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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC22A12
solute carrier family 22 member 12
Chromosome 11 Β· 11q13.1
NCBI Gene: 116085Ensembl: ENSG00000197891.12HGNC: HGNC:17989UniProt: B3KP53
118PubMed Papers
21Diseases
8Drugs
23Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingurate transmembrane transporter activityPDZ domain bindingresponse to xenobiotic stimulusgouthyperuricemiahereditary renal hypouricemiahypouricemia, renal
✦AI Summary

SLC22A12 encodes URAT1 (urate transporter 1), an electroneutral antiporter primarily responsible for uric acid reabsorption in the kidney proximal tubules 1. URAT1 functions by translocating urate across the apical membrane in exchange for monovalent organic anions (such as lactate and nicotinate) or inorganic anions (including chloride, bromide, iodide, and nitrate), thereby maintaining blood uric acid levels 2. Structural studies reveal that urate binds in a phenylalanine-rich pocket and engages gating residues to drive the transport cycle, with pyrazinoate interacting at three distinct sites within the transporter 2. The transporter's activity is regulated by phosphorylation at Thr408, which is stimulated by hyperinsulinemia via AKT signaling and by high salt intake through SGK1, linking metabolic conditions to uric acid homeostasis 3. Loss-of-function mutations in SLC22A12 cause hereditary renal hypouricemia type 1, characterized by excessive uric acid excretion and serum uric acid levels below 2mg/dL 45. The gene shows significant genetic variation affecting hyperuricemia susceptibility, with certain polymorphisms serving as risk or protective factors 6. URAT1 represents a major therapeutic target for gout treatment, with drugs like lesinurad, verinurad, and dotinurad acting as competitive inhibitors 2.

Sources cited
1
URAT1 (SLC22A12) is a key urate transporter regulating serum urate levels
PMID: 33798500
2
URAT1 structure and mechanism of urate transport and drug inhibition
PMID: 39245778
3
URAT1 regulation by hyperinsulinemia and salt intake through phosphorylation
PMID: 40100301
4
SLC22A12 mutations cause hereditary renal hypouricemia type 1
PMID: 30704753
5
Loss-of-function mutations in SLC22A12 cause increased uric acid excretion
PMID: 16678460
6
Genetic variants in SLC22A12 affect hyperuricemia susceptibility
PMID: 35225677
Disease Associationsβ“˜21
goutOpen Targets
0.79Strong
hyperuricemiaOpen Targets
0.69Moderate
hereditary renal hypouricemiaOpen Targets
0.65Moderate
hypouricemia, renalOpen Targets
0.47Moderate
obesityOpen Targets
0.45Moderate
acquired metabolic diseaseOpen Targets
0.37Weak
overnutritionOpen Targets
0.37Weak
obstructive sleep apneaOpen Targets
0.30Weak
hypertensionOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.25Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
hypertrophic cardiomyopathyOpen Targets
0.14Weak
chronic kidney diseaseOpen Targets
0.10Suggestive
joint diseaseOpen Targets
0.09Suggestive
mathematical abilityOpen Targets
0.09Suggestive
nephrotic syndromeOpen Targets
0.08Suggestive
focal segmental glomerulosclerosisOpen Targets
0.08Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.08Suggestive
uridine-cytidineuriaOpen Targets
0.08Suggestive
Hypouricemia renal 1UniProt
Pathogenic Variants23
NM_144585.4(SLC22A12):c.269G>A (p.Arg90His)Pathogenic
Dalmatian hypouricemia|Familial renal hypouricemia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 90
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu)Pathogenic
Dalmatian hypouricemia|SLC22A12-related disorder|not provided|Familial renal hypouricemia
β˜…β˜…β˜†β˜†2026β†’ Residue 382
NM_144585.4(SLC22A12):c.650C>T (p.Thr217Met)Pathogenic
Dalmatian hypouricemia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 217
NM_144585.4(SLC22A12):c.506+1G>APathogenic
Dalmatian hypouricemia|not provided
