FXYD2 Gene Summary [Human]
This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011]
Details
| Type | Processed Transcript |
| Official Symbol | FXYD2 |
| Official Name | FXYD domain containing ion transport regulator 2 [Source:HGNC Symbol;Acc:HGNC:4026] |
| Ensembl ID | ENSG00000137731 |
| Bio databases IDs | |
| Aliases | FXYD domain containing ion transport regulator 2 |
| Synonyms | ATP1C, ATP1G1, FXYD domain-containing ion transport regulator 2, GNAKATP, HOMG2, Na,K-ATPase γ subunit, Na+ K+ Atpase γ Subunit, Na+/K+ ATPase γ subunit |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FXYD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase stimulator
- ATP1G1/PLM/MAT8 family
- protein binding activity, bridging
- sodium channel regulator
- protein binding
- phenylalanine-X-tyrosine-aspartate (FXYD) family
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- epithelial cancer
- Wilms tumor
- Wilms tumorigenesis
- diabetic nephropathy
- hyperplasia
- congenital hydrocephalus
- hyperinsulinism
- renal hypomagnesemia type 2
- myopia
role in cell
- growth
- phosphorylation in
- proliferation
- mass
- inactivation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- plasma membrane fraction
- membrane fraction
- Cytoplasm
- cell periphery
- cellular membrane
- microsome
- apical membrane
- caveolae
- basolateral membrane
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FXYD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular potassium ion homeostasis
- transmembrane transport
- regulation of sodium ion transmembrane transporter activity
- establishment or maintenance of transmembrane electrochemical gradient
- cellular sodium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- sodium:potassium-exchanging ATPase complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- sodium channel regulator activity
- protein binding, bridging
- ATPase activator activity