FXYD2
Sodium/potassium-transporting ATPase subunit gamma
Also known as: ATNG_HUMAN, ATP1G1, HOMG2, MGC12372
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P54710
- Gene
- FXYD2
- Ensembl
- ENSG00000137731
- Chromosome
- 11
- Canonical length
- 66 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Mitochondria
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
66 residues, UniProt reviewed canonical sequence.
>P54710|FXYD2
1 MTGLSMDGGG SPKGDVDPFY YDYETVRNGG LIFAGLAFIV GLLILLSRRF RCGGNKKRRQ
61 INEDEPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FXYD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.62
- Highest tissue expression
- 3,775 nTPM
Expression across tissuesHPA
Tissue
- kidney: 3,775 nTPM
- salivary gland: 785 nTPM
- pancreas: 577 nTPM
- gallbladder: 332 nTPM
- thymus: 70 nTPM
- liver: 23 nTPM
Single-cell type
- cholangiocytes: 1,857 nCPM
- epididymal efferent duct absorptive cells: 1,011 nCPM
- pancreatic duct cells: 207 nCPM
- epididymal clear cells: 165 nCPM
- distal convoluted tubule cells: 87 nCPM
- loop of henle epithelial cells: 69 nCPM
Immune cell
- memory CD8 T-cell: 15 nTPM
- NK-cell: 9.6 nTPM
- naive CD4 T-cell: 5.1 nTPM
- naive CD8 T-cell: 4.4 nTPM
- plasmacytoid DC: 3.8 nTPM
- total PBMC: 2.1 nTPM
Brain region
- cerebellum: 4.5 nTPM
- cerebral cortex: 4.5 nTPM
- basal ganglia: 3 nTPM
- white matter: 2.5 nTPM
- amygdala: 2.3 nTPM
- hippocampal formation: 2.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FXYD2.
Disease | AllUniProt
Conditions FXYD2 is implicated in, by any mechanism.
- Hypomagnesemia 2 (HOMG2) MIM:154020
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 90 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Renal hypomagnesemia 2
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.2
- gnomAD pLI
- 0.11
- gnomAD missense Z
- -0.16
- DepMap mean gene effect
- 0
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular hyperosmotic salinity response
- establishment or maintenance of transmembrane electrochemical gradient
- intracellular potassium ion homeostasis
- intracellular sodium ion homeostasis
- negative regulation of cell population proliferation
- positive regulation of sodium ion export across plasma membrane
- potassium ion import across plasma membrane
- proton transmembrane transport
- sodium ion export across plasma membrane
- transmembrane transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ion-transport regulator, FXYD family
- Ion-transport regulator, FXYD motif
- ATP1G1/PLM/MAT8 family
- Sodium/potassium-transporting ATPase subunit gamma
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FXYD2 as an antibody target. Whether an autoantibody or antibody against FXYD2 could matter depends on whether native FXYD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FXYD2 is annotated at the cell surface, where native FXYD2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label FXYD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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