SLC2A9
Protein name:
GLUT9
Aliases:
GLUTX, URATv1
Substrates:
urate (glucose, fructose)
Transport type:
N/D
Tissue and cellular expression:
kidney, liver, small intestine, placenta, lung, leucocytes
Subcellular expression:
N/D
Disease:
renal hypouricemia
Locus:
4p16-15.3
Sequence ID:
NP_001001290.1,
NM_001001290.1
NP_064425.2,
NM_020041.2
Gene ID:
56606
Splice variants:
2 splice variants
GTR9_HUMAN (UniProt)
Gene names:
SLC2A9, GLUT9
Protein names and data:
GTR9_HUMAN, Full=Solute carrier family 2, facilitated glucose transporter member 9, Full=Glucose transporter type 9;Short=GLUT-9;
Length: 540 a.a., Mass: 58702 Da,
fasta formatted sequence
Function:
Transport urate and fructose. May have a role in the urate reabsorption by proximal tubules. Also transports glucose at low rate
Disease:
(OMIM:
606142 612076)
Defects in SLC2A9 are the cause of hypouricemia renal type 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
Cellular location:
Membrane; Multi-pass membrane protein
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)
Database cross-references
UniProt:
Q9NRM0
NextBio:
62053
OMIM:
606142
612076
Ensembl:
ENST00000506583
GeneCard:
GC04M009772
TCDB:
2.A.1.1.72
PharmGenUCSF:
SLC2A9
Guide to Pharmacology:
SLC2A9 (882)
Class II transporters (882)
HGNC:
HGNC:13446
Genetic variants
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. See also Ensembl:ENST00000506583
22 - 22
S -> N. VAR_045648
25 - 25
G -> R (in dbSNP:rs2276961). VAR_012157
2276961
75 - 75
L -> R (in RHUC2; reduced urate transport activity). VAR_065772
125 - 125
T -> M (in RHUC2; markedly reduced urate transport activity). VAR_065773
171 - 171
R -> C (in RHUC2; markedly reduced urate transport activity). VAR_065774
191 - 191
E -> D. VAR_045649
198 - 198
R -> C (in RHUC2; markedly reduced urate transport activity). VAR_065775
216 - 216
G -> R. VAR_045650
275 - 275
T -> M. VAR_045651
281 - 281
D -> H. VAR_045652
282 - 282
V -> I (in dbSNP:rs16890979). VAR_012158
16890979
294 - 294
R -> H (in dbSNP:rs3733591). VAR_020337
3733591
300 - 300
R -> H. VAR_045653
350 - 350
P -> L (in dbSNP:rs2280205). VAR_012159
2280205
380 - 380
R -> W (in RHUC2; markedly reduced urate transport activity). VAR_065776