======= GBA2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GBA2
  * **<color #00a2e8>Official Name</color>**: glucosylceramidase beta 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57704|57704]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9HCG7|Q9HCG7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GBA2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GBA2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609471|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons. {ECO:0000269|PubMed:17105727, ECO:0000269|PubMed:23332916}.

<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'>
|GBA2 N|
|DUF608|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|steryl-beta-glucosidase activity|
|glucosylceramidase activity|
|glucosylceramide catabolic process|
|extrinsic component of Golgi membrane|
|beta-glucosidase activity|
|glucosyltransferase activity|
|extrinsic component of endoplasmic reticulum membrane|
|glucosylceramide metabolic process|
|glycosylceramide catabolic process|
|glycoside catabolic process|
|lipid glycosylation|
|glycosphingolipid catabolic process|
|glycolipid catabolic process|
|glycosylceramide metabolic process|
|ceramide catabolic process|
|glycoside metabolic process|
|smooth endoplasmic reticulum|
|sphingolipid catabolic process|
|membrane lipid catabolic process|
|bile acid metabolic process|
|glycosyl compound catabolic process|
|regulation of membrane lipid distribution|
|regulation of microtubule polymerization|
|glycosphingolipid metabolic process|
|extrinsic component of membrane|
|central nervous system neuron development|
|regulation of microtubule polymerization or depolymerization|
|ceramide metabolic process|
|glycolipid metabolic process|
|liposaccharide metabolic process|
|cholesterol metabolic process|
|secondary alcohol metabolic process|
|glycosyl compound metabolic process|
|sterol metabolic process|
|sphingolipid metabolic process|
|regulation of actin filament polymerization|
|central nervous system neuron differentiation|
|regulation of actin polymerization or depolymerization|
|regulation of actin filament length|
|regulation of microtubule cytoskeleton organization|
|carbohydrate derivative catabolic process|
|cellular lipid catabolic process|
|lipid modification|
|membrane lipid metabolic process|
|regulation of microtubule-based process|
|regulation of protein polymerization|
|steroid metabolic process|
|regulation of actin filament organization|
|glycosylation|
|lipid catabolic process|
|alcohol metabolic process|
|regulation of actin cytoskeleton organization|
|regulation of supramolecular fiber organization|
|regulation of cellular component size|
|regulation of actin filament-based process|
|regulation of protein complex assembly|
|organic hydroxy compound metabolic process|
|regulation of anatomical structure size|
|monocarboxylic acid metabolic process|
|regulation of cytoskeleton organization|
|cellular amide metabolic process|
|neuron development|
|membrane organization|
|carboxylic acid metabolic process|
|cellular lipid metabolic process|
|regulation of cellular component biogenesis|
|central nervous system development|
|oxoacid metabolic process|
|neuron differentiation|
|organic acid metabolic process|
|carbohydrate derivative metabolic process|
|organonitrogen compound catabolic process|
|lipid metabolic process|
|regulation of organelle organization|
|generation of neurons|
|neurogenesis|
|cell development|
|small molecule metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 12439
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.71 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GBA2 Expression in NALM6 Cells: 5.71'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>