Homo sapiens Protein: FXYD2
Summary
InnateDB Protein IDBP-73307.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FXYD2
Protein Name FXYD domain containing ion transport regulator 2
Synonyms ATP1G1; HOMG2;
Species Homo sapiens
Ensembl Protein ENSP00000292079
InnateDB Gene IDBG-73303 (FXYD2)
Protein Structure
UniProt Annotation
Function May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase.
Subcellular Localization Membrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}.
Disease Associations Hypomagnesemia 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:0000269PubMed:11062458}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron epithelial cells.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005216 ion channel activity
GO:0005391 sodium:potassium-exchanging ATPase activity
GO:0005515 protein binding
Biological Process
GO:0001558 regulation of cell growth
GO:0006810 transport
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0006814 sodium ion transport
GO:0034220 ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0042127 regulation of cell proliferation
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005890 sodium:potassium-exchanging ATPase complex
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000272 Ion-transport regulator, FXYD motif
PFAM PF02038
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P54710
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 486
UniGene
RefSeq NP_001671
HUGO HGNC:4026
OMIM 601814
CCDS CCDS8386
HPRD 03487
IMGT
EMBL AF241235 AF241236 AF316896 BC005302 BC013289 BT006721 U50743 X86400
GenPept AAB09425 AAG34359 AAG34360 AAG34361 AAG37906 AAG37907 AAH05302 AAH13289 AAP35367 CAA60152