Gene
SLC22A12
solute carrier family 22 member 12
- HGNC 17989↗(opens in a new tab)
- Ensembl gene ENSG00000197891↗(opens in a new tab)
- NCBI Gene 116085↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q13.1
- Coordinates
- Chromosome 11: 64,591,220–64,602,344 (GRCh38)
- Exons
- 10 exons across 11.1 kb
- Protein
- 553 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- OAT4L, RST, URAT1, hURAT1, UAT
- MANE Select transcript
- ENST00000377574.6NM_144585.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Renal Hypouricemia
- Hereditary Renal HypouricemiaAutosomal recessive
A recessive disorder of uric acid reabsorption caused by variants in SLC22A12 or SLC2A9, associated with exercise-induced acute kidney injury and uric acid stones.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing supports staying well hydrated and avoiding extreme anaerobic exercise to reduce the risk of kidney injury.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SLC22A12 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.8 kb of the gene's 11.1 kb; 1,662 of those bases code for the protein.
How a genome test reads SLC22A12
13
positions in SLC22A12 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 11.1 kb of SLC22A12, introns included, not only the 2.8 kb of exons.
Genes linked to the same conditions
Traits linked to SLC22A12
The Human Phenotype Ontology lists these as features of the rare conditions SLC22A12 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SLC22A12 gene: solute carrier family 22 member 12. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc22a12
Dante Labs. SLC22A12 gene: solute carrier family 22 member 12 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc22a12
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