help  | about  | cite  | software

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:
  • NM_018171,
  • uc001tlf.2,
  • adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2,
  • DIP13B,
  • OTTHUMG00000169853,
  • APPL2,
  • FLJ10659,
  • DIP13B,
  • DCC-interacting protein 13-beta,
  • HGNC:18242,
  • AY113704
  • identifiers:
  • 55198,
  • ENSG00000136044,
  • APPL2

Genome feature

Region: gene ? Length: 62934  
Location: 12:105173297-105236230 reverse strand Cyto location: 12q23.3


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

2011 SN Ps

5 Cross References

16 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results