Free for academic non-profit institutions. Other users need a Commercial license

Aliases for APPL2 Gene

Aliases for APPL2 Gene

  • Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine Zipper Containing 2 2 3
  • Adapter Protein Containing PH Domain, PTB Domain And Leucine Zipper Motif 2 3 4
  • DIP13B 3 4
  • DCC-Interacting Protein 13-Beta 3
  • DIP13 Beta 3
  • Dip13-Beta 4
  • FLJ10659 6

External Ids for APPL2 Gene

Summaries for APPL2 Gene

Entrez Gene Summary for 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]

GeneCards Summary for APPL2 Gene

APPL2 (Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine Zipper Containing 2) is a Protein Coding gene. Diseases associated with APPL2 include phelan-mcdermid syndrome. Among its related pathways are EGFR1 Signaling Pathway. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is APPL1.

UniProtKB/Swiss-Prot for APPL2 Gene

  • Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction.

Gene Wiki entry for APPL2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APPL2 Gene

Genomics for APPL2 Gene

Genomic Location for APPL2 Gene

Start:
105,173,296 bp from pter
End:
105,236,238 bp from pter
Size:
62,943 bases
Orientation:
Minus strand

Genomic View for APPL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APPL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APPL2 Gene

Regulatory Elements for APPL2 Gene

Proteins for APPL2 Gene

  • Protein details for APPL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEU8-DP13B_HUMAN
    Recommended name:
    DCC-interacting protein 13-beta
    Protein Accession:
    Q8NEU8
    Secondary Accessions:
    • B7Z411
    • B7Z4B0
    • F5GZG0
    • F8W1P5
    • Q8N4R7
    • Q9NVL2

    Protein attributes for APPL2 Gene

    Size:
    664 amino acids
    Molecular mass:
    74493 Da
    Quaternary structure:
    • Binds RAB5A/Rab5 through an N-terminal domain. This interaction is essential for its recruitment to endosomal membranes as well as its role in cell proliferation. Binds subunits of the NuRD/MeCP1 complex

    Three dimensional structures from OCA and Proteopedia for APPL2 Gene

    Alternative splice isoforms for APPL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APPL2 Gene

Proteomics data for APPL2 Gene at MOPED

Post-translational modifications for APPL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for APPL2 Gene

Domains for APPL2 Gene

Gene Families for APPL2 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

Protein Domains for APPL2 Gene

UniProtKB/Swiss-Prot:

DP13B_HUMAN
Domain:
  • Contains 1 PH domain.:
    • Q8NEU8
  • Contains 1 PID domain.:
    • Q8NEU8
genes like me logo Genes that share domains with APPL2: view

Function for APPL2 Gene

Molecular function for APPL2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for APPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15016378
genes like me logo Genes that share ontologies with APPL2: view

Phenotypes for APPL2 Gene

genes like me logo Genes that share phenotypes with APPL2: view

miRNA for APPL2 Gene

miRTarBase miRNAs that target APPL2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for APPL2 Gene

Localization for APPL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APPL2 Gene

Early endosome membrane; Peripheral membrane protein. Nucleus. Note=Early endosomal membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following internalization of EGF.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APPL2 Gene COMPARTMENTS Subcellular localization image for APPL2 gene
Compartment Confidence
endosome 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for APPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15016378
GO:0005737 cytoplasm IC 15016378
GO:0010008 endosome membrane IDA 15016378
GO:0016581 colocalizes_with NuRD complex IDA 15016378
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with APPL2: view

Pathways for APPL2 Gene

SuperPathways for APPL2 Gene

Superpath Contained pathways
1 EGFR1 Signaling Pathway
genes like me logo Genes that share pathways with APPL2: view

Pathways by source for APPL2 Gene

1 BioSystems pathway for APPL2 Gene

Gene Ontology (GO) - Biological Process for APPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007165 signal transduction TAS 15016378
GO:0008283 cell proliferation IDA 15016378
genes like me logo Genes that share ontologies with APPL2: view

