PODXL2: Podocalyxin-Like 2 – Gene Overview and Functional Insights
Comprehensive biomedical profile of PODXL2, including genomic data, expression patterns, disease associations, and protein function.
Gene Information Card
| Symbol | PODXL2 |
|---|---|
| Full Name | podocalyxin-like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 50512 ncbi.nlm.nih.gov/gene/50512 |
| Ensembl ID | ENSG00000114631 |
| UniProt ID | Q9NZ53 |
| OMIM ID | 618539 |
| HGNC ID | 26488 |
| Aliases | PCLP2, PRO2731, MGC138290 |
Description
PODXL2 (podocalyxin-like 2) is a protein-coding gene located on chromosome 3q21.3. It encodes a member of the CD34/podocalyxin family of sialomucins, characterized by extensive O-glycosylation. The protein is involved in cell adhesion, migration, and polarity, and is expressed in various tissues including kidney, brain, and hematopoietic cells. PODXL2 has been implicated in cancer progression and renal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may promote tumor cell migration and invasion via modulation of cell adhesion and signaling pathways. | COSMIC; literature (PMID: 25691885) |
| Nephrotic syndrome (potential) | Podocalyxin family members are critical for glomerular podocyte function; PODXL2 may contribute to slit diaphragm integrity. | UniProt; inferred from family homology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Testis | 15.2 | Medium |
| Placenta | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression in embryonic kidney cells |
| K562 | 5.2 | Low expression in leukemia cell line |
| HepG2 | 7.1 | Moderate expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Reported in COSMIC; potential loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Gly416Ser) may reduce protein stability or glycosylation, impairing cell adhesion.
Gain of Function (GOF)
No documented gain-of-function mutations in PODXL2.
Dominant Negative (DN)
Not reported for PODXL2.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • cell adhesion (GO:0007155) | • integral component of membrane (GO:0016021) |
| • Golgi membrane (GO:0000139) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG: hsa04514
• Glycosaminoglycan biosynthesis – heparan sulfate / heparin (inferred)
Protein Summary
Podocalyxin-like 2 is a transmembrane sialomucin with a heavily O-glycosylated extracellular domain. It localizes to the apical plasma membrane in polarized cells and is involved in cell-cell and cell-matrix interactions. The protein shares structural homology with podocalyxin (PODXL) and CD34, and is thought to play roles in hematopoiesis, kidney development, and tumor metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PODXL2 Knockout HEK293 Cell Line | EDJ-KQ10765 | Human | 50512 | Details Get a Quote |
| PODXL2 Knockout HCT 116 Cell Line | EDJ-KQ37078 | Human | 50512 | 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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