FXYD2
FXYD Domain Containing Ion Transport Regulator 2
Gene Information Card
| Symbol | FXYD2 |
|---|---|
| Full Name | FXYD Domain Containing Ion Transport Regulator 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 486 ncbi.nlm.nih.gov/gene/486 |
| Ensembl ID | ENSG00000137731 |
| UniProt ID | P54710 |
| OMIM ID | 601814 |
| HGNC ID | 4026 |
| Aliases | ATP1G1, MGC12372, Na+/K+ ATPase gamma subunit |
Description
FXYD2 encodes the gamma subunit of the Na+/K+ ATPase, a transmembrane protein that regulates ion transport by modulating the pump's affinity for sodium and potassium ions. Mutations in FXYD2 are associated with primary hypomagnesemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary hypomagnesemia (HOMG2) | Loss-of-function mutations impair Na+/K+ ATPase activity, reducing renal magnesium reabsorption. | OMIM #154020; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate expression |
| HepG2 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Gly82Arg) | Missense | Rare | Reduces Na+/K+ ATPase activity, leading to hypomagnesemia |
| c.121C>T (p.Arg41Trp) | Missense | Rare | Impaired ion transport regulation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly82Arg) reduce Na+/K+ ATPase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • sodium:potassium-exchanging ATPase activity |
| • ion transmembrane transport | • plasma membrane |
Pathways
• Na+/K+ ATPase regulation
• Ion transport by P-type ATPases
Protein Summary
The FXYD2 protein is a small single-pass transmembrane protein that acts as a regulatory subunit of the Na+/K+ ATPase. It modulates the pump's affinity for ions, particularly in renal tubules, and is critical for magnesium homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FXYD2 Knockout HEK293 Cell Line | EDJ-KQ50139 | Human | 486 | Details Get a Quote |
| FXYD6-FXYD2 Knockout HEK293 Cell Line | EDJ-KQ52505 | Human | 100533181 | Details Get a Quote |
| FXYD2 Knockout HeLa Cell Line | EDJ-KQ52684 | Human | 486 | Details Get a Quote |
| FXYD6-FXYD2 Knockout HeLa Cell Line | EDJ-KQ60970 | Human | 100533181 | Details Get a Quote |
| FXYD2 Knockout A-549 Cell Line | EDJ-KQ61155 | Human | 486 | Details Get a Quote |
| FXYD6-FXYD2 Knockout A-549 Cell Line | EDJ-KQ69445 | Human | 100533181 | Details Get a Quote |
| FXYD2 Knockout HCT 116 Cell Line | EDJ-KQ69643 | Human | 486 | Details Get a Quote |
| FXYD6-FXYD2 Knockout HCT 116 Cell Line | EDJ-KQ77796 | Human | 100533181 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
