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Aliases for APPL2 Gene

Aliases for APPL2 Gene

  • Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 2 2 3 5
  • DCC-Interacting Protein 13-Beta 2 3 4
  • 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
  • DIP13 Beta 3
  • Dip13-Beta 4

External Ids for APPL2 Gene

Previous GeneCards Identifiers for APPL2 Gene

  • GC12M104091
  • GC12M105568
  • GC12M102626

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 Interacting With PH Domain And Leucine Zipper 2) is a Protein Coding gene. Diseases associated with APPL2 include Phelan-Mcdermid Syndrome. An important paralog of this gene is APPL1.

UniProtKB/Swiss-Prot for APPL2 Gene

  • Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:26583432, PubMed:15016378, PubMed:24879834). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Plays a role in immune response by modulating phagocytosis, inflammatory and innate immune responses. In macrophages, enhances Fc-gamma receptor-mediated phagocytosis through interaction with RAB31 leading to activation of PI3K/Akt signaling. In response to LPS, modulates inflammatory responses by playing a key role on the regulation of TLR4 signaling and in the nuclear translocation of RELA/NF-kappa-B p65 and the secretion of pro- and anti-inflammatory cytokines. Also functions as a negative regulator of innate immune response via inhibition of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Plays a role in endosomal trafficking of TGFBR1 from the endosomes to the nucleus (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting ans insulin signaling pathways and adaptative thermogenesis (PubMed:24879834) (By similarity). In muscle, negatively regulates adiponectin-simulated glucose uptake and fatty acid oxidation by inhibiting adiponectin signaling pathway through APPL1 sequestration thereby antagonizing APPL1 action (By similarity). In muscles, negativeliy regulates insulin-induced plasma membrane recruitment of GLUT4 and glucose uptake through interaction with TBC1D1 (PubMed:24879834). Plays a role in cold and diet-induced adaptive thermogenesis by activating ventromedial hypothalamus (VMH) neurons throught AMPK inhibition which enhances sympathetic outflow to subcutaneous white adipose tissue (sWAT), sWAT beiging and cold tolerance (By similarity). Also plays a role in other signaling pathways namely Wnt/beta-catenin, HGF and glucocorticoid receptor signaling (PubMed:19433865) (By similarity). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865). May affect adult neurogenesis in hippocampus and olfactory system via regulating the sensitivity of glucocorticoid receptor. Required for fibroblast migration through HGF cell signaling (By similarity).

Gene Wiki entry for APPL2 Gene

Additional gene information for APPL2 Gene

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

Genomics for APPL2 Gene

GeneHancer (GH) Regulatory Elements for APPL2 Gene

Promoters and enhancers for APPL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J105225 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1021.2 +4.9 4911 11.5 ZFX ELF3 SIX5 ZNF687 POLR2A SP1 ZNF148 ZSCAN21 MAFK TFE3 APPL2 WASHC4 C12orf75 PIR46520 GC12P105208
GH12J105326 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 1016.3 -95.8 -95786 11.8 SP1 CEBPG FOS JUND ZBTB7A SP7 CREM PRDM1 MZF1 ZNF547 C12orf75 APPL2 KCCAT198 LOC105369957
GH12J105253 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 1022.8 -19.8 -19795 5.5 CBFA2T2 ZNF148 SMARCA4 POLR2A DPF2 SMARCC1 CEBPB CHD2 JUN CTBP1 APPL2 C12orf75 WASHC4 KCCAT198
GH12J105106 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.3 +127.1 127131 5.2 SREBF1 MNT SP1 ZFX CBFA2T2 ELF3 SIX5 GTF2F1 MLLT1 ZNF687 WASHC4 LOC414300 ENSG00000257999 APPL2 KCCAT198 GC12P105154
GH12J105210 Enhancer 1.2 Ensembl ENCODE dbSUPER 25.6 +22.1 22099 6.9 SP1 CREB1 RXRA RFX1 FOXA2 SOX13 CEBPB RCOR1 BMI1 JUND PIR46520 WASHC4 APPL2 C12orf75 GC12P105208 LOC105369953
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APPL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APPL2 gene promoter:
  • AP-4
  • AREB6
  • COMP1
  • Elk-1
  • NF-kappaB
  • NF-kappaB1
  • NRF-2
  • p300
  • Pax-5
  • RelA

