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.

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 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
Displaying Records 1 To 4 Of 4 Records
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