FXYD6
FXYD Domain Containing Ion Transport Regulator 6
Gene Information Card
| Symbol | FXYD6 |
|---|---|
| Full Name | FXYD domain containing ion transport regulator 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 53826 ncbi.nlm.nih.gov/gene/53826 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q9H0Q3 |
| OMIM ID | 606683 |
| HGNC ID | 4029 |
| Aliases | FXYD6, PLML, UNQ519/PRO1032 |
Description
FXYD6 is a member of the FXYD family of small ion transport regulators, characterized by a conserved FXYD motif. It modulates the activity of the Na+/K+-ATPase, influencing ion transport and cellular excitability. The gene is expressed in various tissues, with notable levels in the brain and kidney, and has been implicated in neurological and renal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered Na+/K+-ATPase regulation affecting neuronal excitability | Association studies (PMID: 19012866) |
| Bipolar disorder | Potential dysregulation of ion transport in neurons | Genetic association (PMID: 20080012) |
| Renal cell carcinoma | Overexpression linked to tumor progression | Expression analysis (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Heart | 5.1 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 10.8 | Neuronal model |
| A549 | 4.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.345G>A (p.Arg115His) | Missense | 0.005% (gnomAD) | Potential loss of regulatory function |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce Na+/K+-ATPase modulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
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
• Ion transport by P-type ATPases
Protein Summary
FXYD6 is a small transmembrane protein (approximately 95 amino acids) that belongs to the FXYD family. It interacts with the Na+/K+-ATPase alpha subunit to modulate ion pump activity, particularly in excitable tissues. The protein contains a single transmembrane domain and the signature FXYD motif (Phe-X-Tyr-Asp) near the N-terminus. Its expression in brain and kidney suggests roles in neuronal signaling and renal ion homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FXYD6 Knockout HEK293 Cell Line | EDC90062 | Human | 53826 | Details Get a Quote |
| FXYD6-FXYD2 Knockout HEK293 Cell Line | EDJ-KQ52505 | Human | 100533181 | Details Get a Quote |
| FXYD6 Knockout HeLa Cell Line | EDJ-KQ56379 | Human | 53826 | Details Get a Quote |
| FXYD6-FXYD2 Knockout HeLa Cell Line | EDJ-KQ60970 | Human | 100533181 | Details Get a Quote |
| FXYD6 Knockout A-549 Cell Line | EDJ-KQ64870 | Human | 53826 | Details Get a Quote |
| FXYD6-FXYD2 Knockout A-549 Cell Line | EDJ-KQ69445 | Human | 100533181 | Details Get a Quote |
| FXYD6 Knockout HCT 116 Cell Line | EDC08292 | Human | 53826 | Details Get a Quote |
| FXYD6-FXYD2 Knockout HCT 116 Cell Line | EDJ-KQ77796 | Human | 100533181 | Details Get a Quote |
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