PLEKHA5
Pleckstrin Homology Domain Containing A5
Gene Information Card
| Symbol | PLEKHA5 |
|---|---|
| Full Name | Pleckstrin Homology Domain Containing A5 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 57477 ncbi.nlm.nih.gov/gene/57477 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q9HAU0 |
| OMIM ID | 607772 |
| HGNC ID | 19036 |
| Aliases | FLJ10656, MGC138207, MGC138209 |
Description
PLEKHA5 encodes a protein containing a pleckstrin homology (PH) domain, which is involved in intracellular signaling and membrane targeting. The gene is located on chromosome 12p12.1 and is expressed in various tissues. PLEKHA5 has been implicated in cancer progression and metastasis, particularly in melanoma and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Overexpression promotes metastasis through PI3K/AKT pathway activation | PMID: 22926525 |
| Breast Cancer | Associated with poor prognosis and invasive phenotype | PMID: 25691885 |
| Glioma | Upregulation correlates with tumor grade and migration | PMID: 27351272 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Lung | 5.1 | Low |
| Breast | 4.8 | Low |
| Skin | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| MCF7 | 6.8 | Moderate expression |
| A549 | 4.5 | Low expression |
| SK-MEL-28 | 12.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% | Unknown |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | <0.01% | Loss of function |
| c.890G>A (p.Arg297His) | Missense | 0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature truncation are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for 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) |
| • plasma membrane (GO:0005886) |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006925)
Protein Summary
PLEKHA5 is a 1003-amino acid protein containing a pleckstrin homology (PH) domain that binds phosphoinositides, facilitating membrane localization and participation in signal transduction. It is implicated in cell migration and invasion, particularly in cancer contexts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHA5 Knockout HEK293 Cell Line | EDJ-KQ11432 | Human | 54477 | Details Get a Quote |
| PLEKHA5 Knockout A-549 Cell Line | EDJ-KQ39689 | Human | 54477 | Details Get a Quote |
| PLEKHA5 Knockout HCT 116 Cell Line | EDJ-KQ39690 | Human | 54477 | Details Get a Quote |
| PLEKHA5 Knockout HeLa Cell Line | EDJ-KQ39691 | Human | 54477 | Details Get a Quote |
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