Genomic Locations for APPL2 Gene

Genomic Locations for APPL2 Gene
chr12:105,173,296-105,236,238
(GRCh38/hg38)
Size:
62,943 bases
Orientation:
Minus strand
chr12:105,567,074-105,630,016
(GRCh37/hg19)
Size:
62,943 bases
Orientation:
Minus strand

Genomic View for APPL2 Gene

Genes around APPL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APPL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APPL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
    • Homodimer (PubMed:18034774, PubMed:23055524). Homotetramer (PubMed:23055524). 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 (PubMed:15016378). Binds subunits of the NuRD/MeCP1 complex (PubMed:15016378). Interacts with FSHR; interaction is independent of follicle stimulating hormone stimulation (PubMed:17030088). Interacts with APPL1; the interaction is decreased by adiponectin in a time-dependent manner (PubMed:17030088, PubMed:18034774). Forms a complex comprising APPL1, RUVBL2, CTNNB1, HDAC1 and HDAC2; interaction reduces interaction between CTNNB1, HDAC1, HDAC2 and RUVBL2 leading to the decrease of deacetylase activity of this complex; affects the recruitment of repressive complexes to the Wnt target genes (PubMed:19433865). Interacts (via BAR domain) with TBC1D1; interaction is dependent of TBC1D1 phosphorylation at 'Ser-235'; interaction diminishes the phosphorylation of TBC1D1 at 'Thr-596', resulting in inhibition of SLC2A4 translocation and glucose uptake (PubMed:24879834). Interacts with ANXA2; targets APPL2 to endosomes and acting in parallel to RAB5A (PubMed:21645192). Interacts with RAB31 (in GTP-bound form); interaction contributes to or enhances recruitment of APPL2 to the phagosomes; interaction enhances Fc-gamma receptor-mediated phagocytosis through PI3K/Akt signaling in macrophages (PubMed:23055524). Interacts with PIK3R1; forms a complex with PIK3R1 and APPL1 (By similarity). Interacts (via BAR domain) with ADIPOR1; hinders the accessibility of APPL1 to ADIPOR1; negatively regulates adiponectin signaling; ADIPOQ dissociates this interaction and facilitates the recruitment of APPL1 to ADIPOR1 (By similarity). Interacts (via BAR domain) with ADIPOR2; ADIPOQ dissociates this interaction (By similarity).

    Three dimensional structures from OCA and Proteopedia for APPL2 Gene

    Alternative splice isoforms for APPL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APPL2 Gene

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 & Families for APPL2 Gene

Gene Families for APPL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for APPL2 Gene

GenScript: Design optimal peptide antigens:
  • Adapter protein containing PH domain, PTB domain and leucine zipper motif 2 (DP13B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NEU8

UniProtKB/Swiss-Prot:

DP13B_HUMAN :
  • The BAR domain is necessary and sufficient for mediating homotypic and heterotypic interactions; associates with cytoplasmic membrane structures; mediates interaction with TBC1D1 and ADIPOR1 (PubMed:18034774) (By similarity). The PH and PID domains mediate phosphoinositide binding (PubMed:18034774). The PID domain mediates phosphatidylserine binding and allows localization to cytosolic membrane structures and nucleus (PubMed:18034774). The PH domain allows localization to the plasma membrane, cytosolic vesicles and distinct nuclear and perinuclear structures and is sufficient for RUVBL2 interaction (PubMed:18034774, PubMed:19433865).
Domain:
  • The BAR domain is necessary and sufficient for mediating homotypic and heterotypic interactions; associates with cytoplasmic membrane structures; mediates interaction with TBC1D1 and ADIPOR1 (PubMed:18034774) (By similarity). The PH and PID domains mediate phosphoinositide binding (PubMed:18034774). The PID domain mediates phosphatidylserine binding and allows localization to cytosolic membrane structures and nucleus (PubMed:18034774). The PH domain allows localization to the plasma membrane, cytosolic vesicles and distinct nuclear and perinuclear structures and is sufficient for RUVBL2 interaction (PubMed:18034774, PubMed:19433865).
genes like me logo Genes that share domains with APPL2: view

