Aliases for APPL2 Gene
External Ids for APPL2 Gene
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]
GeneCards Summary for APPL2 Gene
APPL2 (Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine Zipper Containing 2) is a Protein Coding gene. Diseases associated with APPL2 include phelan-mcdermid syndrome. Among its related pathways are EGFR1 Signaling Pathway. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is APPL1.
UniProtKB/Swiss-Prot for APPL2 Gene
Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction.