ALS2 [The Human Chemical-Genetic Interaction Map Project]

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======= ALS2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ALS2
  * **<color #00a2e8>Official Name</color>**: alsin Rho guanine nucleotide exchange factor ALS2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57679|57679]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96Q42|Q96Q42]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ALS2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ALS2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606352|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|RhoGEF|
|MORN|
|VPS9|
|RCC1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of Rac protein signal transduction|
|regulation of endosome size|
|receptor recycling|
|regulation of Rac protein signal transduction|
|Rac guanyl-nucleotide exchange factor activity|
|Rac protein signal transduction|
|synaptic transmission, glutamatergic|
|protein serine/threonine kinase activator activity|
|behavioral fear response|
|behavioral defense response|
|fear response|
|Rab guanyl-nucleotide exchange factor activity|
|neuromuscular junction development|
|positive regulation of Ras protein signal transduction|
|multicellular organismal response to stress|
|positive regulation of small GTPase mediated signal transduction|
|endosome organization|
|ruffle|
|guanyl-nucleotide exchange factor activity|
|receptor metabolic process|
|growth cone|
|vesicle|
|regulation of Rho protein signal transduction|
|dendritic spine|
|Rab GTPase binding|
|lamellipodium|
|locomotory behavior|
|endosomal transport|
|regulation of Ras protein signal transduction|
|Ras protein signal transduction|
|postsynaptic density|
|early endosome|
|synapse organization|
|vesicle organization|
|small GTPase mediated signal transduction|
|positive regulation of protein serine/threonine kinase activity|
|regulation of small GTPase mediated signal transduction|
|neuronal cell body|
|axonogenesis|
|regulation of cellular component size|
|in utero embryonic development|
|response to oxidative stress|
|axon development|
|positive regulation of GTPase activity|
|endomembrane system organization|
|dendrite|
|chemical synaptic transmission|
|anterograde trans-synaptic signaling|
|cell morphogenesis involved in neuron differentiation|
|trans-synaptic signaling|
|synaptic signaling|
|neuron projection morphogenesis|
|regulation of GTPase activity|
|plasma membrane bounded cell projection morphogenesis|
|cell projection morphogenesis|
|centrosome|
|cell part morphogenesis|
|regulation of anatomical structure size|
|regulation of protein serine/threonine kinase activity|
|positive regulation of protein kinase activity|
|cell morphogenesis involved in differentiation|
|behavior|
|positive regulation of kinase activity|
|protein-containing complex|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|positive regulation of transferase activity|
|neuron projection development|
|intracellular membrane-bounded organelle|
|cell morphogenesis|
|positive regulation of hydrolase activity|
|regulation of protein kinase activity|
|neuron development|
|cellular component morphogenesis|
|regulation of kinase activity|
|protein homodimerization activity|
|regulation of transferase activity|
|embryo development|
|neuron differentiation|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|positive regulation of phosphorylation|
|cell death|
|cell-cell signaling|
|plasma membrane bounded cell projection organization|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|cell projection organization|
|positive regulation of protein modification process|
|regulation of hydrolase activity|
|defense response|
|positive regulation of catalytic activity|
|regulation of protein phosphorylation|
|intracellular transport|
|generation of neurons|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|neurogenesis|
|cell development|
|positive regulation of signal transduction|
|intracellular signal transduction|
|positive regulation of protein metabolic process|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|regulation of protein modification process|
|vesicle-mediated transport|
|membrane|
</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:exp455|Benzoate 10000μM R08 exp455]]|-1.75|
|[[:results:exp125|GSK461364A 0.005μM R03 exp125]]|1.81|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.422|
</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>**: 5503
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.03 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ALS2 Expression in NALM6 Cells: 5.03'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>