======= ATXN2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ATXN2
  * **<color #00a2e8>Official Name</color>**: ataxin 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6311|6311]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q99700|Q99700]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ATXN2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ATXN2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601517|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. {ECO:0000269|PubMed:18602463}.

<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'>
|PAM2|
|LsmAD|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|regulation of cytoplasmic mRNA processing body assembly|
|negative regulation of receptor internalization|
|cytoplasmic mRNA processing body assembly|
|stress granule assembly|
|negative regulation of receptor-mediated endocytosis|
|epidermal growth factor receptor binding|
|polysome|
|negative regulation of endocytosis|
|regulation of receptor internalization|
|cytoplasmic stress granule|
|regulation of receptor-mediated endocytosis|
|ribonucleoprotein complex|
|trans-Golgi network|
|protein C-terminus binding|
|nucleic acid transport|
|RNA transport|
|establishment of RNA localization|
|regulation of endocytosis|
|RNA localization|
|regulation of organelle assembly|
|ribonucleoprotein complex assembly|
|nucleobase-containing compound transport|
|ribonucleoprotein complex subunit organization|
|regulation of translation|
|regulation of cellular amide metabolic process|
|regulation of protein complex assembly|
|ribonucleoprotein complex biogenesis|
|negative regulation of transport|
|posttranscriptional regulation of gene expression|
|regulation of vesicle-mediated transport|
|perinuclear region of cytoplasm|
|negative regulation of cellular component organization|
|organelle assembly|
|cellular protein-containing complex assembly|
|regulation of cellular component biogenesis|
|Golgi apparatus|
|regulation of organelle organization|
|RNA binding|
|protein-containing complex assembly|
|RNA metabolic process|
|nitrogen compound transport|
|protein-containing complex subunit organization|
|regulation of transport|
|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:exp218|A-395 10μM R05 exp218]]|-2.79|
|[[:results:exp60|Vinblastine 0.002μM R01 exp60]]|-2.08|
|[[:results:exp280|Daidzin 10μM R06 exp280]]|-2.07|
|[[:results:exp243|S-trityl-L-cysteine 0.5μM R05 exp243]]|-2.07|
|[[:results:exp209|Deguelin 0.15μM R05 exp209]]|-2.03|
|[[:results:exp498|Lead acetate 2000μM R08 exp498 no dilution day6]]|-1.9|
|[[:results:exp47|Lapatinib 5μM R01 exp47]]|-1.81|
|[[:results:exp318|ABT-702 5μM R07 exp318]]|-1.77|
|[[:results:exp48|Mubritinib 0.2μM R01 exp48]]|-1.77|
|[[:results:exp354|Diepoxybutane 3μM R07 exp354]]|-1.72|
|[[:results:exp285|GW501516 25μM R06 exp285]]|-1.72|
|[[:results:exp391|Pomalidomide 20μM R07 exp391]]|-1.71|
|[[:results:exp291|LLY-284 2.6μM R06 exp291]]|1.94|
|[[:results:exp236|GSK2606414 1μM R05 exp236]]|2.05|
|[[:results:exp456|Benzoate 20000μM R08 exp456]]|2.56|
</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>**: 8081
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.8 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ATXN2 Expression in NALM6 Cells: 5.8'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>