Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56606
Gene name	Solute carrier family 2 member 9
Gene symbol	SLC2A9
Synonyms (NCBI Gene)	GLUT9GLUTXUAQTL2URATv1
Chromosome	4
Chromosome location	4p16.1
Summary	This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cart

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908322	G>A	Pathogenic, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs121908323	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs372201423	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs776127501	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs863225072	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments	Reference
MIRT637849	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT637848	hsa-miR-4307	HITS-CLIP	23824327
MIRT637847	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT637846	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT637845	hsa-miR-1260a	HITS-CLIP	23824327
MIRT637844	hsa-miR-1260b	HITS-CLIP	23824327
MIRT637843	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT637842	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637849	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT637848	hsa-miR-4307	HITS-CLIP	23824327
MIRT637847	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT637846	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT637845	hsa-miR-1260a	HITS-CLIP	23824327
MIRT637844	hsa-miR-1260b	HITS-CLIP	23824327
MIRT637843	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT637842	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT531736	hsa-miR-1264	PAR-CLIP	22012620
MIRT531735	hsa-miR-4789-3p	PAR-CLIP	22012620
MIRT531734	hsa-miR-4643	PAR-CLIP	22012620
MIRT531733	hsa-miR-4778-3p	PAR-CLIP	22012620
MIRT531732	hsa-miR-6740-3p	PAR-CLIP	22012620
MIRT531731	hsa-miR-466	PAR-CLIP	22012620
MIRT531729	hsa-miR-5691	PAR-CLIP	22012620
MIRT531730	hsa-miR-6805-3p	PAR-CLIP	22012620
MIRT637849	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT637848	hsa-miR-4307	HITS-CLIP	23824327
MIRT637847	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT637846	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT637845	hsa-miR-1260a	HITS-CLIP	23824327
MIRT637844	hsa-miR-1260b	HITS-CLIP	23824327
MIRT637843	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT637842	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT637849	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT637848	hsa-miR-4307	HITS-CLIP	23824327
MIRT637847	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT637846	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT637845	hsa-miR-1260a	HITS-CLIP	23824327
MIRT637844	hsa-miR-1260b	HITS-CLIP	23824327
MIRT637843	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT637842	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT531736	hsa-miR-1264	PAR-CLIP	22012620
MIRT531735	hsa-miR-4789-3p	PAR-CLIP	22012620
MIRT531734	hsa-miR-4643	PAR-CLIP	22012620
MIRT531733	hsa-miR-4778-3p	PAR-CLIP	22012620
MIRT531732	hsa-miR-6740-3p	PAR-CLIP	22012620
MIRT531731	hsa-miR-466	PAR-CLIP	22012620
MIRT531729	hsa-miR-5691	PAR-CLIP	22012620
MIRT531730	hsa-miR-6805-3p	PAR-CLIP	22012620

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005351	Function	Carbohydrate:proton symporter activity	NAS	10860667
GO:0005353	Function	Fructose transmembrane transporter activity	IDA	28083649
GO:0005353	Function	Fructose transmembrane transporter activity	IDA	18842065
GO:0005515	Function	Protein binding	IPI	31695625
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	28083649
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0008645	Process	Hexose transmembrane transport	TAS
GO:0015143	Function	Urate transmembrane transporter activity	IDA	18327257, 18842065, 22647630, 28083649, 36749388
GO:0015143	Function	Urate transmembrane transporter activity	IEA
GO:0015747	Process	Urate transport	IDA	18842065, 22647630, 28083649
GO:0015747	Process	Urate transport	IEA
GO:0015755	Process	Fructose transmembrane transport	IDA	28083649
GO:0015755	Process	Fructose transmembrane transport	IDA	18842065
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10860667
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0022857	Function	Transmembrane transporter activity	TAS
GO:0046323	Process	D-glucose import	IBA
GO:0046415	Process	Urate metabolic process	IMP	18834626, 19503597, 20053405
GO:0055056	Function	D-glucose transmembrane transporter activity	IBA
GO:0055056	Function	D-glucose transmembrane transporter activity	IDA	28083649
GO:0055056	Function	D-glucose transmembrane transporter activity	IDA	18842065
GO:0055056	Function	D-glucose transmembrane transporter activity	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070837	Process	Dehydroascorbic acid transport	IBA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1904659	Process	D-glucose transmembrane transport	IDA	28083649
GO:1904659	Process	D-glucose transmembrane transport	IDA	18842065
GO:1904659	Process	D-glucose transmembrane transport	IEA
GO:1904659	Process	D-glucose transmembrane transport	NAS	10860667

