APPL2
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
Synonyms:
DIP13B
Species:
Human APPL2 (55198), Mouse Appl2 (216190), Rat Appl2 (362860), dog APPL2 (481297), domestic guinea pig Appl2 (100717140), Zebrafish appl2 (100000135), cow APPL2 (515605), domestic cat APPL2 (101089119), cow APPL2 (788375), naked mole-rat Appl2 (101696710) ...More
UniProtKB ID:
Gene ID:
- Human(55198) 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]
- Mouse(216190) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
- Rat(362860) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
- dog(481297) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
- domestic guinea pig(100717140) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
- Zebrafish(100000135) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
- cow(515605) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
- domestic cat(101089119) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
- cow(788375) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2-like
- naked mole-rat(101696710) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
- sheep(101114693) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
- chicken(418075) adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
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