SLC2A9 Chromosome 4
Solute carrier family 2 member 9
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What This Gene Does
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 cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 2
Locus Type
gene with protein product
Location
4p16.1
Ensembl
ENSG00000109667
Associated Conditions (8)
Uric acid concentration
serum
quantitative trait locus 2
Hypouricemia
renal
2
SLC2A9-related disorder
Inborn genetic diseases
Key Variants
RS6449213
association
Uric acid concentration, serum, quantitative trait locus 2
Health Risk
RS737267
association
Uric acid concentration, serum, quantitative trait locus 2
Health Risk
RS7442295
association
Uric acid concentration, serum, quantitative trait locus 2
Health Risk
RS121908321
Conflicting classifications of pathogenicity
Hypouricemia, renal, 2
Health Risk
RS121908322
Conflicting classifications of pathogenicity
Hypouricemia, renal, 2
Health Risk
RS149454410
Conflicting classifications of pathogenicity
Hypouricemia, renal, 2
Health Risk
RS561633150
Conflicting classifications of pathogenicity
SLC2A9-related disorder, Hypouricemia, renal
Health Risk
RS74651202
Conflicting classifications of pathogenicity
Hypouricemia, renal, 2
Health Risk
RS747410628
Conflicting classifications of pathogenicity
Hypouricemia, renal, 2
Health Risk
RS771866622
Conflicting classifications of pathogenicity
Hypouricemia, renal, 2
Health Risk
RS1265333590
Likely pathogenic
SLC2A9-related disorder, SLC2A9-related disorder
Health Risk
RS181509591
Likely pathogenic
Hypouricemia, renal, 2
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS6449213 | Health Risk | association | Uric acid concentration, serum, quantitative trait locus 2 |
| RS737267 | Health Risk | association | Uric acid concentration, serum, quantitative trait locus 2 |
| RS7442295 | Health Risk | association | Uric acid concentration, serum, quantitative trait locus 2 |
| RS121908321 | Health Risk | Conflicting classifications of pathogenicity | Hypouricemia, renal, 2 |
| RS121908322 | Health Risk | Conflicting classifications of pathogenicity | Hypouricemia, renal, 2 |
| RS149454410 | Health Risk | Conflicting classifications of pathogenicity | Hypouricemia, renal, 2 |
| RS561633150 | Health Risk | Conflicting classifications of pathogenicity | SLC2A9-related disorder, Hypouricemia, renal |
| RS74651202 | Health Risk | Conflicting classifications of pathogenicity | Hypouricemia, renal, 2 |
| RS747410628 | Health Risk | Conflicting classifications of pathogenicity | Hypouricemia, renal, 2 |
| RS771866622 | Health Risk | Conflicting classifications of pathogenicity | Hypouricemia, renal, 2 |
| RS1265333590 | Health Risk | Likely pathogenic | SLC2A9-related disorder, SLC2A9-related disorder |
| RS181509591 | Health Risk | Likely pathogenic | Hypouricemia, renal, 2 |
| RS2546444914 | Health Risk | Likely pathogenic | — |
| RS372201423 | Health Risk | Likely pathogenic | Hypouricemia, renal, 2 |
| RS121908323 | Health Risk | Pathogenic | Hypouricemia, renal, 2 |
| RS2546254135 | Health Risk | Pathogenic | — |
| RS2547139335 | Health Risk | Pathogenic | — |
| RS756988113 | Health Risk | Pathogenic | Hypouricemia, renal, 2 |
| RS772429581 | Health Risk | Pathogenic/Likely pathogenic | Hypouricemia, renal, 2 |
| RS863225072 | Health Risk | Pathogenic/Likely pathogenic | Hypouricemia, renal, 2 |