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  3. APPL2

APPL2 (Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2)

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The Function of APPL2

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

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Protein names

Recommended name:

Amyloid-like protein 2

Short name:

APPH

Alternative name(s):

APLP-2
Amyloid protein homolog
CDEI box-binding protein
CDEBP

APPL2 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS2272495 (APPL2) ??

Top Gene-Substance Interactions

APPL2 Interacts with These Diseases

Disease Score

Substances That Increase APPL2

Substances Interaction Organism Category

Substances That Decrease APPL2

Substances Interaction Organism Category

Advanced Summary

     From UniProt: 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 (PubMed:11431708).

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

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha2
  • NRF-2
  • AREB6
  • Pax-5
  • c-Ets-1
  • MIF-1

Tissue specificity:

High levels in brain, heart, kidney and skeletal muscle.

Molecular Function:

  • Dna Binding
  • Heparin Binding
  • Serine-Type Endopeptidase Inhibitor Activity
  • Transition Metal Ion Binding

Biological Processes:

  • Cell Cycle
  • Cell Proliferation
  • Signal Transduction
  • G-Protein Coupled Receptor Signaling Pathway
  • Platelet Degranulation
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| A306_06441| adapter protein containing PH domain, PTB domain and leucine zipper motif 2| adaptor protein, phosphotyrosine interaction, PH domain and leuc| adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2| amyloid beta (A4) precursor-like protein 2| Anapl_14110| APLP2| AS27_12526| AS28_09186| CB1_002317005| D623_10020426| DCC-interacting protein 13-beta| DCC-interacting protein 13-beta-like protein| dip13b| dip13-beta| DIP13 beta| Dip3b| Dip3 beta| I79_016547| M91_11816| M959_14034| MDA_GLEAN10021910| N300_08627| N301_16771| N302_12635| N303_09360| N305_09332| N306_06422| N307_13934| N308_00481| N309_13661| N310_04447| N311_01783| N312_04105| N320_00304| N321_13824| N322_06529| N324_04322| N325_03350| N326_07696| N327_13804| N328_01185| N329_02612| N330_13834| N331_11471| N332_14253| N333_01947| N334_11753| N335_02763| N339_01725| N340_10320| N341_06560| PAL_GLEAN10015455| PANDA_003524| RGD1563028| TREES_T100002496| UY3_12987| Y1Q_025115| Y956_15173| Z169_02892| appl2

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