APPL2

Gene Information

Official Symbol: APPL2
Official Name: adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Aliases and Previous Symbols: N/A
Entrez ID: 55198
UniProt: Q8NEU8
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics 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

Essentiality in NALM6

Essentiality Rank: 4932
Expression level (log2 read counts): 4.21

Expression Distribution

PH
PID

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