InnateDB Protein
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IDBP-598201.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FXYD2
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Protein Name
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FXYD domain containing ion transport regulator 2
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Synonyms
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ATP1G1; HOMG2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000432430
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InnateDB Gene
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IDBG-73303 (FXYD2)
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Protein Structure
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Function |
May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase.
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}.
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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.
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Tissue Specificity |
Expressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron epithelial cells.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000272
Ion-transport regulator, FXYD motif
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PFAM |
PF02038
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P54710
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
486
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UniGene |
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RefSeq |
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HUGO |
HGNC:4026
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OMIM |
601814
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CCDS |
CCDS8385
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HPRD |
03487
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IMGT |
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EMBL |
AF241235
AF241236
AF316896
BC005302
BC013289
BT006721
U50743
X86400
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GenPept |
AAB09425
AAG34359
AAG34360
AAG34361
AAG37906
AAG37907
AAH05302
AAH13289
AAP35367
CAA60152
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