APPL2 (NM_001251905) - adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Dcc-Interacting Protein 13-Beta Isoform 3
Legend
Protein
Kinases
Sites
Color corresponds to (the most severe) impact of mutations on given site:
Interactions
If you have any questions or feedback about this protein:
Contact us
PTM Interaction Network Visualisation
Protein 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].
- Strand
- -
- Chromosome
- 12
- Protein
- 621 residues
- All mutations
- 103
- PTM sites
- 8
- CDS
- 105,568,091 - 105,622,926
- Transcription
- 105,567,074 - 105,627,183
Usage summary
Network
PTM site
Kinases group
|
Kinase, PTM site or protein
|