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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FXYD2
FXYD domain containing ion transport regulator 2
Chromosome 11 · 11q23.3
NCBI Gene: 486Ensembl: ENSG00000137731.15HGNC: HGNC:4026UniProt: P54710
45PubMed Papers
21Diseases
6Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomesodium channel regulator activityprotein-macromolecule adaptor activityATPase activator activitycongestive heart failureatrial fibrillationheart failurerenal hypomagnesemia 2
✦AI Summary

FXYD2 is a small transmembrane regulatory protein that modulates Na,K-ATPase function across multiple physiological systems. As the gamma subunit of Na,K-ATPase, FXYD2 regulates ion transport by altering the enzyme's affinity for sodium and potassium ions while stabilizing the pump through interactions with phosphatidylserum and cholesterol 1. FXYD2 expression is particularly abundant in tissues with high active transport demands, including kidney, choroid plexus, placenta, and pancreatic tissue 2. Mechanistically, FXYD2 serves as an intermediary linking hormonal signaling to Na,K-ATPase regulation through phosphorylation by hormone-activated kinases 3. In pancreatic β cells, FXYD2 interacts with SRC kinase to regulate the FXYD2-SRC-TEAD1 signaling pathway, controlling genes necessary for glucose-stimulated insulin secretion and β cell maturation 4. FXYD2 dysfunction is associated with several disease states. Mutations in FXYD2 (G41R) cause autosomal dominant renal hypomagnesemia with hypocalciuria, where impaired FXYD2-Na,K-ATPase interaction leads to renal magnesium wasting 15. In neuropathic pain, FXYD2 loss efficiently alleviates mechanical hypersensitivity by modulating Aδ- and C-fiber mechanosensitivity 6. Elevated FXYD2 expression in cholangiocytes marks dysplasia risk in primary sclerosing cholangitis patients 7. These findings highlight FXYD2's critical role in controlling cellular ion homeostasis and its therapeutic potential in metabolic, renal, and pain disorders.

Sources cited
1
FXYD2 serves as intermediary linking hormonal signaling to Na,K-ATPase regulation through phosphorylation
PMID: 39769162
2
FXYD2 marks β cell maturation and regulates glucose-stimulated insulin secretion via FXYD2-SRC-TEAD1 signaling
PMID: 40467586
3
FXYD2 mutations (G41R) cause hypomagnesemia by impairing interactions with Na,K-ATPase and destabilizing the pump
PMID: 30175537
4
Patient cells with FXYD2 mutation show reduced upregulation of FXYD2 and Na,K-ATPase in response to hyperosmotic stress
PMID: 19865785
5
FXYD2 is abundantly expressed in kidney and choroid plexus, with moderate expression in pancreas and placenta
PMID: 19879113
6
High FXYD2 expression in cholangiocytes marks dysplasia in primary sclerosing cholangitis patients
PMID: 39160386
7
FXYD2 loss alleviates mechanical hypersensitivity in neuropathic pain by modulating Aδ- and C-fiber mechanosensitivity
PMID: 27805035
Disease Associationsⓘ21
congestive heart failureOpen Targets
0.60Moderate
atrial fibrillationOpen Targets
0.59Moderate
heart failureOpen Targets
0.58Moderate
renal hypomagnesemia 2Open Targets
0.55Moderate
cardiovascular diseaseOpen Targets
0.55Moderate
Autosomal dominant primary hypomagnesemia with hypocalciuriaOpen Targets
0.52Moderate
ArrhythmiaOpen Targets
0.50Moderate
type 2 diabetes mellitusOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
Supraventricular tachycardiaOpen Targets
0.26Weak
neuroinflammatory disorderOpen Targets
0.23Weak
genetic disorderOpen Targets
0.15Weak
diabetes mellitusOpen Targets
0.14Weak
nerve plexus diseaseOpen Targets
0.12Weak
breast cancerOpen Targets
0.09Suggestive
severe pre-eclampsiaOpen Targets
0.09Suggestive
refractive errorOpen Targets
0.09Suggestive
ShockOpen Targets
0.09Suggestive
myopiaOpen Targets
0.09Suggestive
prostate cancerOpen Targets
0.08Suggestive
Hypomagnesemia 2UniProt
Pathogenic Variants1
NM_001680.5(FXYD2):c.121G>A (p.Gly41Arg)Pathogenic
Renal hypomagnesemia 2|not provided
★☆☆☆2022→ Residue 41
View on ClinVar ↗
Drug Targets6
ACETYLDIGITOXINApproved
Sodium/potassium-transporting ATPase inhibitor
cardiovascular disease
DESLANOSIDEApproved
Sodium/potassium-transporting ATPase inhibitor
cardiovascular disease
DIGITOXINApproved
Sodium/potassium-transporting ATPase inhibitor
cardiovascular disease
DIGOXINApproved
Sodium/potassium-transporting ATPase inhibitor
heart failure
ISTAROXIMEPhase II
Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 activator
heart disease
LANATOSIDE CApproved
Sodium/potassium-transporting ATPase inhibitor
cardiovascular disease
Related Genes
ATP4BProtein interaction100%CLDN19Protein interaction100%MAPK3Protein interaction99%CLDN16Protein interaction92%PRKG1Protein interaction91%ATP1A1Protein interaction90%
Tissue Expression6 tissues
Ovary
100%
Liver
53%
Bone Marrow
37%
Heart
13%
Lung
9%
Brain
3%
Gene Interaction Network
Click a node to explore
FXYD2ATP4BCLDN19MAPK3CLDN16PRKG1ATP1A1
PROTEIN STRUCTURE
Preparing viewer…
PDB7E20 · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.69 [0.40–1.24]
RankingsWhere FXYD2 stands among ~20K protein-coding genes
  • #9,451of 20,598
    Most Researched45
  • #322of 1,025
    FDA-Approved Drug Targets5
  • #5,130of 5,498
    Most Pathogenic Variants1
  • #13,066of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedFXYD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Molecular Basis of Na, K-ATPase Regulation of Diseases: Hormone and FXYD2 Interactions.
PMID: 39769162
Int J Mol Sci · 2024
1.00
2
FXYD2 marks and regulates maturity of β cells via ion channel-mediated signal transduction.
PMID: 40467586
Nat Commun · 2025
0.90
3
Renal Mg handling, FXYD2 and the central role of the Na,K-ATPase.
PMID: 30175537
Physiol Rep · 2018
0.80
4
FXYD2 and Na,K-ATPase expression in isolated human proximal tubular cells: disturbed upregulation on renal hypomagnesemia?
PMID: 19865785
J Membr Biol · 2009
0.70
5
Differential cellular expression of FXYD1 (phospholemman) and FXYD2 (gamma subunit of Na, K-ATPase) in normal human tissues: a study using high density human tissue microarrays.
PMID: 19879113
Ann Anat · 2010
0.60