|57104]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96AD5|Q96AD5]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PNPLA2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PNPLA2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609059|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets (PubMed:15550674). Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes (PubMed:16239926). May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion. {ECO:0000269|PubMed:15364929, ECO:0000269|PubMed:15550674, ECO:0000269|PubMed:16239926}.

<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'>
|Patatin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of sequestering of triglyceride|
|positive regulation of triglyceride catabolic process|
|acylglycerol acyl-chain remodeling|
|regulation of sequestering of triglyceride|
|regulation of triglyceride catabolic process|
|positive regulation of triglyceride metabolic process|
|negative regulation of lipid storage|
|lipid droplet organization|
|triglyceride lipase activity|
|positive regulation of lipid catabolic process|
|triglyceride catabolic process|
|lipid storage|
|acylglycerol catabolic process|
|regulation of triglyceride metabolic process|
|neutral lipid catabolic process|
|negative regulation of lipid localization|
|regulation of lipid storage|
|glycerolipid catabolic process|
|regulation of lipid catabolic process|
|triglyceride metabolic process|
|lipid droplet|
|acylglycerol metabolic process|
|neutral lipid metabolic process|
|lipid homeostasis|
|regulation of lipid localization|
|positive regulation of lipid metabolic process|
|maintenance of location|
|cellular lipid catabolic process|
|lipid catabolic process|
|endoplasmic reticulum lumen|
|lipid localization|
|post-translational protein modification|
|positive regulation of cellular catabolic process|
|glycerolipid metabolic process|
|regulation of lipid metabolic process|
|positive regulation of catabolic process|
|regulation of cellular catabolic process|
|endoplasmic reticulum membrane|
|cellular lipid metabolic process|
|regulation of catabolic process|
|chemical homeostasis|
|lipid metabolic process|
|homeostatic process|
|organic substance catabolic process|
|cellular catabolic process|
|membrane|
</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:exp456|Benzoate 20000μM R08 exp456]]|-2.12|
|[[:results:exp34|Rotenone 20μM R00 exp34]]|-1.84|
|[[:results:exp227|Cryptotanshinone 12μM R05 exp227]]|-1.71|
|[[:results:exp536|Vitamin-D3 40μM R08 exp536]]|1.81|
|[[:results:exp380|NMS-873 0.07μM R07 exp380]]|1.9|
|[[:results:exp518|RK-33 8μM R08 exp518]]|2.88|
</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>**: 7807
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.93 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PNPLA2 Expression in NALM6 Cells: 5.93'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>