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    APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 [ Homo sapiens (human) ]

    Gene ID: 55198, updated on 4-Jul-2021

    Summary

    Official Symbol
    APPL2provided by HGNC
    Official Full Name
    adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2provided by HGNC
    Primary source
    HGNC:HGNC:18242
    See related
    Ensembl:ENSG00000136044 MIM:606231
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DIP13B
    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]
    Expression
    Ubiquitous expression in colon (RPKM 10.8), small intestine (RPKM 10.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APPL2 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (105173297..105236174, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (105567078..105629952, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC414300 Neighboring gene WASH complex subunit 4 Neighboring gene uncharacterized LOC105369953 Neighboring gene renal clear cell carcinoma-associated transcript 198 Neighboring gene chromosome 12 open reading frame 75

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10659

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylserine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adiponectin-activated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hepatocyte growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cold acclimation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in diet induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cellular response to insulin stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cytokine production involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of fatty acid oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of glucose import ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neural precursor cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of macropinocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phagocytosis, engulfment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of fibroblast migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of toll-like receptor 4 signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in early phagosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in early phagosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in macropinosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ruffle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DCC-interacting protein 13-beta
    Names
    DIP13 beta
    adapter protein containing PH domain, PTB domain and leucine zipper motif 2
    adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030419.1 RefSeqGene

      Range
      5001..67934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001251904.2NP_001238833.1  DCC-interacting protein 13-beta isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional in-frame segment in the coding region, compared to variant 1. The resulting isoform 2 is longer than isoform 1.
      Source sequence(s)
      AC016257, AC078874
      Consensus CDS
      CCDS58276.1
      UniProtKB/Swiss-Prot
      Q8NEU8
      Related
      ENSP00000446917.1, ENST00000551662.5
      Conserved Domains (3) summary
      cd07632
      Location:20240
      BAR_APPL2; The Bin/Amphiphysin/Rvs (BAR) domain of Adaptor protein, Phosphotyrosine interaction, PH domain and Leucine zipper containing 2
      cd13158
      Location:488621
      PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain
      cd13247
      Location:258382
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain
    2. NM_001251905.2NP_001238834.1  DCC-interacting protein 13-beta isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' exon, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC016257, AC078874
      Consensus CDS
      CCDS58275.1
      UniProtKB/Swiss-Prot
      Q8NEU8
      Related
      ENSP00000444472.2, ENST00000539978.6
      Conserved Domains (4) summary
      cd13158
      Location:439572
      PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain
      cd13247
      Location:209333
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain
      pfam00169
      Location:235332
      PH; PH domain
      cl12013
      Location:1191
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. NM_018171.5NP_060641.2  DCC-interacting protein 13-beta isoform 1

      See identical proteins and their annotated locations for NP_060641.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (1).
      Source sequence(s)
      AC016257, AC078874
      Consensus CDS
      CCDS9101.1
      UniProtKB/Swiss-Prot
      Q8NEU8
      Related
      ENSP00000258530.3, ENST00000258530.8
      Conserved Domains (3) summary
      cd07632
      Location:20234
      BAR_APPL2; The Bin/Amphiphysin/Rvs (BAR) domain of Adaptor protein, Phosphotyrosine interaction, PH domain and Leucine zipper containing 2
      cd13158
      Location:482615
      PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain
      cd13247
      Location:252376
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      105173297..105236174 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019554.1XP_016875043.1  DCC-interacting protein 13-beta isoform X6

    2. XM_006719472.1XP_006719535.1  DCC-interacting protein 13-beta isoform X4

      Conserved Domains (4) summary
      cd07632
      Location:20240
      BAR_APPL2; The Bin/Amphiphysin/Rvs (BAR) domain of Adaptor protein, Phosphotyrosine interaction, PH domain and Leucine zipper containing 2
      cd13247
      Location:258382
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain
      pfam00169
      Location:284381
      PH; PH domain
      cl17171
      Location:488563
      PH-like; Pleckstrin homology-like domain
    3. XM_011538532.3XP_011536834.1  DCC-interacting protein 13-beta isoform X3

      See identical proteins and their annotated locations for XP_011536834.1

      Conserved Domains (4) summary
      cd13158
      Location:445578
      PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain
      cd13247
      Location:215339
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain
      pfam00169
      Location:241338
      PH; PH domain
      cl12013
      Location:1197
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    4. XM_017019553.2XP_016875042.1  DCC-interacting protein 13-beta isoform X5

      UniProtKB/Swiss-Prot
      Q8NEU8
      Conserved Domains (4) summary
      cd13158
      Location:439572
      PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain
      cd13247
      Location:209333
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain
      pfam00169
      Location:235332
      PH; PH domain
      cl12013
      Location:1191
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    5. XM_011538531.3XP_011536833.1  DCC-interacting protein 13-beta isoform X3

      See identical proteins and their annotated locations for XP_011536833.1

      Conserved Domains (4) summary
      cd13158
      Location:445578
      PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain
      cd13247
      Location:215339
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain
      pfam00169
      Location:241338
      PH; PH domain
      cl12013
      Location:1197
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    6. XM_017019552.2XP_016875041.1  DCC-interacting protein 13-beta isoform X5

      UniProtKB/Swiss-Prot
      Q8NEU8
      Conserved Domains (4) summary
      cd13158
      Location:439572
      PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain
      cd13247
      Location:209333
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain
      pfam00169
      Location:235332
      PH; PH domain
      cl12013
      Location:1191
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    7. XM_011538530.3XP_011536832.1  DCC-interacting protein 13-beta isoform X1

      Conserved Domains (4) summary
      cd07632
      Location:7227
      BAR_APPL2; The Bin/Amphiphysin/Rvs (BAR) domain of Adaptor protein, Phosphotyrosine interaction, PH domain and Leucine zipper containing 2
      cd13158
      Location:475608
      PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain
      cd13247
      Location:245369
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain
      pfam00169
      Location:271368
      PH; PH domain
    8. XM_017019551.2XP_016875040.1  DCC-interacting protein 13-beta isoform X2

    RNA

    1. XR_001748796.1 RNA Sequence

      Related
      ENST00000547439.5
    2. XR_001748795.1 RNA Sequence

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