Function for APPL2 Gene

Molecular function for APPL2 Gene

UniProtKB/Swiss-Prot Function:
Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:26583432, PubMed:15016378, PubMed:24879834). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Plays a role in immune response by modulating phagocytosis, inflammatory and innate immune responses. In macrophages, enhances Fc-gamma receptor-mediated phagocytosis through interaction with RAB31 leading to activation of PI3K/Akt signaling. In response to LPS, modulates inflammatory responses by playing a key role on the regulation of TLR4 signaling and in the nuclear translocation of RELA/NF-kappa-B p65 and the secretion of pro- and anti-inflammatory cytokines. Also functions as a negative regulator of innate immune response via inhibition of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Plays a role in endosomal trafficking of TGFBR1 from the endosomes to the nucleus (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting ans insulin signaling pathways and adaptative thermogenesis (PubMed:24879834) (By similarity). In muscle, negatively regulates adiponectin-simulated glucose uptake and fatty acid oxidation by inhibiting adiponectin signaling pathway through APPL1 sequestration thereby antagonizing APPL1 action (By similarity). In muscles, negativeliy regulates insulin-induced plasma membrane recruitment of GLUT4 and glucose uptake through interaction with TBC1D1 (PubMed:24879834). Plays a role in cold and diet-induced adaptive thermogenesis by activating ventromedial hypothalamus (VMH) neurons throught AMPK inhibition which enhances sympathetic outflow to subcutaneous white adipose tissue (sWAT), sWAT beiging and cold tolerance (By similarity). Also plays a role in other signaling pathways namely Wnt/beta-catenin, HGF and glucocorticoid receptor signaling (PubMed:19433865) (By similarity). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865). May affect adult neurogenesis in hippocampus and olfactory system via regulating the sensitivity of glucocorticoid receptor. Required for fibroblast migration through HGF cell signaling (By similarity).

Phenotypes From GWAS Catalog for APPL2 Gene

Gene Ontology (GO) - Molecular Function for APPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IDA 18034774
GO:0005515 protein binding IPI 15016378
GO:0035091 phosphatidylinositol binding IDA 18034774
GO:0042803 protein homodimerization activity IDA 18034774
GO:0044877 protein-containing complex binding IPI 15016378
genes like me logo Genes that share ontologies with APPL2: view
genes like me logo Genes that share phenotypes with APPL2: view

Animal Models for APPL2 Gene

MGI Knock Outs for APPL2:

Animal Model Products

CRISPR Products

miRNA for APPL2 Gene

miRTarBase miRNAs that target APPL2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APPL2

Clone Products

  • Applied Biological Materials (abm): Clones for APPL2 - Now 50% OFF >
  • * APPL2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * APPL2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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. Cell membrane. Endosome membrane. Cytoplasm. Cytoplasmic vesicle, phagosome. Cell projection, ruffle. Cell projection, ruffle membrane. Cell membrane. Cytoplasmic vesicle, phagosome membrane. Note=Early endosomal membrane-bound and nuclear (PubMed:15016378). Translocated into the nucleus upon release from endosomal membranes following internalization of EGF (PubMed:15016378). Associates dynamically with cytoplasmic membrane structures that undergo changes in shape, movement, fusion and fission events (PubMed:18034774). PI(4,5)P2 levels are important for membrane association of APPL2 (PubMed:18034774). Absent of endosome in macrophage. Colocalized with RAB31 at early-stage phagosome (By similarity). Localized on macropinosomes in LPS-activated macrophages. Associated with membrane domains in contact with pathogens and pathogen-derived ligands like LPS. First recruited to the ruffles, and accumulates on macropinosomes (By similarity). {ECO:0000250 UniProtKB:Q8K3G9, ECO:0000269 PubMed:15016378, ECO:0000269 PubMed:18034774}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APPL2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endosome 5
cytosol 2

Gene Ontology (GO) - Cellular Components for APPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005634 nucleus IEA,IDA 15016378
GO:0005768 endosome IDA,IEA 21645192
GO:0005886 plasma membrane IDA 18034774
GO:0010008 endosome membrane IBA,IDA 15016378
genes like me logo Genes that share ontologies with APPL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APPL2 Gene

