SLC22A12

Chr 11q13.1

solute carrier family 22 member 12

Aliases:: OAT4L, RST, URAT1, hURAT1, UAT
MANE:: ENST00000377574.6

OMIM: 607096 ↗NCBI: 116085 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC22A12 · Q96S37

v62025-08-01

Predicted Aligned Error matrix for SLC22A12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.6/ 100

Confident

553 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)37%
Low(50–70)6%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomal
Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

gout
0.79
hyperuricemia
0.69
hereditary renal hypouricemia
0.66
hypouricemia, renal
0.47
obesity disorder
0.40
acquired metabolic disease
0.37
overnutrition
0.31
Hypertension
0.27
obstructive sleep apnea syndrome
0.26
placenta praevia
0.22

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Solute carrier family 22 member 12

Electroneutral antiporter that translocates urate across the apical membrane of proximal tubular cells in exchange for monovalent organic or inorganic anions (PubMed:12024214, PubMed:22194875, PubMed:35144162, PubMed:35462902). Involved in renal reabsorption of urate and helps maintaining blood levels of uric acid (PubMed:12024214, PubMed:22194875). Mediates urate uptake by an exchange with organic anions such as (S)-lactate and nicotinate, and inorganic anion Cl(-) (PubMed:12024214). Other inorganic anions such as Br(-), I(-) and NO3(-) may also act as counteranions that exchange for urate (PubMed:12024214). Also mediates orotate tubular uptake coupled with nicotinate efflux and to a lesser extent with lactate efflux, therefore displaying a potential role in orotate renal reabsorption (PubMed:21350910). Orotate transport is Cl(-)-dependent (PubMed:21350910)

Curated MONDO disease pages that list SLC22A12 among their top associated genes.

goutRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with SLC22A12