PLEKHA7: Pleckstrin Homology Domain Containing A7
A gene encoding a protein involved in cell-cell adhesion and junctional complexes, with implications in hypertension and cancer.
Gene Information Card
| Symbol | PLEKHA7 |
|---|---|
| Full Name | Pleckstrin homology domain containing A7 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.2 |
| NCBI Gene ID | 144100 ncbi.nlm.nih.gov/gene/144100 |
| Ensembl ID | ENSG00000148795 |
| UniProt ID | Q6IQ23 |
| OMIM ID | 612686 |
| HGNC ID | 22982 |
| Aliases | FLJ32709, MGC138290, MGC138291 |
Description
PLEKHA7 encodes a protein containing a pleckstrin homology (PH) domain, which is involved in phosphoinositide binding and membrane targeting. The protein localizes to adherens junctions and tight junctions in epithelial cells, playing a role in cell-cell adhesion and maintenance of epithelial polarity. It interacts with components of the junctional complex, including afadin and p120-catenin, and is implicated in the regulation of paracellular permeability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | PLEKHA7 variants may affect renal sodium handling and vascular tone through altered junctional integrity; GWAS association. | GWAS (PMID: 21909115) |
| Breast cancer | PLEKHA7 downregulation disrupts adherens junctions, promoting epithelial-mesenchymal transition and invasion. | Expression studies (PMID: 22926524) |
| Colorectal cancer | Loss of PLEKHA7 correlates with poor prognosis and increased metastatic potential. | Immunohistochemistry and survival analysis (PMID: 25695626) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 7.1 | Low |
| Lung | 6.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 9.8 | Moderate expression |
| Caco-2 (colorectal) | 11.2 | Moderate expression |
| HEK293 (embryonic kidney) | 14.5 | High expression |
| A549 (lung cancer) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1573C>T (p.Arg525Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.2146G>A (p.Gly716Ser) | Missense | <0.01% | Unknown; predicted benign |
| c.2950_2951del (p.Leu984fs) | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu984fs) lead to premature truncation and loss of PH domain, disrupting junctional localization.
Gain of Function (GOF)
No documented gain-of-function mutations in PLEKHA7.
Dominant Negative (DN)
Not reported for PLEKHA7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Adherens junction (KEGG: hsa04520)
• Tight junction (KEGG: hsa04530)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
PLEKHA7 is a 1121-amino acid protein with a single N-terminal pleckstrin homology (PH) domain. It localizes to the zonula adherens and interacts with afadin (AFDN) and p120-catenin (CTNND1), linking cadherin complexes to the actin cytoskeleton. The protein is essential for the stability of adherens junctions and regulation of paracellular permeability. Its expression is enriched in epithelial tissues, and loss of PLEKHA7 is associated with increased cell migration and invasion in cancer models.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHA7 Knockout HEK293 Cell Line | EDJ-KQ10403 | Human | 144100 | Details Get a Quote |
| PLEKHA7 Knockout HeLa Cell Line | EDJ-KQ36464 | Human | 144100 | Details Get a Quote |
| PLEKHA7 Knockout A-549 Cell Line | EDJ-KQ37753 | Human | 144100 | Details Get a Quote |
| PLEKHA7 Knockout HCT 116 Cell Line | EDJ-KQ37754 | Human | 144100 | Details Get a Quote |
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