SLC22A12 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
SLC22A12
Official Name
solute carrier family 22 member 12 [Source:HGNC Symbol;Acc:HGNC:17989]
Ensembl ID
ENSG00000197891
Bio databases IDs NCBI: 116085 Ensembl: ENSG00000197891
Aliases solute carrier family 22 member 12
Synonyms AI987855, hURAT1, OAT4L, RST, SLC22AL2, solute carrier family 22 member 12, UAT, URAT1
Species
Human, Homo sapiens
OrthologiesRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC22A12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • benzoate transport
  • Sugar (and other) transporter
  • MFS transporter, sugar porter (SP) family
  • Multidrug resistance protein
  • Major Facilitator Superfamily
  • urate transporter
  • cation transport protein
  • transporter
  • PDZ-domain binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • obesity
  • epilepsy
  • renal hypouricemia type 1
  • gout
  • chronic tophaceous gout
  • non-tophaceous gout
  • intra-abdominal infection
  • renal clear cell adenocarcinoma
  • renal clear cell cancer
  • familial renal hypouricemia
regulated by
  • heavy metal
  • PDZK1
  • fulvestrant
  • 27-hydroxycholesterol
  • HNF1A
  • SLC22A12
  • verinurad
  • lesinurad
  • probenecid
  • ruzinurad
regulates

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cellular membrane
  • apical membrane
  • brush border

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SLC22A12 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cellular response to insulin stimulus
  • cellular homeostasis
  • ion transport
  • transmembrane transport
  • urate transport
  • response to xenobiotic stimulus
  • organic anion transport
  • urate metabolic process

Cellular Component

Where in the cell the gene product is active
  • brush border membrane
  • extracellular vesicular exosome
  • membrane
  • plasma membrane
  • apical plasma membrane

Molecular Function

What the gene product does at the molecular level
  • urate transmembrane transporter activity
  • PDZ domain binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.