FXYD2

FXYD2
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 2MKV
Identifiers
Aliases	FXYD2 , ATP1G1, HOMG2, FXYD domain containing ion transport regulator 2
External IDs	OMIM: 601814 HomoloGene: 86992 GeneCards: FXYD2
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q23.3 Start 117,800,844 bp [1] End 117,828,698 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas gallbladder islet of Langerhans kidney minor salivary gland right lobe of liver left uterine tube lymph node spleen smooth muscle tissue n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transporter activity ion channel activity P-type sodium:potassium-exchanging transporter activity sodium channel regulator activity ion channel regulator activity Cellular component integral component of membrane membrane plasma membrane extracellular exosome integral component of plasma membrane sodium:potassium-exchanging ATPase complex basolateral plasma membrane intracellular membrane-bounded organelle Biological process regulation of cardiac conduction sodium ion transport sodium ion export across plasma membrane ion transport potassium ion transport ion transmembrane transport potassium ion import across plasma membrane establishment or maintenance of transmembrane electrochemical gradient regulation of cell growth regulation of cell population proliferation regulation of sodium ion transmembrane transporter activity transport regulation of ion transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 486 n/a Ensembl ENSG00000137731 n/a UniProt P54710 n/a RefSeq (mRNA) NM_021603 NM_001127489 NM_001680 n/a RefSeq (protein) NP_001671 NP_067614 n/a Location (UCSC) Chr 11: 117.8 – 117.83 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Sodium/potassium-transporting ATPase gamma chain is a protein that in humans is encoded by the FXYD2 gene. ^{[3] [4] [5]}

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. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000137731 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Kim JW, Lee Y, Lee IA, Kang HB, Choe YK, Choe IS (Apr 1997). "Cloning and expression of human cDNA encoding Na+, K(+)-ATPase gamma-subunit". Biochim Biophys Acta. 1350 (2): 133–5. doi:10.1016/S0167-4781(96)00219-9. PMID   9048881.
4. Meij IC, Saar K, van den Heuvel LP, Nuernberg G, Vollmer M, Hildebrandt F, Reis A, Monnens LA, Knoers NV (Mar 1999). "Hereditary isolated renal magnesium loss maps to chromosome 11q23". Am J Hum Genet. 64 (1): 180–8. doi:10.1086/302199. PMC   1377716 . PMID   9915957.
5. "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" (PDF). 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.
• 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. doi: 10.1074/jbc.272.51.32628 . 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. doi:10.1086/301727. PMC   1376902 . 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. Bibcode:1998PNAS...95.6521M. doi: 10.1073/pnas.95.11.6521 . PMC   27846 . PMID   9600999.
• 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. doi: 10.1074/jbc.274.47.33183 . 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. S2CID   44776577.
• 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. S2CID   21397539.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. PMC   528928 . 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. S2CID   9088824.