PLEKHA2 Gene - Pleckstrin Homology Domain Containing A2
Comprehensive genomic and functional overview of PLEKHA2, a PH domain-containing protein involved in phosphoinositide signaling and cellular localization.
Gene Information Card
| Symbol | PLEKHA2 |
|---|---|
| Full Name | Pleckstrin Homology Domain Containing A2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p11.22 |
| NCBI Gene ID | 59341 ncbi.nlm.nih.gov/gene/59341 |
| Ensembl ID | ENSG00000104447 |
| UniProt ID | Q9HB21 |
| OMIM ID | 608674 |
| HGNC ID | 19237 |
| Aliases | TAPP2, PH domain-containing family A member 2 |
Description
PLEKHA2 (Pleckstrin Homology Domain Containing A2) encodes a protein that contains a pleckstrin homology (PH) domain. This domain mediates binding to phosphoinositides, particularly phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2), and is involved in membrane targeting and signal transduction. PLEKHA2 is also known as TAPP2 (tandem PH-domain-containing protein 2).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PLEKHA2 overexpression may promote cell migration and invasion via PI3K/Akt pathway modulation; limited evidence from cell line studies. | PubMed (PMID: 23434555) |
| Prostate cancer | Altered expression observed in tumor samples; potential role in phosphoinositide signaling affecting cell growth. | COSMIC (COSP46737) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.3 | Medium |
| Testis | 15.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression in embryonic kidney cells |
| HeLa | 9.8 | Moderate expression in cervical cancer cells |
| MCF7 | 11.5 | Moderate expression in breast cancer cells |
| K562 | 7.3 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.452A>G (p.Asn151Ser) | Missense | <0.01% | Unknown; no functional studies reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PLEKHA2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4 (GO:0005546) | • lipid binding (GO:0008289) |
| • phosphatidylinositol binding (GO:0035091) | • cytoplasm (GO:0005737) |
| • membrane (GO:0016020) |
Pathways
• PI3K/Akt signaling (Reactome: R-HSA-1257604)
• Phosphoinositide metabolism (Reactome: R-HSA-1483255)
Protein Summary
PLEKHA2 encodes a 381-amino acid protein (UniProt Q9HB21) containing a single PH domain that specifically binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2). This interaction targets the protein to the plasma membrane, where it may regulate cell signaling, cytoskeletal organization, and vesicle trafficking. Expression is widespread, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHA2 Knockout HEK293 Cell Line | EDJ-KQ14784 | Human | 59339 | Details Get a Quote |
| PLEKHA2 Knockout A-549 Cell Line | EDJ-KQ45192 | Human | 59339 | Details Get a Quote |
| PLEKHA2 Knockout HCT 116 Cell Line | EDJ-KQ45193 | Human | 59339 | Details Get a Quote |
| PLEKHA2 Knockout HeLa Cell Line | EDJ-KQ45194 | Human | 59339 | Details Get a Quote |
