SLC2A9 (solute carrier family 2 member 9)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56606
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 2 member 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC2A9
Synonyms (NCBI Gene) Gene synonyms aliases
GLUT9, GLUTX, UAQTL2, URATv1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606142 13446 ENSG00000109667
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Sequence length 540
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Cellular hexose transport
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Renal hypouricemia hypouricemia, renal, 2 rs372201423, rs121908323, rs863225072, rs181509591, rs772429581 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Hereditary Renal Hypouricemia hereditary renal hypouricemia N/A N/A GenCC
Hyperuricemia Hyperuricemia N/A N/A GWAS
Kidney Disease Chronic kidney disease N/A N/A GWAS
Show/Hide Text Mining Associations (35)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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