FXYD5 (FXYD Domain Containing Ion Transport Regulator 5)
A transmembrane glycoprotein regulating Na+/K+-ATPase, implicated in cancer progression and metastasis.
Gene Information Card
| Symbol | FXYD5 |
|---|---|
| Full Name | FXYD Domain Containing Ion Transport Regulator 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 53827 ncbi.nlm.nih.gov/gene/53827 |
| Ensembl ID | ENSG00000105732 |
| UniProt ID | Q96DB9 |
| OMIM ID | 606143 |
| HGNC ID | 4029 |
| Aliases | DYSAD, dysadherin, FXYD5, MGC117188, MGC117189 |
Description
FXYD5 (dysadherin) is a member of the FXYD family of small ion transport regulators. It encodes a transmembrane glycoprotein that modulates Na+/K+-ATPase activity by reducing its affinity for Na+ and K+. FXYD5 is overexpressed in many cancers and is associated with increased cell motility, invasion, and metastasis. It also downregulates E-cadherin expression, promoting epithelial-mesenchymal transition (EMT).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of FXYD5 reduces E-cadherin and promotes EMT, invasion, and metastasis. | PMID: 15064718, 16959974 |
| Gastric cancer | FXYD5 upregulation correlates with poor prognosis and lymph node metastasis. | PMID: 16959974, 23325525 |
| Colorectal cancer | High FXYD5 expression associated with advanced stage and reduced survival. | PMID: 23325525 |
| Pancreatic cancer | FXYD5 promotes cell migration and invasion via Na+/K+-ATPase modulation. | PMID: 23325525 |
| Hepatocellular carcinoma | FXYD5 overexpression linked to metastasis and poor outcome. | PMID: 23325525 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Lung | 6.7 | Low |
| Breast | 4.2 | Low |
| Colon | 3.1 | Low |
| Stomach | 2.8 | Low |
| Pancreas | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| HCT116 (colorectal cancer) | 12.8 | High expression |
| A549 (lung cancer) | 9.5 | Medium expression |
| HepG2 (liver cancer) | 7.1 | Low expression |
| PANC-1 (pancreatic cancer) | 11.3 | High expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; functional impact unknown |
| c.100G>A (p.Gly34Ser) | Missense | <0.1% | Rare variant; no known disease association |
| c.200C>T (p.Thr67Met) | Missense | <0.1% | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in FXYD5.
Gain of Function (GOF)
Overexpression (not mutation) is the primary gain-of-function mechanism in cancer.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Na+/K+-ATPase regulation (REACTOME R-HSA-5578775)
• Epithelial-mesenchymal transition (KEGG hsa04520)
Protein Summary
FXYD5 (dysadherin) is a 178-amino-acid type I transmembrane glycoprotein with a single FXYD domain. It associates with the Na+/K+-ATPase α subunit and reduces its affinity for Na+ and K+, thereby modulating ion transport. In cancer, FXYD5 overexpression downregulates E-cadherin, disrupts cell-cell adhesion, and promotes EMT, invasion, and metastasis. It is considered a marker of poor prognosis in multiple carcinomas.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FXYD5 Knockout HEK293 Cell Line | EDJ-KQ3368 | Human | 53827 | Details Get a Quote |
| FXYD5 Knockout HCT 116 Cell Line | EDJ-KQ25042 | Human | 53827 | Details Get a Quote |
| FXYD5 Knockout HeLa Cell Line | EDJ-KQ25043 | Human | 53827 | Details Get a Quote |
| FXYD5 Knockout A-549 Cell Line | EDJ-KQ23652 | Human | 53827 | Details Get a Quote |
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