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.

The following transcription factors affect gene expression:

• PPAR-gamma1
• PPAR-gamma2
• RORalpha2
• NRF-2
• AREB6
• Pax-5
• c-Ets-1
• MIF-1

Tissue specificity:

High levels in brain, heart, kidney and skeletal muscle.

Molecular Function:

• Dna Binding
• Serine-Type Endopeptidase Inhibitor Activity
• Heparin Binding
• Transition Metal Ion Binding

Biological Processes:

• Platelet Degranulation
• Cell Cycle
• Signal Transduction
• G-Protein Coupled Receptor Signaling Pathway
• Cell Proliferation