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Aliases for PLEK Gene

Aliases for PLEK Gene

  • Pleckstrin 2 3 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 Charcot-Marie-Tooth Disease, Dominant Intermediate A and Charcot-Marie-Tooth Disease, Dominant Intermediate B. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (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.

Additional gene information for PLEK Gene

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

Genomics for PLEK Gene

GeneHancer (GH) Regulatory Elements for PLEK Gene

Promoters and enhancers for PLEK Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I068361 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 569.6 +1.0 1033 8.5 HDGF PKNOX1 CLOCK ATF1 SMAD1 ARNT ARID4B DMAP1 IRF4 YY1 PLEK FBXO48 APLF ARHGAP25 C1D PPP3R1 LOC101927723 GC02P067636
GH02I068827 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 26 +465.3 465315 5.5 PKNOX1 SMAD1 FEZF1 ZNF2 YY1 FOS SP3 REST ZNF592 MEF2D LINC01888 PLEK LINC01890 FBXO48 ARHGAP25 APLF LOC105374790
GH02I068375 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 25.6 +18.1 18117 16.5 HDGF PKNOX1 FOXA2 SMAD1 BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 PLEK FBXO48 APLF ARHGAP25 PPP3R1 C1D LOC101927723 LOC391383 GC02P067636
GH02I068732 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.9 +373.0 373021 12 CTCF PKNOX1 IRF2 USF1 EBF1 CEBPG IRF9 FOSL1 POLR2A STAT2 ARHGAP25 PLEK LINC01888 FBXO48 APLF LOC105374790
GH02I068833 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17.1 +470.0 470027 2.8 BHLHE40 E2F5 MAX MAFG BACH1 PYGO2 RFX5 RELA ZNF592 ZNF316 FBXO48 PLEK LINC01890 APLF ARHGAP25 LINC01888
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLEK on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PLEK Gene

Genomic Locations for PLEK Gene
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

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

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PLEK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

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.

Phenotypes From GWAS Catalog for PLEK Gene

Gene Ontology (GO) - Molecular Function for PLEK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005080 protein kinase C binding IDA 8615792
GO:0005515 protein binding IPI 8999861
GO:0042803 protein homodimerization activity IDA 8694752
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding IDA 15698571
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

CRISPR Products

Inhibitory RNA Products

Clone 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

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 PLEK gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
cytoskeleton 3
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLEK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IDA 8694752
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA,HDA 19946888
GO:0032587 ruffle membrane IDA 9060471
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,IEP --
GO:0006904 vesicle docking involved in exocytosis IEA,ISS --
GO:0007229 integrin-mediated signaling pathway IDA 10995449
GO:0010572 positive regulation of platelet activation ISS,IEA --
genes like me logo Genes that share ontologies with PLEK: view

Drugs & Compounds for PLEK Gene

(27) Drugs for PLEK Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(32) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PLEK Gene

NURSA nuclear receptor signaling pathways regulating expression of PLEK Gene:


SOURCE GeneReport for Unigene cluster for PLEK Gene:


Evidence on tissue expression from TISSUES for PLEK Gene

  • Blood(4.8)
  • Spleen(4.5)
  • Lung(4)
  • Bone marrow(2.9)
  • Nervous system(2.8)
  • Kidney(2.7)
  • Heart(2.5)
  • Intestine(2.3)
  • Lymph node(2.3)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with PLEK: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia PLEK 33 34
  • 99.33 (n)
(Bos Taurus)
Mammalia PLEK 33 34
  • 91.52 (n)
(Canis familiaris)
Mammalia PLEK 33 34
  • 90.76 (n)
(Monodelphis domestica)
Mammalia PLEK 34
  • 89 (a)
(Mus musculus)
Mammalia Plek 33 16 34
  • 88.19 (n)
(Rattus norvegicus)
Mammalia Plek 33
  • 87.81 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
-- 34
  • 82 (a)
(Gallus gallus)
Aves PLEK 33 34
  • 77.17 (n)
(Anolis carolinensis)
Reptilia PLEK 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia plek 33
  • 71.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69065 33
(Danio rerio)
Actinopterygii plek 33 34
  • 68.1 (n)
zgc66013 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
Species where no ortholog for PLEK was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000097883 -- 68,393,568(+) G/A intron_variant
rs1000111924 -- 68,373,226(+) A/C/G intron_variant
rs1000201784 -- 68,367,252(+) T/C intron_variant
rs1000257480 -- 68,379,034(+) T/C intron_variant
rs1000355893 -- 68,395,213(+) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1006144 CNV gain 25217958
nsv1006382 CNV gain 25217958
nsv953139 CNV duplication 24416366

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)

Additional Variant Information for PLEK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for PLEK Gene

MalaCards: The human disease database

(5) MalaCards diseases for PLEK Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PLEK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLEK

Genetic Association Database
Human Genome Epidemiology 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. Structure and dynamics of the human pleckstrin DEP domain: distinct molecular features of a novel DEP domain subfamily. (PMID: 15573383) Civera C … Macias MJ (Proteins 2005) 3 4 22 58
  2. Phosphorylation of human pleckstrin on Ser-113 and Ser-117 by protein kinase C. (PMID: 8615792) Craig KL … Harley CB (The Biochemical journal 1996) 3 4 22 58
  3. Solution structure of a pleckstrin-homology domain. (PMID: 8208296) Yoon HS … Fesik SW (Nature 1994) 3 4 22 58
  4. Molecular cloning and expression of the major protein kinase C substrate of platelets. (PMID: 2897630) Tyers M … Harley CB (Nature 1988) 2 3 4 58
  5. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PMID: 21833088) International Multiple Sclerosis Genetics Consortium … Compston A (Nature 2011) 3 44 58

Products for PLEK Gene

Sources for PLEK Gene

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