| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase. SUBUNIT: Composed of three subunits: alpha (catalytic), beta and gamma. SUBCELLULAR LOCATION: Membrane; Single-pass type III membrane protein (Potential). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=A; IsoId=P54710-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P54710-2; Sequence=VSP_001580; TISSUE SPECIFICITY: Expressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron epithelial cells. DISEASE: Defects in FXYD2 are the cause of hypomagnesemia type 2 (HOMG2) [MIM:154020]; also known as dominant renal hypomagnesemia or hypomagnesemia with hypocalciuria. HOMG2 is 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. SIMILARITY: Belongs to the FXYD family. SEQUENCE CAUTION: Sequence=AAB09425.1; Type=Frameshift; Positions=12; Sequence=CAA60152.1; Type=Erroneous translation; Note=Wrong choice of frame; GENE SYNONYMS:FXYD2 ATP1C ATP1G1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 66 AA; 7283 MW; D00F21B5C01ACE75 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:4026,
urn:biopax:RelationshipXref:NCBI GENE_486,
urn:biopax:RelationshipXref:REFSEQ_NP_001671,
urn:biopax:RelationshipXref:REFSEQ_NP_067614,
urn:biopax:UnificationXref:UNIPROT_P54710,
urn:biopax:UnificationXref:UNIPROT_Q15332,
urn:biopax:UnificationXref:UNIPROT_Q53YC1,
urn:biopax:UnificationXref:UNIPROT_Q9GZP3,
urn:biopax:UnificationXref:UNIPROT_Q9GZQ7
|
| biopax3:displayName |
ATNG_HUMAN
|
| biopax3:name |
FXYD domain-containing ion transport regulator 2,
FXYD2,
Na(+)/K(+) ATPase subunit gamma,
Sodium pump gamma chain
|
| biopax3:organism | |
| biopax3:sequence |
MTGLSMDGGGSPKGDVDPFYYDYETVRNGGLIFAGLAFIVGLLILLSRRFRCGGNKKRRQINEDEP
|
| biopax3:standardName |
Sodium/potassium-transporting ATPase subunit gamma
|