APPL2

Also known as DIP13B, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2

DCC-interacting protein 13-beta is a protein that in humans is encoded by the APPL2 gene.

Gene data

APPL2

Name: adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Type: protein-coding
Position: 105,172,485–105,236,221 (−)
Aliases: DIP13B
Ensembl: ENSG00000136044
RefSeq RNA: NM_001251904.2, NM_001251905.2, NM_018171.5, XM_006719472.2, XM_011538530.4
RefSeq protein: NP_001238833.1, NP_001238834.1, NP_060641.2, XP_006719535.1, XP_011536832.1

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].