GM2A [The Human Chemical-Genetic Interaction Map Project]

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======= GM2A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GM2A
  * **<color #00a2e8>Official Name</color>**: GM2 ganglioside activator
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2760|2760]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P17900|P17900]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GM2A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GM2A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613109|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. {ECO:0000250}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|beta-N-acetylgalactosaminidase activity|
|sphingolipid activator protein activity|
|ganglioside catabolic process|
|phospholipase activator activity|
|oligosaccharide catabolic process|
|glycosphingolipid catabolic process|
|glycolipid catabolic process|
|ceramide catabolic process|
|ganglioside metabolic process|
|lipid storage|
|lipid transporter activity|
|sphingolipid catabolic process|
|membrane lipid catabolic process|
|oligosaccharide metabolic process|
|neuromuscular process controlling balance|
|cytoplasmic side of plasma membrane|
|glycosphingolipid metabolic process|
|ceramide metabolic process|
|azurophil granule lumen|
|lysosomal lumen|
|neuromuscular process|
|glycolipid metabolic process|
|liposaccharide metabolic process|
|carbohydrate catabolic process|
|sphingolipid metabolic process|
|maintenance of location|
|carbohydrate derivative catabolic process|
|cellular lipid catabolic process|
|basolateral plasma membrane|
|membrane lipid metabolic process|
|learning or memory|
|lipid transport|
|cognition|
|lipid catabolic process|
|apical plasma membrane|
|lipid localization|
|carbohydrate metabolic process|
|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|
|behavior|
|myeloid leukocyte activation|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|regulated exocytosis|
|leukocyte mediated immunity|
|positive regulation of hydrolase activity|
|cellular amide metabolic process|
|exocytosis|
|leukocyte activation|
|cellular lipid metabolic process|
|secretion by cell|
|carbohydrate derivative metabolic process|
|export from cell|
|organonitrogen compound catabolic process|
|cell activation|
|immune effector process|
|secretion|
|lipid metabolic process|
|regulation of hydrolase activity|
|nervous system process|
|positive regulation of catalytic activity|
|organic substance catabolic process|
|positive regulation of molecular function|
|cellular catabolic process|
|immune response|
|extracellular region|
|vesicle-mediated transport|
|system 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>**: 7978
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.99 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GM2A Expression in NALM6 Cells: 5.99'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>