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Gene : APPL2 Homo sapiens

Name  ? adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 Cytological Location  12q23.3
Brief Description  adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Description  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]
  • synonyms:
  • APPL2,
  • DCC-interacting protein 13-beta,
  • NM_018171,
  • adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2,
  • HGNC:18242,
  • AY113704,
  • OTTHUMG00000169853,
  • DIP13B,
  • FLJ10659,
  • uc001tlf.2,
  • DIP13B
  • identifiers:
  • 55198,
  • ENSG00000136044,
  • APPL2

Genome feature

Region: gene ? Length: 62878  
Location: 12:105173297-105236174 reverse strand Cyto location: 12q23.3

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Ontology

Gene --> GO terms.



0 Pathways

3740 SNPs

5 Cross References

16 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results