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Aliases for PLEK Gene

Aliases for PLEK Gene

  • Pleckstrin 2 3 5
  • Platelet 47 KDa Protein 3 4
  • P47 3 4

External Ids for PLEK Gene

Previous GeneCards Identifiers for PLEK Gene

  • GC02P068726
  • GC02P068550
  • GC02P068566
  • GC02P068504
  • GC02P068445
  • GC02P068329

Summaries for PLEK Gene

GeneCards Summary for PLEK Gene

PLEK (Pleckstrin) is a Protein Coding gene. Diseases associated with PLEK include Myopathy, Centronuclear and Amyotrophic Lateral Sclerosis Type 2. Among its related pathways are Platelet activation, signaling and aggregation. GO annotations related to this gene include protein homodimerization activity and phosphatidylinositol-3,4-bisphosphate binding. An important paralog of this gene is PLEK2.

UniProtKB/Swiss-Prot for PLEK Gene

  • Major protein kinase C substrate of platelets.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEK Gene

Genomics for PLEK Gene

Regulatory Elements for PLEK Gene

Enhancers for PLEK Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PLEK on UCSC Golden Path with GeneCards custom track

Promoters for PLEK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PLEK on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PLEK gene promoter:

Genomic Location for PLEK Gene

68,365,173 bp from pter
68,397,453 bp from pter
32,281 bases
Plus strand

Genomic View for PLEK Gene

Genes around PLEK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PLEK Gene

Proteins for PLEK Gene

  • Protein details for PLEK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R9E8
    • Q53SU8
    • Q6FGM8
    • Q6FGQ1
    • Q8WV81

    Protein attributes for PLEK Gene

    350 amino acids
    Molecular mass:
    40125 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PLEK Gene

neXtProt entry for PLEK Gene

Proteomics data for PLEK Gene at MOPED

Post-translational modifications for PLEK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLEK Gene

Domains & Families for PLEK Gene

Gene Families for PLEK Gene

Suggested Antigen Peptide Sequences for PLEK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 DEP domain.
  • Contains 1 DEP domain.
  • Contains 2 PH domains.
genes like me logo Genes that share domains with PLEK: view

Function for PLEK Gene

Molecular function for PLEK Gene

GENATLAS Biochemistry:
pleckstrin,platelet and leukocyte major protein C kinase substrate
UniProtKB/Swiss-Prot Function:
Major protein kinase C substrate of platelets.

Gene Ontology (GO) - Molecular Function for PLEK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IDA 8694752
genes like me logo Genes that share ontologies with PLEK: view
genes like me logo Genes that share phenotypes with PLEK: view

Animal Models for PLEK Gene

MGI Knock Outs for PLEK:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLEK Gene

Localization for PLEK Gene

Subcellular locations from

Jensen Localization Image for PLEK Gene COMPARTMENTS Subcellular localization image for PLEK gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
cytoskeleton 3
nucleus 3
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
mitochondrion 2
vacuole 1

Gene Ontology (GO) - Cellular Components for PLEK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PLEK: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PLEK Gene

Pathways & Interactions for PLEK Gene

genes like me logo Genes that share pathways with PLEK: view

SIGNOR curated interactions for PLEK Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PLEK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEP 2768345
GO:0002576 platelet degranulation TAS --
GO:0006904 vesicle docking involved in exocytosis IEA,ISS --
GO:0010920 negative regulation of inositol phosphate biosynthetic process IDA 7559487
GO:0010925 positive regulation of inositol-polyphosphate 5-phosphatase activity IDA 8999861
genes like me logo Genes that share ontologies with PLEK: view

Drugs & Compounds for PLEK Gene

(25) Drugs for PLEK Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(34) Additional Compounds for PLEK Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PLEK: view

Transcripts for PLEK Gene

mRNA/cDNA for PLEK Gene

Unigene Clusters for PLEK Gene

Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLEK Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: -
SP6: - -
SP7: - -

Relevant External Links for PLEK Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PLEK Gene

mRNA expression in normal human tissues for PLEK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLEK Gene

This gene is overexpressed in Whole Blood (x23.7).

