Entity Details

Primary name SLC22A12
Entity type gene
Source Source Link

Details

PrimaryID116085
RefseqGeneNG_008110
SymbolSLC22A12
Namesolute carrier family 22 member 12
Chromosome11
Location11q13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-10-04
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsS22AC_HUMAN

GO terms

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GOName
GO:0005886 plasma membrane
GO:0015143 urate transmembrane transporter activity
GO:0015711 organic anion transport
GO:0015747 urate transport
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0019725 cellular homeostasis
GO:0030165 PDZ domain binding
GO:0031526 brush border membrane
GO:0042493 response to drug
GO:0046415 urate metabolic process
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
220150 OMIMHypouricemia renal 1 (RHUC1)A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
SLC22A12PDZK1BioGRID, HPRD14531806 details
SLC22A12NDUFA13BioGRID, MINT24344204 details
SLC22A12SMAP2BioGRID, IntAct28514442 details
SLC22A12ATP5F1BBioGRID, IntAct28514442 details