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    PLEK2 pleckstrin 2 [ Homo sapiens (human) ]

    Gene ID: 26499, updated on 2-May-2024

    Summary

    Official Symbol
    PLEK2provided by HGNC
    Official Full Name
    pleckstrin 2provided by HGNC
    Primary source
    HGNC:HGNC:19238
    See related
    Ensembl:ENSG00000100558 MIM:608007; AllianceGenome:HGNC:19238
    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
    Summary
    The protein encoded by this gene associates with membrane-bound phosphatidylinositols generated by phosphatidylinositol 3-kinase. The encoded protein then interacts with the actin cytoskeleton to induce cell spreading. In conjunction with complement component 1, q subcomponent, B chain (C1QB), this gene shows an increase in expression in melanoma cells and may serve as an accurate biomarker for the disease. [provided by RefSeq, Dec 2015]
    Expression
    Broad expression in adrenal (RPKM 16.6), small intestine (RPKM 14.3) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PLEK2 in Genome Data Viewer
    Location:
    14q23.3-q24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67386984..67412165, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61594107..61619283, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (67853701..67878882, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:67825632-67826418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8578 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36264 Neighboring gene Sharpr-MPRA regulatory region 12737 Neighboring gene GATA motif-containing MPRA enhancer 49 Neighboring gene ATPase H+ transporting V1 subunit D Neighboring gene uncharacterized LOC105370542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924223-67924724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924725-67925224 Neighboring gene eukaryotic translation initiation factor 2 subunit alpha Neighboring gene microRNA 5694

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3,4-bisphosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-3,5-bisphosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-3-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of plasma membrane bounded cell projection assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lamellipodium membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    pleckstrin-2
    Names
    pleckstrin 2 homolog

    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.

    mRNA and Protein(s)

    1. NM_016445.3NP_057529.1  pleckstrin-2

      See identical proteins and their annotated locations for NP_057529.1

      Status: REVIEWED

      Source sequence(s)
      AF228603, CR976852
      Consensus CDS
      CCDS9782.1
      UniProtKB/Swiss-Prot
      Q96JT0, Q9NYT0
      Related
      ENSP00000216446.4, ENST00000216446.9
      Conserved Domains (4) summary
      cd04444
      Location:128236
      DEP_PLEK2; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in pleckstrin 2-like proteins. Pleckstrin 2 is found in a wide variety of cell types, which suggest a more general role in signaling than pleckstrin 1. Pleckstrin-like proteins contain a central ...
      cd13301
      Location:3113
      PH1_Pleckstrin_2; Pleckstrin 2 Pleckstrin homology (PH) domain, repeat 1
      cd13302
      Location:242353
      PH2_Pleckstrin_2; Pleckstrin 2 Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:595
      PH; PH domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      67386984..67412165 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431262.1XP_047287218.1  pleckstrin-2 isoform X1

    2. XM_047431263.1XP_047287219.1  pleckstrin-2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      61594107..61619283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375851.1XP_054231826.1  pleckstrin-2 isoform X1

    2. XM_054375852.1XP_054231827.1  pleckstrin-2 isoform X2