Protein differential expression in normal tissues from HIPED for PLEK Gene

This gene is overexpressed in Platelet (33.8), Peripheral blood mononuclear cells (17.4), and Spleen (6.5).

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

SOURCE GeneReport for Unigene cluster for PLEK Gene Hs.468840

genes like me logo Genes that share expression patterns with PLEK: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PLEK Gene

Orthologs for PLEK Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEK Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PLEK 35
  • 91.52 (n)
  • 94.57 (a)
  • 95 (a)
(Canis familiaris)
Mammalia PLEK 35
  • 90.76 (n)
  • 94.29 (a)
  • 94 (a)
(Mus musculus)
Mammalia Plek 35
  • 88.19 (n)
  • 91.71 (a)
Plek 16
Plek 36
  • 92 (a)
(Pan troglodytes)
Mammalia PLEK 35
  • 99.33 (n)
  • 99.14 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Plek 35
  • 87.81 (n)
  • 91.71 (a)
(Monodelphis domestica)
Mammalia PLEK 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
-- 36
  • 84 (a)
(Gallus gallus)
Aves PLEK 35
  • 77.17 (n)
  • 81.95 (a)
  • 81 (a)
(Anolis carolinensis)
Reptilia PLEK 36
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia plek 35
  • 71.18 (n)
  • 74.93 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC69065 35
(Danio rerio)
Actinopterygii plek 35
  • 68.1 (n)
  • 68 (a)
zgc66013 35
plek 36
  • 67 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
Species with no ortholog for PLEK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 PLEK Gene

Gene Tree for PLEK (if available)
Gene Tree for PLEK (if available)

Paralogs for PLEK Gene

Paralogs for PLEK Gene

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

genes like me logo Genes that share paralogs with PLEK: view

Variants for PLEK Gene

Sequence variations from dbSNP and Humsavar for PLEK Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_005524 -
VAR_027797 -
rs3816281 - 68,380,815(+) ATCAA(G/T)AAGGC reference, missense
rs1063479 - 68,395,782(+) GATCA(A/G)AGCCA reference, missense
rs34515106 - 68,380,846(-) AAATT(G/T)CTGGC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv874250 CNV Loss 21882294

Variation tolerance for PLEK Gene

Residual Variation Intolerance Score: 79.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.36; 96.34% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PLEK Gene

Disorders for PLEK Gene

MalaCards: The human disease database

(2) MalaCards diseases for PLEK Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
amyotrophic lateral sclerosis type 2
  • amyotrophic lateral sclerosis 2, juvenile
- elite association - COSMIC cancer census association via MalaCards
Search PLEK in MalaCards View complete list of genes associated with diseases

Relevant External Links for PLEK

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PLEK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEK Gene

Publications for PLEK Gene

  1. Molecular cloning and expression of the major protein kinase C substrate of platelets. (PMID: 2897630) Tyers M. … Harley C.B. (Nature 1988) 2 3 4 67
  2. Structure and dynamics of the human pleckstrin DEP domain: distinct molecular features of a novel DEP domain subfamily. (PMID: 15573383) Civera C. … Macias M.J. (Proteins 2005) 3 23
  3. Structure and phosphatidylinositol-(3,4)-bisphosphate binding of the C-terminal PH domain of human pleckstrin. (PMID: 15698571) Edlich C. … Muhle-Goll C. (Structure 2005) 3 23
  4. Translocation of pleckstrin requires its phosphorylation and newly formed ligands. (PMID: 12054651) Sloan D.C. … Haslam R.J. (Biochem. Biophys. Res. Commun. 2002) 2 3
  5. cDNA cloning and mapping of mouse pleckstrin (Plek), a gene upregulated in transformation-resistant cells. (PMID: 10860665) Cmarik J.L. … Colburn N.H. (Genomics 2000) 3 23

Products for PLEK Gene

Sources for PLEK Gene