======= NPC2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NPC2
  * **<color #00a2e8>Official Name</color>**: NPC intracellular cholesterol transporter 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10577|10577]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P61916|P61916]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NPC2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NPC2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601015|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport. {ECO:0000269|PubMed:17018531, ECO:0000269|PubMed:18772377, ECO:0000269|PubMed:18823126}.

<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'>
|E1 DerP2 DerF2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|regulation of isoprenoid metabolic process|
|glycolipid transport|
|sterol binding|
|intracellular cholesterol transport|
|intracellular sterol transport|
|cholesterol transfer activity|
|cholesterol efflux|
|low-density lipoprotein particle clearance|
|intracellular lipid transport|
|plasma lipoprotein particle clearance|
|cholesterol binding|
|cholesterol transport|
|sterol transport|
|carbohydrate derivative transport|
|regulation of plasma lipoprotein particle levels|
|cholesterol homeostasis|
|sterol homeostasis|
|azurophil granule lumen|
|phospholipid transport|
|lysosomal lumen|
|cholesterol metabolic process|
|organophosphate ester transport|
|secondary alcohol metabolic process|
|lipid homeostasis|
|sterol metabolic process|
|organic hydroxy compound transport|
|lysosome|
|steroid metabolic process|
|response to virus|
|lipid transport|
|alcohol metabolic process|
|lipid localization|
|enzyme binding|
|regulation of lipid metabolic process|
|organic hydroxy compound metabolic process|
|organic anion transport|
|neutrophil degranulation|
|neutrophil activation involved in immune response|
|neutrophil mediated immunity|
|neutrophil activation|
|granulocyte activation|
|leukocyte degranulation|
|myeloid leukocyte mediated immunity|
|myeloid cell activation involved in immune response|
|anion transport|
|myeloid leukocyte activation|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|regulated exocytosis|
|leukocyte mediated immunity|
|exocytosis|
|leukocyte activation|
|secretion by cell|
|endoplasmic reticulum|
|export from cell|
|cell activation|
|immune effector process|
|chemical homeostasis|
|secretion|
|lipid metabolic process|
|response to other organism|
|response to external biotic stimulus|
|response to biotic stimulus|
|ion transport|
|intracellular transport|
|extracellular space|
|homeostatic process|
|small molecule metabolic process|
|establishment of localization in cell|
|immune response|
|extracellular region|
|vesicle-mediated transport|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp530|Thioridazine 5μM R08 exp530]]|-2.6|
|[[:results:exp169|BH1 1μM R04 exp169]]|-2.39|
|[[:results:exp256|HMS-I1 10μM R06 exp256]]|-2.29|
|[[:results:exp182|IU1-47 25μM R04 exp182]]|-2.05|
|[[:results:exp246|UM0011500 10μM R05 exp246]]|1.79|
|[[:results:exp135|MS023 7μM R03 exp135]]|1.8|
|[[:results:exp532|TIC10 10μM R08 exp532]]|1.82|
|[[:results:exp245|UM0011500 5μM R05 exp245]]|2.31|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:n:npc1|NPC1]]|0.447|
</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>**: 10562
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.43 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NPC2 Expression in NALM6 Cells: 4.43'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>