APPL2 [The Human Chemical-Genetic Interaction Map Project]

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======= APPL2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: APPL2
  * **<color #00a2e8>Official Name</color>**: adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55198|55198]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8NEU8|Q8NEU8]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=APPL2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20APPL2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606231|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction. {ECO:0000269|PubMed:15016378}.

<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'>
|PH|
|PID|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of macropinocytosis|
|early phagosome membrane|
|regulation of macropinocytosis|
|cold acclimation|
|positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis|
|positive regulation of pinocytosis|
|regulation of Fc-gamma receptor signaling pathway involved in phagocytosis|
|adiponectin-activated signaling pathway|
|positive regulation of Fc receptor mediated stimulatory signaling pathway|
|macropinosome|
|negative regulation of fatty acid oxidation|
|early phagosome|
|regulation of pinocytosis|
|negative regulation of glucose import|
|regulation of Fc receptor mediated stimulatory signaling pathway|
|diet induced thermogenesis|
|positive regulation of membrane invagination|
|positive regulation of phagocytosis, engulfment|
|regulation of phagocytosis, engulfment|
|regulation of membrane invagination|
|cellular response to hepatocyte growth factor stimulus|
|negative regulation of cytokine production involved in inflammatory response|
|negative regulation of glucose transmembrane transport|
|response to hepatocyte growth factor|
|adaptive thermogenesis|
|regulation of toll-like receptor 4 signaling pathway|
|negative regulation of neural precursor cell proliferation|
|negative regulation of fatty acid metabolic process|
|response to dietary excess|
|regulation of fatty acid oxidation|
|regulation of fibroblast migration|
|negative regulation of cellular response to insulin stimulus|
|regulation of cytokine production involved in inflammatory response|
|response to cold|
|regulation of glucose import|
|phosphatidylserine binding|
|regulation of toll-like receptor signaling pathway|
|positive regulation of phagocytosis|
|regulation of cellular response to insulin stimulus|
|regulation of glucose transmembrane transport|
|negative regulation of lipid metabolic process|
|regulation of fatty acid metabolic process|
|phosphatidylinositol binding|
|regulation of neural precursor cell proliferation|
|negative regulation of small molecule metabolic process|
|protein homotetramerization|
|ruffle|
|ruffle membrane|
|regulation of phagocytosis|
|protein import into nucleus|
|positive regulation of cold-induced thermogenesis|
|positive regulation of endocytosis|
|transforming growth factor beta receptor signaling pathway|
|import into nucleus|
|negative regulation of transmembrane transport|
|negative regulation of inflammatory response|
|vesicle|
|protein import|
|regulation of cold-induced thermogenesis|
|protein tetramerization|
|early endosome membrane|
|cellular response to transforming growth factor beta stimulus|
|response to transforming growth factor beta|
|protein localization to nucleus|
|hormone-mediated signaling pathway|
|regulation of cellular ketone metabolic process|
|response to temperature stimulus|
|glucose homeostasis|
|carbohydrate homeostasis|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|regulation of endocytosis|
|negative regulation of defense response|
|endosome membrane|
|positive regulation of immune effector process|
|cytoplasmic vesicle|
|nucleocytoplasmic transport|
|protein-containing complex binding|
|nuclear transport|
|endosome|
|negative regulation of cytokine production|
|negative regulation of neurogenesis|
|negative regulation of nervous system development|
|negative regulation of cell development|
|regulation of inflammatory response|
|protein homooligomerization|
|negative regulation of response to external stimulus|
|regulation of lipid metabolic process|
|regulation of small molecule metabolic process|
|establishment of protein localization to organelle|
|regulation of innate immune response|
|regulation of immune effector process|
|negative regulation of transport|
|response to nutrient levels|
|cellular response to growth factor stimulus|
|protein complex oligomerization|
|regulation of response to biotic stimulus|
|response to extracellular stimulus|
|response to growth factor|
|regulation of vesicle-mediated transport|
|cell population proliferation|
|regulation of transmembrane transport|
|cellular response to hormone stimulus|
|cytokine-mediated signaling pathway|
|negative regulation of cell population proliferation|
|regulation of cytokine production|
|negative regulation of cell differentiation|
|enzyme linked receptor protein signaling pathway|
|protein localization to organelle|
|regulation of defense response|
|regulation of multi-organism process|
|regulation of neurogenesis|
|regulation of cell migration|
|positive regulation of immune response|
|protein homodimerization activity|
|response to hormone|
|regulation of cell motility|
|regulation of nervous system development|
|regulation of cell development|
|negative regulation of developmental process|
|regulation of locomotion|
|positive regulation of transport|
|intracellular protein transport|
|regulation of cellular component movement|
|cellular response to cytokine stimulus|
|regulation of response to external stimulus|
|response to cytokine|
|chemical homeostasis|
|positive regulation of immune system process|
|regulation of immune response|
|response to abiotic stimulus|
|negative regulation of multicellular organismal process|
|positive regulation of cellular component organization|
|cellular response to endogenous stimulus|
|cell cycle|
|response to endogenous stimulus|
|regulation of response to stress|
|protein transport|
|intracellular transport|
|generation of neurons|
|peptide transport|
|protein-containing complex assembly|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|regulation of cell population proliferation|
|negative regulation of response to stimulus|
|neurogenesis|
|homeostatic process|
|regulation of immune system process|
|positive regulation of signal transduction|
|positive regulation of multicellular organismal process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|establishment of localization in cell|
|nitrogen compound transport|
|protein-containing complex subunit organization|
|regulation of transport|
|membrane|
</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: 0/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 4932
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.21 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='APPL2 Expression in NALM6 Cells: 4.21'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>