MGP Database

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MGP000243

UniProt Annotations

Entry Information
Gene NameFXYD domain containing ion transport regulator 2
Protein EntryATNG_HUMAN
UniProt IDP54710
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=A; IsoId=P54710-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P54710-2; Sequence=VSP_001580;
DiseaseHypomagnesemia 2 (HOMG2) [MIM:154020]: A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria. {ECO:0000269|PubMed:11062458}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMay be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase.
Sequence CautionSequence=AAB09425.1; Type=Frameshift; Positions=12; Evidence={ECO:0000305}; Sequence=CAA60152.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
SimilarityBelongs to the FXYD family. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}.
SubunitComposed of three subunits: alpha (catalytic), beta and gamma.
Tissue SpecificityExpressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron epithelial cells.
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