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FXYD2

From Wikipedia, the free encyclopedia
FXYD2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFXYD2, ATP1G1, HOMG2, FXYD domain containing ion transport regulator 2
External IDsOMIM: 601814; MGI: 1195260; HomoloGene: 86992; GeneCards: FXYD2; OMA:FXYD2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021603
NM_001127489
NM_001680

NM_007503
NM_052823

RefSeq (protein)

NP_001671
NP_067614

NP_031529
NP_439888
NP_001391593

Location (UCSC)Chr 11: 117.8 – 117.83 MbChr 9: 45.31 – 45.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium/potassium-transporting ATPase gamma chain is a protein that in humans is encoded by the FXYD2 gene.[5][6][7]

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.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000137731Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000059412Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: FXYD2 FXYD domain containing ion transport regulator 2".

Further reading

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