PLEKHA3 Gene - Pleckstrin Homology Domain Containing A3
Comprehensive genomic and functional overview of PLEKHA3, a PH domain-containing protein involved in phosphoinositide signaling and cellular localization.
Gene Information Card
| Symbol | PLEKHA3 |
|---|---|
| Full Name | Pleckstrin homology domain containing A3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.2 |
| NCBI Gene ID | 65977 ncbi.nlm.nih.gov/gene/65977 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9HB20 |
| OMIM ID | 608243 |
| HGNC ID | 19210 |
| Aliases | FLJ11184, PH domain-containing family A member 3 |
Description
PLEKHA3 (Pleckstrin homology domain containing A3) is a protein-coding gene located on chromosome 2q31.2. The encoded protein contains a pleckstrin homology (PH) domain, which mediates binding to phosphoinositides and targets proteins to cellular membranes. PLEKHA3 is involved in phosphoinositide signaling pathways and may play a role in subcellular localization and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No direct evidence from ClinVar, OMIM, or COSMIC as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Lung | 8.5 | Medium |
| Kidney | 7.1 | Low |
| Liver | 5.3 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 6.2 | Low expression |
| HepG2 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.01% | Unknown functional effect |
| c.456G>A (p.Trp152*) | Nonsense | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Trp152* likely leads to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
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
• Phosphoinositide signaling (Reactome: R-HSA-1483249)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
The PLEKHA3 protein (UniProt Q9HB20) contains a single pleckstrin homology (PH) domain that binds phosphoinositides, particularly phosphatidylinositol-4,5-bisphosphate. It localizes to the cytoplasm and cellular membranes, and is implicated in phosphoinositide-mediated signaling and membrane dynamics. The protein is 352 amino acids long with a molecular weight of approximately 40 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHA3 Knockout HEK293 Cell Line | EDJ-KQ14785 | Human | 65977 | Details Get a Quote |
| PLEKHA3 Knockout HeLa Cell Line | EDJ-KQ43945 | Human | 65977 | Details Get a Quote |
| PLEKHA3 Knockout A-549 Cell Line | EDJ-KQ45195 | Human | 65977 | Details Get a Quote |
| PLEKHA3 Knockout HCT 116 Cell Line | EDJ-KQ45196 | Human | 65977 | Details Get a Quote |
