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PLEK2 pleckstrin 2 [ Homo sapiens (human) ]

Gene ID: 26499, updated on 10-Dec-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67386984..67412165, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61594107..61619283, complement)
RS_2024_09 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)

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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_2024_08

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