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MGP005549

UniProt Annotations

Entry Information

Gene Name	solute carrier family 2 (facilitated glucose transporter), member 9
Protein Entry	GTR9_HUMAN
UniProt ID	Q9NRM0
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=SLC2A9-L; IsoId=Q9NRM0-1; Sequence=Displayed; Name=2; Synonyms=GLUT9deltaN, SLC2A9-S; IsoId=Q9NRM0-2; Sequence=VSP_034860; Note=Variant in position: 17:A->T (in dbSNP:6820230).;
Disease	Hypouricemia renal 2 (RHUC2) [MIM:612076]: A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. {ECO:0000269\|PubMed:19026395, ECO:0000269\|PubMed:19926891, ECO:0000269\|PubMed:21810765}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Transport urate and fructose. May have a role in the urate reabsorption by proximal tubules. Also transports glucose at low rate. {ECO:0000269\|PubMed:14739288, ECO:0000269\|PubMed:18327257}.
Polymorphism	Genetic variations in SLC2A9 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 2 (UAQTL2) [MIM:612076]. Excess serum accumulation of uric acid can lead to the development of gout.
Similarity	Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO:0000305}.
Subcellular Location	Isoform 1: Basolateral cell membrane {ECO:0000269\|PubMed:14739288, ECO:0000269\|PubMed:24409316}; Multi- pass membrane protein {ECO:0000269\|PubMed:14739288}.
Subcellular Location	Isoform 2: Apical cell membrane {ECO:0000269\|PubMed:24409316}; Multi-pass membrane protein. Basolateral cell membrane {ECO:0000269\|PubMed:14739288, ECO:0000269\|PubMed:24409316}; Multi-pass membrane protein {ECO:0000269\|PubMed:14739288}.
Tissue Specificity	Most strongly expressed in basolateral membranes of proximal renal tubular cells, liver and placenta. Also detected in lung, blood leukocytes, heart skeletal muscle and chondrocytes from articular cartilage. Isoform 2 is only detected in the apical membranes of polarized renal tubular cells and placenta. Isoform 1 and isoform 2 are detected in kidney membrane (at protein level). {ECO:0000269\|PubMed:11991658, ECO:0000269\|PubMed:24409316}.