FXYD2

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FXYD domain containing ion transport regulator 2
Identifiers
Symbols FXYD2 ; ATP1G1; HOMG2; MGC12372
External IDs Template:OMIM5 HomoloGene86992
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

FXYD domain containing ion transport regulator 2, also known as FXYD2, is a human gene.[1]

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The Type III integral membrane protein encoded by this gene is the gamma subunit of the Na,K-ATPase present on the plasma membrane. Although the Na,K-ATPase does not depend on the gamma subunit to be functional, it is thought that the gamma subunit modulates the enzyme's activity by inducing ion channel activity. Mutations in this gene have been associated with renal hypomagnesaemia.[1]

References

  1. 1.0 1.1 "Entrez Gene: FXYD2 FXYD domain containing ion transport regulator 2".

Further reading

  • Adams MD, Kerlavage AR, Fleischmann RD; et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence". Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
  • Austruy E, Cohen-Salmon M, Antignac C; et al. (1993). "Isolation of kidney complementary DNAs down-expressed in Wilms' tumor by a subtractive hybridization approach". Cancer Res. 53 (12): 2888–94. PMID 7916648.
  • Kim JW, Lee Y, Lee IA; et al. (1997). "Cloning and expression of human cDNA encoding Na+, K(+)-ATPase gamma-subunit". Biochim. Biophys. Acta. 1350 (2): 133–5. PMID 9048881.
  • Therien AG, Goldshleger R, Karlish SJ, Blostein R (1998). "Tissue-specific distribution and modulatory role of the gamma subunit of the Na,K-ATPase". J. Biol. Chem. 272 (51): 32628–34. PMID 9405479.
  • Annabi B, Hiraiwa H, Mansfield BC; et al. (1998). "The gene for glycogen-storage disease type 1b maps to chromosome 11q23". Am. J. Hum. Genet. 62 (2): 400–5. PMID 9463334.
  • Minor NT, Sha Q, Nichols CG, Mercer RW (1998). "The gamma subunit of the Na,K-ATPase induces cation channel activity". Proc. Natl. Acad. Sci. U.S.A. 95 (11): 6521–5. PMID 9600999.
  • Meij IC, Saar K, van den Heuvel LP; et al. (1999). "Hereditary isolated renal magnesium loss maps to chromosome 11q23". Am. J. Hum. Genet. 64 (1): 180–8. PMID 9915957.
  • Arystarkhova E, Wetzel RK, Asinovski NK, Sweadner KJ (1999). "The gamma subunit modulates Na(+) and K(+) affinity of the renal Na,K-ATPase". J. Biol. Chem. 274 (47): 33183–5. PMID 10559186.
  • Sweadner KJ, Rael E (2001). "The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression". Genomics. 68 (1): 41–56. doi:10.1006/geno.2000.6274. PMID 10950925.
  • Meij IC, Koenderink JB, van Bokhoven H; et al. (2000). "Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit". Nat. Genet. 26 (3): 265–6. doi:10.1038/81543. PMID 11062458.
  • Sweadner KJ, Wetzel RK, Arystarkhova E (2001). "Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase". Biochem. Biophys. Res. Commun. 279 (1): 196–201. doi:10.1006/bbrc.2000.3907. PMID 11112438.
  • Arystarkhova E, Wetzel RK, Sweadner KJ (2002). "Distribution and oligomeric association of splice forms of Na(+)-K(+)-ATPase regulatory gamma-subunit in rat kidney". Am. J. Physiol. Renal Physiol. 282 (3): F393–407. doi:10.1152/ajprenal.00146.2001. PMID 11832419.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Zouzoulas A, Therien AG, Scanzano R; et al. (2003). "Modulation of Na,K-ATPase by the gamma subunit: studies with transfected cells and transmembrane mimetic peptides". J. Biol. Chem. 278 (42): 40437–41. doi:10.1074/jbc.M308610200. PMID 12907667.
  • Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Gegelashvili M, Rodriguez-Kern A, Sung L; et al. (2007). "Glutamate transporter GLAST/EAAT1 directs cell surface expression of FXYD2/gamma subunit of Na, K-ATPase in human fetal astrocytes". Neurochem. Int. 50 (7–8): 916–20. doi:10.1016/j.neuint.2006.12.015. PMID 17316900.

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