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Gene Review

FXYD2  -  FXYD domain containing ion transport...

Homo sapiens

Synonyms: ATP1C, ATP1G1, FXYD domain-containing ion transport regulator 2, HOMG2, MGC12372, ...
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High impact information on FXYD2

  • It is suggested that structural association of the TM regions of alpha and FXYD 2 is not the sole determinant of this effect of FXYD on KNa' but is subject to long range modulation by the extramembranous L7/8 loop of alpha [1].
  • Sodium and potassium-exchanging adenosine triphosphatase (Na,K-ATPase) in the kidney is associated with the gamma subunit (gamma, FXYD2), a single-span membrane protein that modulates ATPase properties [2].
  • Isolated hereditary renal magnesium (Mg) wasting may result from mutations in the renal tubular epithelial cell tight junction protein paracellin-1 gene or the tubular Na(+),K(+)-ATPase gamma-subunit gene FXYD2 [3].
  • The defective FXYD2 gene in these families mapped to chromosome 11q23 [3].
  • The FXYD2 gene was implicated in autosomal dominant renal Mg(2+) wasting associated with hypocalciuria [4].

Biological context of FXYD2

  • In the FXYD2 gene, there are two closely spaced polyadenylation signals, and both are used [5].
  • RESULTS: The phenotype of the new family closely resembles that of the known dominant families with a mutation in FXYD2, but mutations in this gene were not identified in the new family [4].
  • In addition, haplotype analysis excluded linkage to the FXYD2 region on chromosome 11q23 [4].
  • FXYD2 is on chromosome 11q23 close to a site of tumorigenic chromosomal translocations, and has a number of repeat elements [5].
  • Although the gamma subunit of the Na,K-ATPase has only 66 or 68 amino acids, its human gene (FXYD2) was found to span 9.2 kb and have seven exons, including two alternatively spliced exons encoding different N-termini [5].

Anatomical context of FXYD2

  • A marked induction of metallothioneins as well as ATP1G1 transcripts was detected in all patient cell lines [6].

Other interactions of FXYD2

  • Moreover, a mutation in FXYD2 has been linked to cases of human hypomagnesemia, indicating that perturbations in the regulation of Na-K-ATPase by FXYD proteins may be critically involved in pathophysiological states [7].


  1. Regions of the catalytic alpha subunit of Na,K-ATPase important for functional interactions with FXYD 2. Zouzoulas, A., Blostein, R. J. Biol. Chem. (2006) [Pubmed]
  2. Differential regulation of renal Na,K-ATPase by splice variants of the gamma subunit. Arystarkhova, E., Donnet, C., Asinovski, N.K., Sweadner, K.J. J. Biol. Chem. (2002) [Pubmed]
  3. Genetic heterogeneity in familial renal magnesium wasting. Kantorovich, V., Adams, J.S., Gaines, J.E., Guo, X., Pandian, M.R., Cohn, D.H., Rude, R.K. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  4. Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss. Meij, I.C., van den Heuvel, L.P., Hemmes, S., van der Vliet, W.A., Willems, J.L., Monnens, L.A., Knoers, N.V. Nephrol. Dial. Transplant. (2003) [Pubmed]
  5. Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase. Sweadner, K.J., Wetzel, R.K., Arystarkhova, E. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  6. Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. van der Westhuizen, F.H., van den Heuvel, L.P., Smeets, R., Veltman, J.A., Pfundt, R., van Kessel, A.G., Ursing, B.M., Smeitink, J.A. Neuropediatrics. (2003) [Pubmed]
  7. FXYD proteins: new regulators of Na-K-ATPase. Geering, K. Am. J. Physiol. Renal Physiol. (2006) [Pubmed]
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