EXT2 [The Human Chemical-Genetic Interaction Map Project]

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======= EXT2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EXT2
  * **<color #00a2e8>Official Name</color>**: exostosin glycosyltransferase 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2132|2132]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q93063|Q93063]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EXT2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EXT2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608210|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). {ECO:0000269|PubMed:22660413}.

<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'>
|Glyco transf 64|
|Exostosin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|
|UDP-N-acetylglucosamine transferase complex|
|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|
|heparan sulfate N-acetylglucosaminyltransferase activity|
|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|
|transferase activity, transferring glycosyl groups|
|acetylglucosaminyltransferase activity|
|glucuronosyltransferase activity|
|heparan sulfate proteoglycan biosynthetic process|
|heparan sulfate proteoglycan metabolic process|
|cellular polysaccharide biosynthetic process|
|polysaccharide biosynthetic process|
|cellular carbohydrate biosynthetic process|
|mesoderm formation|
|proteoglycan biosynthetic process|
|mesoderm morphogenesis|
|cellular polysaccharide metabolic process|
|polysaccharide metabolic process|
|proteoglycan metabolic process|
|glycosaminoglycan biosynthetic process|
|aminoglycan biosynthetic process|
|formation of primary germ layer|
|mesoderm development|
|carbohydrate biosynthetic process|
|glycosaminoglycan metabolic process|
|gastrulation|
|aminoglycan metabolic process|
|cellular carbohydrate metabolic process|
|protein glycosylation|
|macromolecule glycosylation|
|ossification|
|glycosylation|
|glycoprotein biosynthetic process|
|glycoprotein metabolic process|
|carbohydrate metabolic process|
|protein heterodimerization activity|
|tissue morphogenesis|
|embryonic morphogenesis|
|carbohydrate derivative biosynthetic process|
|Golgi membrane|
|protein homodimerization activity|
|anatomical structure formation involved in morphogenesis|
|endoplasmic reticulum membrane|
|embryo development|
|Golgi apparatus|
|endoplasmic reticulum|
|carbohydrate derivative metabolic process|
|organonitrogen compound biosynthetic process|
|cellular macromolecule biosynthetic process|
|tissue development|
|macromolecule biosynthetic 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:exp14|Cycloheximide 0.02μM R00 exp14]]|2.53|
</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: 3/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|1/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|1/56|
|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|1/15|
|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>**: 9953
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.18 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EXT2 Expression in NALM6 Cells: 6.18'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>