PLEKHA4: Pleckstrin Homology Domain Containing A4
A gene encoding a PH domain-containing protein involved in phosphoinositide signaling and cellular localization.
Gene Information Card
| Symbol | PLEKHA4 |
|---|---|
| Full Name | Pleckstrin Homology Domain Containing A4 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 57664 ncbi.nlm.nih.gov/gene/57664 |
| Ensembl ID | ENSG00000105568 |
| UniProt ID | Q9H2M9 |
| OMIM ID | 614769 |
| HGNC ID | 29035 |
| Aliases | PH domain-containing family A member 4, PEPP1 |
Description
PLEKHA4 encodes a protein containing a pleckstrin homology (PH) domain, which mediates binding to phosphoinositides and is involved in intracellular signaling and membrane localization. The gene is located on chromosome 19q13.33 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Liver | 2.1 | Low |
| Kidney | 4.5 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.0 | Low expression |
| HeLa | 2.5 | Low expression |
| K562 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4 (GO:0005546) | • lipid binding (GO:0008289) |
| • cytoplasm (GO:0005737) |
Pathways
• Phosphoinositide signaling
Protein Summary
The PLEKHA4 protein (UniProt Q9H2M9) contains a PH domain that binds phosphoinositides, particularly phosphatidylinositol-4,5-bisphosphate, and is implicated in membrane targeting and signal transduction. Its exact biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHA4 Knockout HEK293 Cell Line | EDJ-KQ14787 | Human | 57664 | Details Get a Quote |
| PLEKHA4 Knockout HCT 116 Cell Line | EDJ-KQ45197 | Human | 57664 | Details Get a Quote |
| PLEKHA4 Knockout HeLa Cell Line | EDJ-KQ56896 | Human | 57664 | Details Get a Quote |
| PLEKHA4 Knockout A-549 Cell Line | EDJ-KQ65408 | Human | 57664 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
