Symbol: Name: ID: |
APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 GFS:7115 |
Gene name: | APPL2 |
Chromosome: | 12q24.1 |
Previous Symbols: | |
Previous Names: | |
Aliases: | FLJ10659, DIP13B |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2384914 | Rat Genome Database ID: | RGD:1563028 |
HGNC ID: | HGNC:18242 | RefSeq IDs: | NM_018171 |
Entrez Gene ID: | 55198 | Ensembl Gene ID: | ENSG00000136044 |
VEGA IDs: | UniProt ID: | Q8NEU8 | |
UCSC ID: | uc001tlf.1 | OMIM ID: | 606231 |
Pubmed: | PMID11431708 PMID 17030088 | ||
CCDS IDs: | CCDSCCDS9101.1 |
DCC-interacting protein 13-beta is a protein that in humans is encoded by the 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].
Function: Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction.
Products for APPL2 gene
Catalog | Product Name | Application | Company |
GFS:E07115 | adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2; ELISA kit | ELISA | n/a |
GFS:A07115 | adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2; Anti | ANTIBODIES | n/a |
GFS:P07115 | adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2; Protien | Protien | n/a |