β˜…β˜…β˜†β˜†2025
NM_144585.4(SLC22A12):c.774G>A (p.Trp258Ter)Pathogenic
Dalmatian hypouricemia|not provided|SLC22A12-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 258
NM_144585.4(SLC22A12):c.1429_1451del (p.Arg477fs)Pathogenic
not provided|Dalmatian hypouricemia
β˜…β˜…β˜†β˜†2024β†’ Residue 477
NM_144585.4(SLC22A12):c.1070G>A (p.Trp357Ter)Pathogenic
not provided|Dalmatian hypouricemia
β˜…β˜…β˜†β˜†2024β†’ Residue 357
NM_144585.4(SLC22A12):c.507-8_511delLikely pathogenic
not provided|Dalmatian hypouricemia
β˜…β˜…β˜†β˜†2021
NM_144585.4(SLC22A12):c.693del (p.Leu232fs)Likely pathogenic
Dalmatian hypouricemia
β˜…β˜†β˜†β˜†2025β†’ Residue 232
NM_144585.4(SLC22A12):c.258_259delinsTT (p.Gln87Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 87
NM_144585.4(SLC22A12):c.536del (p.Ser179fs)Likely pathogenic
Dalmatian hypouricemia
β˜…β˜†β˜†β˜†2024β†’ Residue 179
NM_144585.4(SLC22A12):c.667G>T (p.Glu223Ter)Likely pathogenic
Dalmatian hypouricemia
β˜…β˜†β˜†β˜†2024β†’ Residue 223
NM_144585.4(SLC22A12):c.1216C>T (p.Arg406Cys)Likely pathogenic
Dalmatian hypouricemia
β˜…β˜†β˜†β˜†2024β†’ Residue 406
NM_144585.4(SLC22A12):c.259C>T (p.Gln87Ter)Likely pathogenic
Dalmatian hypouricemia
β˜…β˜†β˜†β˜†2024β†’ Residue 87
NM_144585.4(SLC22A12):c.1430G>A (p.Arg477His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 477
NM_144585.4(SLC22A12):c.743del (p.Thr248fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 248
NM_144585.4(SLC22A12):c.661+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2020
NM_144585.4(SLC22A12):c.103_104del (p.Ser35fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 35
NM_144585.4(SLC22A12):c.1082G>T (p.Gly361Val)Pathogenic
Dalmatian hypouricemia
β˜†β˜†β˜†β˜†2008β†’ Residue 361
NM_144585.4(SLC22A12):c.1253T>G (p.Leu418Arg)Pathogenic
Dalmatian hypouricemia
β˜†β˜†β˜†β˜†2005β†’ Residue 418
View on ClinVar β†—
Drug Targets8
ARHALOFENATEPhase II/III
Solute carrier family 22 member 12 inhibitor
gout
BENZBROMARONEApproved
Solute carrier family 22 member 12 inhibitor
gout
DOTINURADApproved
Solute carrier family 22 member 12 inhibitor
hyperuricemia
LESINURADApproved
Solute carrier family 22 member 12 inhibitor
PRATOSARTANPhase III
Solute carrier family 22 member 8 inhibitor
hypertension
SHR-4640Phase III
Solute carrier family 22 member 12 inhibitor
gout
SULFINPYRAZONEApproved
Solute carrier family 22 member 12 inhibitor
gout
VERINURADPhase II
Solute carrier family 22 member 12 inhibitor
Related Genes
PDZK1Protein interaction93%ABCC4Protein interaction93%CEBPDProtein interaction76%SLC5A8Protein interaction76%SLC5A12Protein interaction74%SLC2A5Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
29%
Brain
11%
Ovary
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SLC22A12PDZK1ABCC4CEBPDSLC5A8SLC5A12SLC2A5
PROTEIN STRUCTURE
Preparing viewer…
PDB9DKC Β· 2.55 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.41LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.12 [0.90–1.41]
RankingsWhere SLC22A12 stands among ~20K protein-coding genes
  • #4,014of 20,598
    Most Researched118 Β· top quartile
  • #412of 1,025
    FDA-Approved Drug Targets4
  • #2,045of 5,498
    Most Pathogenic Variants23
  • #14,582of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedSLC22A12
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Gout.
PMID: 33798500
Lancet Β· 2021
1.00
2
Gene-environment interaction modifies the association between hyperinsulinemia and serum urate levels through SLC22A12.
PMID: 40100301
J Clin Invest Β· 2025
0.90
3
Transport mechanism and structural pharmacology of human urate transporter URAT1.
PMID: 39245778
Cell Res Β· 2024
0.80
4
The SLC22 Transporter Family: A Paradigm for the Impact of Drug Transporters on Metabolic Pathways, Signaling, and Disease.
PMID: 29309257
Annu Rev Pharmacol Toxicol Β· 2018
0.70
5
[Not Available].
PMID: 30704753
Nefrologia (Engl Ed) Β· 2019
0.60