SLC2A9 (solute carrier family 2 member 9)

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
SNPs SNP information provided by dbSNP.
5
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.
48
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606142 13446 ENSG00000109667
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypouricemia, renal, 2 Pathogenic; Likely pathogenic rs756988113, rs121908323, rs863225072, rs181509591, rs772429581, rs372201423 RCV001327992
RCV000004861
RCV000201282
RCV000201283
RCV000365096
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC2A9-related disorder Likely pathogenic; Pathogenic rs863225072, rs1265333590 RCV003417728
RCV003399553
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (14)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, GOUTY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (86)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Disorders Anxiety Disorder BEFREE 24204615
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety disorder Pubtator 24204615 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 25301104
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Gouty Gouty arthritis Pubtator 26552468, 36221101 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASDB_DG 17997608, 18179892, 18327256, 18327257, 18834626, 20884846, 21768215, 23263486
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis, Gouty Gouty arthritis BEFREE 19723617, 26552468
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis, Gouty Gouty arthritis GWASCAT_DG 20884846, 21983786, 23263486, 25646370, 27899376, 30181573, 31289104
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis Pubtator 24026676 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25301104
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 26910779
★★★★★
★☆☆☆☆
Found in Text Mining only