MIM	HGNC	e!Ensembl
606142	13446	ENSG00000109667

Q9NRM0

Protein name

Solute carrier family 2, facilitated glucose transporter member 9 (Glucose transporter type 9) (GLUT-9) (Urate transporter)

Protein function

High-capacity urate transporter, which may play a role in the urate reabsorption by proximal tubules (PubMed:18327257, PubMed:18701466, PubMed:22647630, PubMed:28083649, PubMed:36749388). May have a residual high-affinity, low-capacity glucose a

PDB

8Y65 , 8Y66

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00083	Sugar_tr	59 → 514	Sugar (and other) transporter	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: 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. Detected in ki

Sequence

MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRKDWSCSLLVAS
LAGAFGSSFLYGYNLSVVNAPTPYIKAFYNESWERRHGRPIDPDTLTLLWSVTVSIFAIG
GLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQAGAFEMLIVGRFIMGIDGGV
ALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVV
PAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTFLGKADVSQEVEEVLAESRVQRSIR
LVSVLELLRAPYVRWQVVTVIVTMACYQLCGLNAIWFYTNSIFGKAGIPPAKIPYVTLST
GGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLTITLTLQDHAPWVPYLSIVGIL
AIIASFCSGPGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTYC
FLVFATICITGAIYLYFVLPETKNRTYAEISQAFSKRNKAYPPEEKIDSAVTDGKINGRP

Sequence length

540

Interactions

View interactions

	Reactome
			Cellular hexose transport Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)

139

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypouricemia, renal, 2	Pathogenic; Likely pathogenic	rs756988113, rs121908323, rs863225072, rs181509591, rs772429581, rs372201423	RCV001327992 RCV000004861 RCV000201282 RCV000201283 RCV000365096 RCV001030002
SLC2A9-related disorder	Likely pathogenic; Pathogenic	rs863225072, rs1265333590	RCV003417728 RCV003399553

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Dalmatian hypouricemia	Conflicting classifications of pathogenicity	rs776421301	RCV000320054
Hepatocellular carcinoma	Benign	rs3733590	RCV005919996
Ovarian serous cystadenocarcinoma	Likely benign	rs13125646	RCV005928338
Schizophrenia	Uncertain significance	rs1750109377	RCV002463538
Thyroid cancer, nonmedullary, 1	Likely benign	rs13125646	RCV005928339
Uric acid concentration, serum, quantitative trait locus 2	association	rs7442295, rs6449213, rs737267	RCV000004856 RCV000004857 RCV000004858

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	24397858, 36210123, 40429823
Anxiety Disorders	Associate	24204615
Arthritis Gouty	Associate	26552468, 36221101
Asymptomatic Diseases	Associate	36221101
Atherosclerosis	Associate	24026676
Carcinoma Hepatocellular	Inhibit	29523220
Carcinoma Renal Cell	Associate	37065178
Cardiovascular Diseases	Associate	19026395, 25833971, 35470676
Carotid Artery Injuries	Associate	21186168
Chronic Kidney Disease Mineral and Bone Disorder	Associate	24742479
Cleft Palate	Associate	24516586
Coronary Disease	Associate	25634581
Diabetes Gestational	Stimulate	27981520
Diabetes Mellitus	Associate	20926839, 32075680
Diabetes Mellitus	Stimulate	27981520
Diabetes Mellitus Type 2	Associate	21584282, 25617895, 26634513, 27328642
Disease	Associate	28270222
Glycosuria Renal	Associate	25646370
Gout	Associate	18398472, 18759275, 18834626, 19026395, 19877038, 19890391, 21658257, 22393348, 22541845, 24026676, 25646370, 26345926, 26427508, 26552468, 28642574 View all (7 more)
Hypertension	Associate	35023146, 35633389
Hyperuricemia	Associate	24301058, 31207883, 31502429, 32183743, 34716863, 35023146, 35079028
Hypouricemia Renal 2	Associate	24397858, 32375679, 36210123, 37176161
Insulin Resistance	Associate	32375679
Iron Overload	Associate	25646370
Metabolic Syndrome	Associate	20348110
Neoplasms	Inhibit	29523220
Nephrolithiasis	Associate	20162745
Obesity	Associate	18487473, 23272134
Orofacial Cleft 1	Associate	24516586
Osteoarthritis	Associate	23534916
Persistent Infection	Associate	32075680
Pre Eclampsia	Associate	31502429, 32255363
Renal hypouricemia	Associate	19026395, 24397858, 31131560, 31771519, 32375679, 36210123, 37176161, 37761963, 40429823
Renal Insufficiency Chronic	Associate	30181573
Weight Loss	Associate	23272134

SLC2A9 (solute carrier family 2 member 9)