Pathways & Interactions for APPL2 Gene

PathCards logo

SuperPathways for APPL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for APPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002024 diet induced thermogenesis ISS --
GO:0006606 protein import into nucleus IDA 26583432
GO:0007049 cell cycle IEA --
GO:0007165 signal transduction TAS 15016378
GO:0007179 transforming growth factor beta receptor signaling pathway IMP 26583432
genes like me logo Genes that share ontologies with APPL2: view

No data available for Pathways by source and SIGNOR curated interactions for APPL2 Gene

Drugs & Compounds for APPL2 Gene

No Compound Related Data Available

Transcripts for APPL2 Gene

mRNA/cDNA for APPL2 Gene

Unigene Clusters for APPL2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APPL2

Clone Products

  • Applied Biological Materials (abm): Clones for APPL2 - Now 50% OFF >
  • * APPL2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * APPL2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for APPL2 Gene

Protein differential expression in normal tissues from HIPED for APPL2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.0), Heart (12.0), and Platelet (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APPL2 Gene



Protein tissue co-expression partners for APPL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of APPL2 Gene:

APPL2

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.

Evidence on tissue expression from TISSUES for APPL2 Gene

  • Intestine(4.3)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with APPL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for APPL2 Gene

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 35 34
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APPL2 35 34
  • 91.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APPL2 35 34
  • 89.68 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APPL2 35
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APPL2 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Appl2 17 35 34
  • 87.92 (n)
rat
(Rattus norvegicus)
Mammalia Appl2 34
  • 87.31 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 86 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
LOC100857286 34
  • 77.25 (n)
lizard
(Anolis carolinensis)
Reptilia APPL2 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia appl2 34
  • 72.21 (n)
zebrafish
(Danio rerio)
Actinopterygii appl2 35 34
  • 66.72 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for APPL2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for APPL2: view image

Paralogs for APPL2 Gene

(1) SIMAP similar genes for APPL2 Gene using alignment to 7 proteins:

  • DP13B_HUMAN
  • F8VR68_HUMAN
  • F8VS86_HUMAN
  • F8VWV2_HUMAN
  • F8VXB0_HUMAN
  • F8W124_HUMAN
  • H0YH86_HUMAN
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 Variation AA Info Type
rs1000063575 -- 105,232,252(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000247758 -- 105,213,610(-) T/C intron_variant
rs1000327100 -- 105,203,337(-) T/C intron_variant
rs1000370326 -- 105,201,930(-) /T intron_variant
rs1000405220 -- 105,174,628(-) G/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv560053 CNV loss 21841781
nsv832506 CNV gain 17160897
nsv952469 CNV duplication 24416366

Variation tolerance for APPL2 Gene

Residual Variation Intolerance Score: 84.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.51; 77.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APPL2 Gene

Human Gene Mutation Database (HGMD)
APPL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APPL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APPL2 Gene

Disorders for APPL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for APPL2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
phelan-mcdermid syndrome
  • phmds
- elite association - COSMIC cancer census association via MalaCards
Search APPL2 in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:11431708}.

Additional Disease Information for APPL2

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

No data available for Genatlas for APPL2 Gene

Publications for APPL2 Gene

  1. APPL1, APPL2, Akt2 and FOXO1a interact with FSHR in a potential signaling complex. (PMID: 17030088) Nechamen CA … Dias JA (Molecular and cellular endocrinology 2007) 2 3 4 23 58
  2. 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 MC … Zuffardi O (American journal of human genetics 2001) 2 3 4 23 58
  3. Endosomal adaptor proteins APPL1 and APPL2 are novel activators of beta-catenin/TCF-mediated transcription. (PMID: 19433865) Rashid S … Miaczynska M (The Journal of biological chemistry 2009) 3 4 23 58
  4. APPL proteins promote TGFβ-induced nuclear transport of the TGFβ type I receptor intracellular domain. (PMID: 26583432) Song J … Landström M (Oncotarget 2016) 3 4 58
  5. The adaptor protein APPL2 inhibits insulin-stimulated glucose uptake by interacting with TBC1D1 in skeletal muscle. (PMID: 24879834) Cheng KK … Xu A (Diabetes 2014) 3 4 58

Products for APPL2 Gene

Sources for APPL2 Gene

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