Version 5.4
Homo sapiens Gene: APPL2
Summary
InnateDB Gene IDBG-54652.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APPL2
Gene Name adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000136044
Encoded Proteins
IDBP-54654
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
IDBP-598268
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
IDBP-598496
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
IDBP-597443
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
IDBP-602812
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
IDBP-593030
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
IDBP-600029
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
IDBP-599547
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
IDBP-588203
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:105173296-105236238
Strand Reverse strand
Band q23.3
Transcripts
ENST00000258530 ENSP00000258530
ENST00000547439 ENSP00000449410
ENST00000539978 ENSP00000444472
ENST00000547790
ENST00000546731 ENSP00000447828
ENST00000551662 ENSP00000446917
ENST00000553109 ENSP00000446510
ENST00000548425
ENST00000547809
ENST00000552945
ENST00000549573
ENST00000549974 ENSP00000448569
ENST00000550648
ENST00000546768
ENST00000553097 ENSP00000449767
ENST00000549056 ENSP00000447520
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007049 cell cycle
GO:0007165 signal transduction
GO:0008283 cell proliferation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0010008 endosome membrane
GO:0016581 NuRD complex
GO:0031901 early endosome membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020263
View Gene Order
ENSBTAG00000030784
Not yet available
Pathways
NETPATH
NetPath_4
EGFR1 pathway
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001251904 NM_001251905 NM_018171 XM_005269001
HUGO
OMIM
CCDS CCDS58275 CCDS58276 CCDS9101
HPRD 06945
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca