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FLASH GENE

Symbol

SLC2A9

contributors: mct/npt - updated : 14-12-2013

HGNC name	solute carrier family 2 (facilitated glucose transporter), member 9
HGNC id	13446

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RHU2 renal hypouricemia 2
Location	4p16.1      Physical location : 9.827.849 - 10.041.872
Synonym name	urate voltage-driven efflux transporter 1
	human glucose transporter-like protein-9
Synonym symbol(s)	GLUT9, GLUTX, GTR9, URATv1, UAQTL2

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	214.03 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	with three transcripts

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020041 12 - 1874 NP_064425 - 540 . mainly localized to the membrane of proximal tubular kidney cells, the placenta, the liver, and to a lesser extent the lung, leukocytes, chrondrocytes and brain . most strongly expressed in basolateral membranes of proximal renal tubular cells, in liver and placenta . basolateral localization 2014 24409316 has a putative di-leucine motif at 33th and 34th leucine, deletion of the motif or replacement of leucine did not affect its subcellular localization also called variant 1 or GLUT9L is likely to responsible for urate reabsorption NM_001001290 13 - 1885 NP_001001290 - 512 . prominently expressed in the kidney, expressed in the apical side of the collecting duct . seems to be expressed only in the apical membranes of polarized renal tubular cells and in placenta 2014 24409316 variant 2 or GLUT9deltaN or GLUT9S association between the SLC2A9 isoform 2 and urate concentrations apical localization

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive pharynx         Nervous plexus choroid         Homo sapiens Reproductive female system ovary       Urinary kidney tubule convoluted tubule proximal tubule

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Connective cartilage       Homo sapiens Muscular smooth vessel     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Nervous ependymal cell Homo sapiens Nervous epithelial cell Homo sapiens not specific chondrocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain having a unique regulatory function and the potential to interact with small negatively charged ions like iodide
	characteristic 12 transmembrane helices
	sugar transporter motifs and other signatures of facilitated sugar transporters
	although it lacks the features of a high-affinity glucose transporter, suggesting alternative substrates

HOMOLOGY

interspecies

homolog to murine slc2a9

intraspecies

homolog to GLUT1,GLUT5

Homologene

FAMILY	major facilitator superfamily
	sugar transporter family
	glucose transporter subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	playing a role in maintaining glucose homeostasis
	involvement of the protein in uric acid excretion in the kidney
	a fructose and a urate transporter
	play a key role in urate reabsorption on both urine and blood sides of the renal proximal tubules
	directly regulates plasma uric acid (urate) levels by transporting uric acid out of the tubular cell, in a voltage-driven manne (Houlihan 2010)
	link between cognitive ability in old age, in particular memory performance, to SLC2A9 (Houlihan 2010)
	SLC2A9 mediated the uptake of adenine in addition to urate, but did not function as a generalized nucleobase transporter
	play key roles in the regulation of plasma urate levels and are therefore potentially important participants in hyperuricemia and hypouricemia
	evidence for SLC2A9 and SLC2A12 expression in vascular smooth muscle cells (VSMCs) in conjunction with the previously identified SLC2A1 and SLC2A10
	is an essential protein that mainly regulates urate/hexose homeostasis in human kidney and liver
	SLC2A9 transports both urate and fructose, but it interacts with them in different ways
	is unique in that it transports hexoses as well as the organic anion, urate
	urate transport in SLC2A9 involves several structural elements rather than just a unique substrate binding pocket
	is a crucial player in renal handling of urate
	high&
	8209;capacity glucose and urate transporter

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

facilitated diffusion transport

PATHWAY

metabolism

carbohydrate

signaling

TP53-SLC2A9 pathway is a novel antioxidant mechanism that uses uric acid to maintain ROS homeostasis and prevent accumulation of ROS-associated damage that potentially contributes to cancer development

a component

INTERACTION

DNA

RNA

small molecule

protein	functional cooperation of SLC22A12 and SLC22A9 is essential for renal reabsorption of urate, and in the established system influence of drugs on serum urate (SUA) is reflected in the alteration of urate permeability across the renal tubular epithelial cells
	HNF4A contributes to the transcriptional regulation of SLC2A9

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RHU2

Susceptibility

to gout to hyperuricemia

Variant & Polymorphism SNP , other	significant association between the SLC2A9 isoform 2 and urate concentrations and gout
	genetic variants significantly associated with uric acid levels, association strongly modified by age and sex (Brandstätter 2009)
	some of SNP in SLC2A9 may increase the risk of hyperuricemia

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed metabolism uric acid   can be a promising therapeutic target for hyperuricemia, gout, and related cardiovascular diseases

ANIMAL & CELL MODELS

	mice carrying a deletion of Glut9 in the whole body are hyperuricemic and display a severe nephropathy due to intratubular uric acid precipitation
	Glut9-deficient mice develop impaired enterocyte uric acid transport kinetics, hyperuricaemia, hyperuricosuria, spontaneous hypertension, dyslipidaemia and elevated body fat