FXYD4
FXYD Domain Containing Ion Transport Regulator 4
Gene Information Card
| Symbol | FXYD4 |
|---|---|
| Full Name | FXYD Domain Containing Ion Transport Regulator 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 53827 ncbi.nlm.nih.gov/gene/53827 |
| Ensembl ID | ENSG00000120068 |
| UniProt ID | P59646 |
| OMIM ID | 601814 |
| HGNC ID | 4028 |
| Aliases | CHIF, FXYD4a, FXYD4b |
Description
FXYD4 (FXYD Domain Containing Ion Transport Regulator 4) encodes a member of the FXYD family of small ion transport regulators. The protein, also known as CHIF (corticosteroid hormone-induced factor), modulates the activity of the Na+/K+-ATPase pump by altering its affinity for sodium and potassium ions. It is primarily expressed in kidney and colon, where it plays a role in electrolyte homeostasis under the regulation of corticosteroids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered Na+/K+-ATPase regulation may contribute to blood pressure dysregulation | PMID: 14561774 |
| Renal electrolyte disorders | Dysregulation of FXYD4 expression affects sodium reabsorption in kidney | PMID: 12615922 |
| Colonic disorders | Expression changes in colon may impact fluid and electrolyte balance | PMID: 10887186 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Colon | 8.3 | Low |
| Small intestine | 5.1 | Low |
| Liver | 0.2 | Not detected |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in transfected cells |
| Caco-2 | 7.2 | Colonic epithelial cell line |
| HK-2 | 10.8 | Kidney proximal tubule cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional effect |
| c.100C>T | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:14797 (Na+/K+-ATPase regulation)
• WP:WP124 (Ion transport by P-type ATPases)
Protein Summary
The FXYD4 protein (CHIF) is a 89-amino acid single-pass transmembrane protein that belongs to the FXYD family. It associates with the Na+/K+-ATPase alpha subunit to modulate pump kinetics, increasing the affinity for sodium ions and decreasing affinity for potassium ions. This regulation is critical for sodium reabsorption in kidney and colon, particularly under aldosterone stimulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FXYD4 Knockout HEK293 Cell Line | EDJ-KQ51353 | Human | 53828 | Details Get a Quote |
| FXYD4 Knockout HeLa Cell Line | EDJ-KQ56380 | Human | 53828 | Details Get a Quote |
| FXYD4 Knockout A-549 Cell Line | EDJ-KQ64871 | Human | 53828 | Details Get a Quote |
| FXYD4 Knockout HCT 116 Cell Line | EDJ-KQ73316 | Human | 53828 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
