GENE REFERENCE / HGNC:17989

SLC22A12

solute carrier family 22 member 12

protein-coding gene11q13.1Gene information

What does this gene do?

The SLC22A12 gene provides instructions for making a protein called urate transporter 1 (URAT1). This protein is found in the kidneys, specifically in structures called proximal tubules. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete unneeded substances into the urine. Within the proximal tubules, the URAT1 protein helps transport molecules by exchanging negatively charged atoms (anions) for a substance called urate. Urate is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. The URAT1 protein helps reabsorb urate into the bloodstream or release it into the urine, depending on the body's needs. Most urate that is filtered through the kidneys is reabsorbed into the bloodstream; about 10 percent is released into urine.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-02. Source review: 2015-01.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 355
Submissions for variants in or overlapping this gene: 567
Submissions explicitly reporting this gene: 545
Alleles reported pathogenic / likely pathogenic: 26
VariationIDs with uncertain significance: 178
VariationIDs with conflicting classifications: 23

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about SLC22A12?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 26 alleles in SLC22A12 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in SLC22A12.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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