PLEK (pleckstrin)

2007-02-01  

Identity

HGNC
LOCATION
2p14
LOCUSID
ALIAS
P47
FUSION GENES

Other Information

Locus ID:

NCBI: 5341
MIM: 173570
HGNC: 9070
Ensembl: ENSG00000115956

Variants:

dbSNP: 5341
ClinVar: 5341
TCGA: ENSG00000115956
COSMIC: PLEK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115956ENST00000234313P08567

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201907522010Multiple common variants for celiac disease influencing immune gene expression.351
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
156985712005Structure and phosphatidylinositol-(3,4)-bisphosphate binding of the C-terminal PH domain of human pleckstrin.13
266860602015Transcriptome analysis reveals mucin 4 to be highly associated with periodontitis and identifies pleckstrin as a link to systemic diseases.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
195468542009Osteopetrosis with micro-lacunar resorption because of defective integrin organization.8
197221922009Proteomic identification of pleckstrin-associated proteins in platelets: possible interactions with actin.6
199446852010Novel role of pleckstrin homology domain of the Bcr-Abl protein: analysis of protein-protein and protein-lipid interactions.3
266806962015The pleckstrin homology domain of phospholipase D1 accelerates EGFR endocytosis by increasing the expression of the Rab5 effector, rabaptin-5.3
124563652003PH domain of G protein-coupled receptor kinase-2 binds to protein kinase C (PKC) and negatively regulates activity of PKC kinase.1

Citation

Dessen P

PLEK (pleckstrin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46495/plek