FXYD3

FXYD Domain Containing Ion Transport Regulator 3

Gene Information Card

Symbol FXYD3
Full Name FXYD domain containing ion transport regulator 3
Gene Type protein-coding
Chromosomal Location 19q13.12
NCBI Gene ID 5349 ncbi.nlm.nih.gov/gene/5349
Ensembl ID ENSG00000105699
UniProt ID Q14802
OMIM ID 604535
HGNC ID 4026
Aliases MAT8, PLML

Description

FXYD3 (FXYD domain containing ion transport regulator 3), also known as MAT8, is a member of the FXYD family of small ion transport regulators. It modulates the activity of Na+/K+-ATPase and is implicated in cell adhesion, migration, and cancer progression. FXYD3 is overexpressed in several carcinomas, including breast, lung, and pancreatic cancers, and is considered a potential biomarker.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast carcinoma Overexpression of FXYD3 correlates with poor prognosis and may promote cell migration PMID: 19029981
Non-small cell lung cancer Upregulation associated with tumor progression and metastasis PMID: 21804532
Pancreatic ductal adenocarcinoma FXYD3 overexpression linked to aggressive phenotype and shorter survival PMID: 23359680
Gastric cancer Increased expression associated with lymph node metastasis PMID: 25636567

Expression Profile

Tissue Expression
Tissue nTPM level
Breast 12.5 Medium
Lung 8.3 Low
Pancreas 15.2 Medium
Stomach 9.7 Low
Colon 6.1 Low
Cell Line Expression
Cell Line nTPM Notes
MCF7 (breast cancer) 18.4 High expression
A549 (lung cancer) 11.2 Moderate expression
PANC-1 (pancreatic cancer) 22.0 High expression
HeLa (cervical cancer) 5.3 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G missense <0.1% Unknown functional impact
c.74C>T missense <0.1% Unknown functional impact
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in FXYD3.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported; overexpression is primarily transcriptional.

Dominant Negative (DN)

No dominant-negative mutations described for FXYD3.

Gene Ontology (GO)

• ion channel regulator activity • plasma membrane
• integral component of membrane • regulation of ion transmembrane transport
• cell adhesion

Pathways

Na+/K+-ATPase regulation
Ion transport by P-type ATPases

Protein Summary

FXYD3 is a 87-amino acid single-pass transmembrane protein belonging to the FXYD family. It contains a conserved FXYD motif and modulates Na+/K+-ATPase activity by altering its affinity for ions. The protein is localized to the plasma membrane and plays roles in cell adhesion and migration. Overexpression in multiple cancers suggests a role in tumor progression.

Related Products

Product name Cat.No. Species Gene ID
FXYD3 Knockout HEK293 Cell Line EDJ-KQ50518 Human 5349 Details Get a Quote
FXYD3 Knockout HeLa Cell Line EDJ-KQ54158 Human 5349 Details Get a Quote
FXYD3 Knockout A-549 Cell Line EDJ-KQ62653 Human 5349 Details Get a Quote
FXYD3 Knockout HCT 116 Cell Line EDJ-KQ71120 Human 5349 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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