Transcripts for APPL2 Gene

Unigene Clusters for APPL2 Gene

Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for APPL2 Gene

No ASD Table

Relevant External Links for APPL2 Gene

GeneLoc Exon Structure for
APPL2
ECgene alternative splicing isoforms for
APPL2

Expression for APPL2 Gene

mRNA expression in normal human tissues for APPL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for APPL2 Gene

SOURCE GeneReport for Unigene cluster for APPL2 Gene Hs.506603

mRNA Expression by UniProt/SwissProt for APPL2 Gene

Q8NEU8-DP13B_HUMAN
Tissue specificity: High levels in brain, heart, kidney and skeletal muscle.
genes like me logo Genes that share expressions with APPL2: view

Orthologs for APPL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APPL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APPL2 36
  • 99.6 (n)
  • 99.7 (a)
APPL2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APPL2 36
  • 91.34 (n)
  • 93.66 (a)
APPL2 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APPL2 36
  • 89.68 (n)
  • 94.11 (a)
APPL2 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Appl2 36
  • 87.92 (n)
  • 92.75 (a)
Appl2 16
Appl2 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APPL2 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APPL2 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Appl2 36
  • 87.31 (n)
  • 92.45 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 86 (a)
OneToMany
-- 37
  • 79 (a)
OneToMany
APPL2 36
  • 77.25 (n)
  • 84.35 (a)
lizard
(Anolis carolinensis)
Reptilia APPL2 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia appl2 36
  • 72.21 (n)
  • 76.31 (a)
zebrafish
(Danio rerio)
Actinopterygii appl2 36
  • 66.72 (n)
  • 70.84 (a)
appl2 37
  • 69 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 39 (a)
OneToMany
Species with no ortholog for APPL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APPL2 Gene

ENSEMBL:
Gene Tree for APPL2 (if available)
TreeFam:
Gene Tree for APPL2 (if available)

Paralogs for APPL2 Gene

Paralogs for APPL2 Gene

Selected SIMAP similar genes for APPL2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with APPL2: view

Variants for APPL2 Gene

Sequence variations from dbSNP and Humsavar for APPL2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs8015 -- 105,173,353(-) CAACA(A/C/G)ACTAT utr-variant-3-prime
rs9143 -- 105,173,833(-) TCTCA(C/T)AATTG utr-variant-3-prime
rs10071 -- 105,173,794(-) GGTGA(C/T)GAGCA utr-variant-3-prime
rs703683 -- 105,173,357(-) AGTTC(A/G)ACAGA utr-variant-3-prime
rs727888 -- 105,224,229(+) TCAGT(C/G)CCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for APPL2 Gene

Variant ID Type Subtype PubMed ID
nsv832506 CNV Gain 17160897
nsv899499 CNV Loss 21882294

Relevant External Links for APPL2 Gene

HapMap Linkage Disequilibrium report
APPL2
Human Gene Mutation Database (HGMD)
APPL2

Disorders for APPL2 Gene

UniProtKB/Swiss-Prot

DP13B_HUMAN
  • Note=A chromosomal aberration involving APPL2/DIP13B is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2.

(1) MalaCards Diseases for APPL2 Gene

Search for APPL2 Gene in MalaCards »
genes like me logo Genes that share disorders with APPL2: view

Publications for APPL2 Gene

  1. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. (PMID: 11431708) Bonaglia M.C. … Zuffardi O. (Am. J. Hum. Genet. 2001) 2 3 4 23
  2. APPL1, APPL2, Akt2 and FOXO1a interact with FSHR in a potential signaling complex. (PMID: 17030088) Nechamen C.A. … Dias J.A. (Mol. Cell. Endocrinol. 2007) 2 3 23
  3. Endosomal adaptor proteins APPL1 and APPL2 are novel activators of beta-catenin/TCF-mediated transcription. (PMID: 19433865) Rashid S. … Miaczynska M. (J. Biol. Chem. 2009) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment. (PMID: 15016378) Miaczynska M. … Zerial M. (Cell 2004) 3 4

Products for APPL2 Gene

Sources for APPL2 Gene

Back to Top

Content