The Function of APPL2
Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction.
Protein names
Recommended name:
Amyloid-like protein 2Short name:
APPHAlternative name(s):
APLP-2Amyloid protein homolog
CDEI box-binding protein
CDEBP
- RS2272495 (APPL2) ??
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Top Gene-Substance Interactions
APPL2 Interacts with These Diseases
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Substances That Increase APPL2
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Substances That Decrease APPL2
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Advanced Summary
From UniProt: A chromosomal aberration involving APPL2/DIP13B is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2 (PubMed:11431708).
From NCBI 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] From UniProt: Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
High levels in brain, heart, kidney and skeletal muscle.
Molecular Function:
- Dna Binding
- Heparin Binding
- Serine-Type Endopeptidase Inhibitor Activity
- Transition Metal Ion Binding
Biological Processes:
- Cell Cycle
- Cell Proliferation
- Signal Transduction
- G-Protein Coupled Receptor Signaling Pathway
- Platelet Degranulation