PLEKHA8 (Pleckstrin Homology Domain Containing A8): Gene, Function, and Clinical Relevance
A comprehensive biomedical overview of PLEKHA8, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | PLEKHA8 |
|---|---|
| Full Name | Pleckstrin homology domain containing A8 |
| Gene Type | protein coding |
| Chromosomal Location | 7p21.2 |
| NCBI Gene ID | 84793 ncbi.nlm.nih.gov/gene/84793 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q96JA1 |
| OMIM ID | 611011 |
| HGNC ID | 29202 |
| Aliases | FAPP2, FLJ13195, MGC126851 |
Description
PLEKHA8 encodes pleckstrin homology domain containing A8, also known as FAPP2 (phosphatidylinositol four-phosphate adaptor protein-2). This protein contains a pleckstrin homology (PH) domain and is involved in lipid transport and vesicular trafficking, particularly in the Golgi apparatus. It plays a role in glycosphingolipid synthesis and intracellular transport. Mutations and altered expression have been linked to cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression; potential role in tumor progression via lipid metabolism | COSMIC: mutations found in multiple cancer types; expression changes in tumor tissues |
| Colorectal cancer | Upregulation of PLEKHA8 may promote cell proliferation and migration | PubMed: expression studies in colorectal cancer cell lines and tissues |
| Hepatocellular carcinoma | Overexpression associated with poor prognosis; involvement in lipid signaling | PubMed: clinical cohort studies |
| Neuroblastoma | Potential oncogenic role; PH domain-mediated signaling | COSMIC: somatic mutations reported |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Liver | 5.1 | Low |
| Colon | 4.3 | Low |
| Kidney | 3.8 | Low |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.5 | Moderate expression |
| HepG2 | 5.0 | Low expression |
| A549 | 4.2 | Low expression |
| MCF7 | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% (gnomAD) | Unknown; possibly damaging |
| c.890_891insA (frameshift) | Insertion | Rare | Loss of function; may affect protein stability |
| c.1024G>A (p.Val342Met) | Missense | 0.02% (gnomAD) | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein may impair lipid binding and vesicular trafficking.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in cancer may act as oncogenic driver.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series
• Vesicle-mediated transport
• Golgi-to-ER retrograde transport
Protein Summary
PLEKHA8 (FAPP2) is a 396-amino acid protein with a PH domain that binds phosphatidylinositol-4-phosphate (PI4P) at the Golgi. It functions as a glucosylceramide transfer protein, essential for glycosphingolipid synthesis. It is involved in vesicular trafficking and lipid homeostasis. The protein is ubiquitously expressed with higher levels in brain and liver. Its dysregulation is implicated in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHA8 Knockout HEK293 Cell Line | EDJ-KQ10180 | Human | 84725 | Details Get a Quote |
| PLEKHA8 Knockout A-549 Cell Line | EDJ-KQ37305 | Human | 84725 | Details Get a Quote |
| PLEKHA8 Knockout HCT 116 Cell Line | EDJ-KQ37306 | Human | 84725 | Details Get a Quote |
| PLEKHA8 Knockout HeLa Cell Line | EDJ-KQ37307 | Human | 84725 | Details Get a Quote |
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