SLC22A12 Chromosome 11
Solute carrier family 22 member 12
Upload your DNA to see your personal genotypes for variants in SLC22A12.
What This Gene Does
The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
Solute carrier family 22
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000197891
Associated Conditions (4)
Dalmatian hypouricemia
SLC22A12-related disorder
Inborn genetic diseases
Familial renal hypouricemia
Key Variants
RS1047976958
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, SLC22A12-related disorder, Dalmatian hypouricemia
Health Risk
RS138485972
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, Dalmatian hypouricemia
Health Risk
RS140671173
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, Dalmatian hypouricemia
Health Risk
RS142344676
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, Dalmatian hypouricemia
Health Risk
RS143053863
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, Dalmatian hypouricemia
Health Risk
RS147647315
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, Dalmatian hypouricemia
Health Risk
RS200050310
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, Dalmatian hypouricemia
Health Risk
RS200104135
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, SLC22A12-related disorder, Dalmatian hypouricemia
Health Risk
RS200340948
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, Dalmatian hypouricemia
Health Risk
RS201136391
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, Dalmatian hypouricemia
Health Risk
RS371053482
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, Dalmatian hypouricemia
Health Risk
RS543512307
Conflicting classifications of pathogenicity
Dalmatian hypouricemia, SLC22A12-related disorder, Dalmatian hypouricemia
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1047976958 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, SLC22A12-related disorder, Dalmatian hypouricemia |
| RS138485972 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS140671173 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS142344676 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS143053863 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS147647315 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS200050310 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS200104135 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, SLC22A12-related disorder, Dalmatian hypouricemia |
| RS200340948 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS201136391 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS371053482 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS543512307 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, SLC22A12-related disorder, Dalmatian hypouricemia |
| RS565889764 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS572402167 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS573968273 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS61743169 | Health Risk | Conflicting classifications of pathogenicity | SLC22A12-related disorder, SLC22A12-related disorder |
| RS749437340 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS757020167 | Health Risk | Conflicting classifications of pathogenicity | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS763298510 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Dalmatian hypouricemia, Inborn genetic diseases |
| RS1404199426 | Health Risk | Likely pathogenic | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS764889032 | Health Risk | Likely pathogenic | — |
| RS770757659 | Health Risk | Likely pathogenic | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS773677616 | Health Risk | Likely pathogenic | — |
| RS980726718 | Health Risk | Likely pathogenic | — |
| RS121907892 | Health Risk | Pathogenic | Dalmatian hypouricemia, SLC22A12-related disorder, Dalmatian hypouricemia |
| RS121907894 | Health Risk | Pathogenic | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS121907895 | Health Risk | Pathogenic | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS121907896 | Health Risk | Pathogenic | Dalmatian hypouricemia, Familial renal hypouricemia, Dalmatian hypouricemia |
| RS121907897 | Health Risk | Pathogenic | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS2135442758 | Health Risk | Pathogenic | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS2135445164 | Health Risk | Pathogenic | — |
| RS766798648 | Health Risk | Pathogenic | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS121907893 | Health Risk | Pathogenic/Likely pathogenic | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS534253348 | Health Risk | Pathogenic/Likely pathogenic | Dalmatian hypouricemia, Dalmatian hypouricemia |
| RS765990518 | Health Risk | Pathogenic/Likely pathogenic | Dalmatian hypouricemia, SLC22A12-related disorder, Familial renal hypouricemia |
| RS778022810 | Health Risk | Pathogenic/Likely pathogenic | Dalmatian hypouricemia, Dalmatian hypouricemia |