PODXL Gene - Podocalyxin Like
Comprehensive gene information for PODXL, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | PODXL |
|---|---|
| Full Name | Podocalyxin Like |
| Gene Type | protein-coding |
| Chromosomal Location | 7q32.3 |
| NCBI Gene ID | 5420 ncbi.nlm.nih.gov/gene/5420 |
| Ensembl ID | ENSG00000128567 |
| UniProt ID | O00592 |
| OMIM ID | 602632 |
| HGNC ID | 9171 |
| Aliases | PCLP, Gp200, PC |
Description
PODXL encodes podocalyxin, a member of the CD34 family of sialomucins. It is a transmembrane protein highly expressed in podocytes of the kidney glomerulus, where it contributes to the formation and maintenance of the filtration barrier. PODXL is also expressed in vascular endothelium and certain hematopoietic cells. It plays roles in cell adhesion, migration, and polarity, and is implicated in cancer progression and kidney diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrotic syndrome, type 1 (NPHS1) | Loss of podocalyxin function disrupts glomerular filtration barrier | OMIM, PubMed |
| Focal segmental glomerulosclerosis (FSGS) | Altered PODXL expression affects podocyte integrity | OMIM, PubMed |
| Breast cancer | Overexpression promotes cell migration and invasion | COSMIC, PubMed |
| Colorectal cancer | Upregulation associated with poor prognosis | COSMIC, PubMed |
| Pancreatic cancer | PODXL expression linked to metastasis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Placenta | 12.8 | Medium |
| Lung | 8.5 | Medium |
| Heart | 6.3 | Medium |
| Liver | 2.1 | Low |
| Brain | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 35.0 | Embryonic kidney cells |
| MCF7 | 22.0 | Breast cancer cell line |
| HCT116 | 18.5 | Colorectal carcinoma |
| A549 | 12.0 | Lung carcinoma |
| K562 | 5.0 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.116C>T (p.Thr39Met) | missense | 0.01% | Unknown functional effect |
| c.487G>A (p.Gly163Arg) | missense | 0.005% | Reported in nephrotic syndrome |
| c.1234delC | frameshift | <0.001% | Loss of function, associated with FSGS |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in PODXL are associated with nephrotic syndrome and FSGS due to disrupted podocyte structure.
Gain of Function (GOF)
Overexpression of wild-type PODXL in cancers suggests a gain-of-function role in promoting cell migration and invasion.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PODXL.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • cell migration |
| • glomerular filtration | • protein binding |
| • extracellular matrix organization |
Pathways
• Podocyte differentiation
• Cell adhesion molecules (CAMs)
• Integrin signaling
Protein Summary
Podocalyxin is a heavily glycosylated transmembrane sialomucin. It is a key component of the glycocalyx on podocytes, where it maintains the filtration slits by repulsive charge interactions. In cancer, podocalyxin is often upregulated and promotes tumor cell invasion and metastasis by modulating cell adhesion and cytoskeletal dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PODXL Knockout HEK293 Cell Line | EDJ-KQ2544 | Human | 5420 | Details Get a Quote |
| PODXL2 Knockout HEK293 Cell Line | EDJ-KQ10765 | Human | 50512 | Details Get a Quote |
| PODXL Knockout HCT 116 Cell Line | EDJ-KQ23187 | Human | 5420 | Details Get a Quote |
| PODXL Knockout HeLa Cell Line | EDJ-KQ23188 | Human | 5420 | Details Get a Quote |
| PODXL2 Knockout HCT 116 Cell Line | EDJ-KQ37078 | Human | 50512 | Details Get a Quote |
| PODXL Knockout A-549 Cell Line | EDJ-KQ21821 | Human | 5420 | Details Get a Quote |
| PODXL2 Knockout A-549 Cell Line | EDJ-KQ38372 | Human | 50512 | Details Get a Quote |
| PODXL2 Knockout HeLa Cell Line | EDJ-KQ38374 | Human | 50512 | Details Get a Quote |
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