FXYD7
FXYD Domain Containing Ion Transport Regulator 7
Gene Information Card
| Symbol | FXYD7 |
|---|---|
| Full Name | FXYD Domain Containing Ion Transport Regulator 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 53822 ncbi.nlm.nih.gov/gene/53822 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9Y2G2 |
| OMIM ID | 606215 |
| HGNC ID | 4029 |
| Aliases | MGC117188, MGC117189 |
Description
FXYD7 is a member of the FXYD family of small ion transport regulators. It encodes a transmembrane protein that functions as a tissue-specific regulator of the Na+/K+-ATPase, primarily in the brain. FXYD7 modulates the affinity of the sodium pump for potassium ions, thereby influencing neuronal excitability and ion homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.2 | Medium |
| Cerebral cortex | 11.8 | Medium |
| Heart | 1.2 | Low |
| Kidney | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.5 | Moderate expression |
| U-87 MG (glioblastoma) | 6.2 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar or COSMIC | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function mutations reported.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ion transport | • sodium:potassium-exchanging ATPase complex |
| • regulation of ion transmembrane transport | • plasma membrane |
Pathways
• Na+/K+-ATPase regulation
Protein Summary
FXYD7 is a 95-amino acid single-pass transmembrane protein belonging to the FXYD family. It is predominantly expressed in the brain, where it associates with the Na+/K+-ATPase alpha subunit to modulate pump kinetics. Specifically, FXYD7 increases the apparent affinity for extracellular potassium, which is critical for maintaining ion gradients during neuronal activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FXYD7 Knockout HEK293 Cell Line | EDJ-KQ51351 | Human | 53822 | Details Get a Quote |
| FXYD7 Knockout HeLa Cell Line | EDJ-KQ56378 | Human | 53822 | Details Get a Quote |
| FXYD7 Knockout A-549 Cell Line | EDJ-KQ64869 | Human | 53822 | Details Get a Quote |
| FXYD7 Knockout HCT 116 Cell Line | EDJ-KQ73314 | Human | 53822 | Details Get a Quote |
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