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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLEKHA2
pleckstrin homology domain containing A2
Chromosome 8 · 8p11.22
NCBI Gene: 59339Ensembl: ENSG00000169499.15HGNC: HGNC:14336UniProt: A0A087WZ32
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
fibronectin bindingprotein bindingphosphatidylinositol-3,4-bisphosphate bindingpositive regulation of cell-matrix adhesionparalytic strabismusCOVID-19esophageal squamous cell carcinomachronic lymphocytic leukemia
✦AI Summary

PLEKHA2 is a pleckstrin homology domain-containing adapter protein that functions as a phosphoinositide-binding effector in cellular signaling. Primary function: PLEKHA2 binds specifically to phosphatidylinositol 3,4-bisphosphate [PtdIns(3,4)P2] 1 and recruits other proteins to the plasma membrane through its PH domain 2, participating in phosphoinositide-driven signaling cascades. Mechanism: As a member of the PH domain-containing protein family, PLEKHA2 is recruited to the plasma membrane in response to phosphatidylinositol 3-kinase (PI3K) signaling 3, where it accumulates in membrane regions involved in cell-matrix adhesion and cytoskeletal reorganization 1. Disease relevance: PLEKHA2 expression is dysregulated in multiple pathological conditions, including hepatitis B virus infection where mRNA levels are significantly decreased 4, postmenopausal osteoporosis where it shows differential DNA methylation patterns 5, and T-cell prolymphocytic leukemia where it is located within breakpoint regions 6. Additionally, lithium treatment—used therapeutically in bipolar disorder—influences PLEKHA2 expression in peripheral cells 7. Clinical significance: Dysregulation of PLEKHA2 and related phosphoinositide signaling may contribute to disease pathogenesis, suggesting potential therapeutic targeting through the PI3K-phosphoinositide pathway.

Sources cited
1
PLEKHA2 identified as PtdIns(3,4)P2-binding protein in affinity-proteomics screen and participates in cell migration and protein trafficking functions
PMID: 31743753
2
High-resolution quantitative mass spectrometry identified 405 PIP-binding proteins including PH domain-containing proteins with specificity for phosphoinositide variants
PMID: 24462288
3
PH domain-containing adaptor proteins are recruited to plasma membrane through PI3K signaling and bind PtdIns(3,4)P2 with functional roles in cytoskeletal reorganization
PMID: 12101241
4
PLEKHA2 mRNA expression is significantly decreased in hepatitis B virus-infected liver tissues compared to normal liver tissues
PMID: 31996147
5
PLEKHA2 identified as one of the most common differentially methylated genes at both promoter region and CpG islands in postmenopausal osteoporosis
PMID: 32496000
6
PLEKHA2 gene involved in breakpoints identified through SNP array analysis in T-cell prolymphocytic leukemia
PMID: 19278963
7
PLEKHA2 expression is influenced by lithium treatment in control fibroblast cells, relevant to lithium's mechanisms in bipolar disorder treatment
PMID: 29067888
Disease Associationsⓘ20
paralytic strabismusOpen Targets
0.31Weak
COVID-19Open Targets
0.29Weak
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
chronic lymphocytic leukemiaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
lymphomaOpen Targets
0.01Suggestive
leukemiaOpen Targets
0.00Suggestive
Adams-Oliver syndromeOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
pachyonychia congenitaOpen Targets
0.00Suggestive
SATB2 associated disorderOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
pancreatic carcinomaOpen Targets
0.00Suggestive
hepatitis C virus induced hepatocellular carcinomaOpen Targets
0.00Suggestive
Sjogren syndromeOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
osteoporosisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PTPN13Protein interaction74%PLEKHA1Protein interaction74%PLEK2Protein interaction72%UTRNProtein interaction56%SKAP1Shared pathway17%CCL28Shared pathway11%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
97%
Brain
44%
Lung
37%
Ovary
30%
Liver
11%
Gene Interaction Network
Click a node to explore
PLEKHA2PTPN13PLEKHA1PLEK2UTRNSKAP1CCL28
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HB19
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.43–0.81]
RankingsWhere PLEKHA2 stands among ~20K protein-coding genes
  • #12,203of 20,598
    Most Researched29
  • #6,724of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedPLEKHA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lithium-induced gene expression alterations in two peripheral cell models of bipolar disorder.
PMID: 29067888
World J Biol Psychiatry · 2019
1.00
2
Alterations in DNA methylation profiles in cancellous bone of postmenopausal women with osteoporosis.
PMID: 32496000
FEBS Open Bio · 2020
0.90
3
Identification of PtdIns(3,4)P
PMID: 31743753
Biochim Biophys Acta Mol Cell Biol Lipids · 2020
0.80
4
Molecular allelokaryotyping of T-cell prolymphocytic leukemia cells with high density single nucleotide polymorphism arrays identifies novel common genomic lesions and acquired uniparental disomy.
PMID: 19278963
Haematologica · 2009
0.70
5
Bioinformatics analysis on multiple Gene Expression Omnibus datasets of the hepatitis B virus infection and its response to the interferon-alpha therapy.
PMID: 31996147
BMC Infect Dis · 2020
0.60