EDK
Editome Disease Knowledgebase
| Gene symbol | PODXL |
|---|---|
| Aliases | - |
| Protein Name | Podocalyxin |
| Function | Involved in the regulation of both adhesion and cell morphology and cancer progression. Function as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Plays a role in cancer development and aggressiveness by inducing cell migration and invasion through its interaction with the actin-binding protein EZR. Affects EZR-dependent signaling events, leading to Increased activities of the MAPK and PI3K pathways in cancer cells. |
| Species | Human |
| Editing Sites | 1 |
| Disease | Gastric Cancer; |
| Description | RNA misediting is closely associated with GC pathogenesis, the ADAR2-regulated recoding PODXL gene at codon 241 (His to Arg) confers a loss-of-function phenotype that neutralizes the tumorigenic ability of the unedited PODXL. |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | O00592(Uniport); NM_001018111 (NM id); 5420 (NCBI gene id); GeneCard; GTEx |
| Sequence |
| Enzyme | Editing type | Region | AA Seq Position | NT Seq Position | Codon Change | Amino Acid Change | Molecular Consequence | Editing Level | Tissue | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
A-to-I | CDS | 241 | 1091 | CAG->CGG | H->R | Nonsynonymous substitution | Absence | Gastric | RNA editing confers a loss-of-function phenotype that neutralizes the tumorigenic ability of the unedited PODXL. | Reduce tumorigenic ability |