Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	116085
Gene name	Solute carrier family 22 member 12
Gene symbol	SLC22A12
Synonyms (NCBI Gene)	OAT4LRSTUATURAT1hURAT1
Chromosome	11
Chromosome location	11q13.1
Summary	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 proxi

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121907892	G>A,C	Pathogenic	Coding sequence variant, stop gained, intron variant, missense variant
rs121907893	C>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121907894	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs121907895	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs121907896	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs121907897	G>T	Pathogenic	Coding sequence variant, missense variant
rs764889032	AG>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs765990518	A>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT713474	hsa-miR-6890-5p	HITS-CLIP	19536157
MIRT713473	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT713472	hsa-miR-1913	HITS-CLIP	19536157
MIRT713471	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT713469	hsa-miR-5002-3p	HITS-CLIP	19536157
MIRT713470	hsa-miR-5699-5p	HITS-CLIP	19536157
MIRT713468	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT713467	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT713466	hsa-miR-1288-3p	HITS-CLIP	19536157
MIRT713465	hsa-miR-3199	HITS-CLIP	19536157
MIRT713464	hsa-miR-8052	HITS-CLIP	19536157
MIRT713463	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT713461	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT713462	hsa-miR-615-5p	HITS-CLIP	19536157
MIRT713460	hsa-miR-7704	HITS-CLIP	19536157
MIRT713459	hsa-miR-5694	HITS-CLIP	19536157
MIRT713474	hsa-miR-6890-5p	HITS-CLIP	19536157
MIRT713473	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT713472	hsa-miR-1913	HITS-CLIP	19536157
MIRT713471	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT713469	hsa-miR-5002-3p	HITS-CLIP	19536157
MIRT713470	hsa-miR-5699-5p	HITS-CLIP	19536157
MIRT713468	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT713467	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT713466	hsa-miR-1288-3p	HITS-CLIP	19536157
MIRT713465	hsa-miR-3199	HITS-CLIP	19536157
MIRT713464	hsa-miR-8052	HITS-CLIP	19536157
MIRT713463	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT713461	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT713462	hsa-miR-615-5p	HITS-CLIP	19536157
MIRT713460	hsa-miR-7704	HITS-CLIP	19536157
MIRT713459	hsa-miR-5694	HITS-CLIP	19536157
MIRT713474	hsa-miR-6890-5p	HITS-CLIP	19536157
MIRT713473	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT713472	hsa-miR-1913	HITS-CLIP	19536157
MIRT713471	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT713469	hsa-miR-5002-3p	HITS-CLIP	19536157
MIRT713470	hsa-miR-5699-5p	HITS-CLIP	19536157
MIRT713468	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT713467	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT713466	hsa-miR-1288-3p	HITS-CLIP	19536157
MIRT713465	hsa-miR-3199	HITS-CLIP	19536157
MIRT713464	hsa-miR-8052	HITS-CLIP	19536157
MIRT713463	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT713461	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT713462	hsa-miR-615-5p	HITS-CLIP	19536157
MIRT713460	hsa-miR-7704	HITS-CLIP	19536157
MIRT713459	hsa-miR-5694	HITS-CLIP	19536157
MIRT713474	hsa-miR-6890-5p	HITS-CLIP	19536157
MIRT713473	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT713472	hsa-miR-1913	HITS-CLIP	19536157
MIRT713471	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT713469	hsa-miR-5002-3p	HITS-CLIP	19536157
MIRT713470	hsa-miR-5699-5p	HITS-CLIP	19536157
MIRT713468	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT713467	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT713466	hsa-miR-1288-3p	HITS-CLIP	19536157
MIRT713465	hsa-miR-3199	HITS-CLIP	19536157
MIRT713464	hsa-miR-8052	HITS-CLIP	19536157
MIRT713463	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT713461	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT713462	hsa-miR-615-5p	HITS-CLIP	19536157
MIRT713460	hsa-miR-7704	HITS-CLIP	19536157
MIRT713459	hsa-miR-5694	HITS-CLIP	19536157
MIRT1354311	hsa-miR-3127-3p	CLIP-seq
MIRT1354312	hsa-miR-3679-3p	CLIP-seq
MIRT1354313	hsa-miR-4446-5p	CLIP-seq
MIRT1354314	hsa-miR-4722-3p	CLIP-seq
MIRT1354315	hsa-miR-548g	CLIP-seq
MIRT2329438	hsa-miR-1285	CLIP-seq
MIRT2329439	hsa-miR-3187-5p	CLIP-seq
MIRT2329440	hsa-miR-326	CLIP-seq
MIRT2329441	hsa-miR-330-5p	CLIP-seq
MIRT2329442	hsa-miR-3665	CLIP-seq
MIRT2329443	hsa-miR-378g	CLIP-seq
MIRT2329444	hsa-miR-4486	CLIP-seq
MIRT2329445	hsa-miR-4736	CLIP-seq
MIRT2329446	hsa-miR-612	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IDA	14694169, 16775029
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	22194875
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IDA	12024214
GO:0015143	Function	Urate transmembrane transporter activity	IDA	12024214
GO:0015143	Function	Urate transmembrane transporter activity	TAS
GO:0015711	Process	Organic anion transport	IBA
GO:0015747	Process	Urate transport	IDA	12024214, 16775029
GO:0015747	Process	Urate transport	IEA
GO:0015747	Process	Urate transport	IMP	22194875
GO:0016020	Component	Membrane	IDA	12024214
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	12024214
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019725	Process	Cellular homeostasis	NAS	15772301
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030165	Function	PDZ domain binding	IPI	15304510
GO:0031526	Component	Brush border membrane	ISS
GO:0031526	Component	Brush border membrane	NAS	12024214
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0046415	Process	Urate metabolic process	IMP	19503597
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097744	Process	Renal urate salt excretion	IEA

MIM	HGNC	e!Ensembl
607096	17989	ENSG00000197891

Q96S37

Protein name

Solute carrier family 22 member 12 (Organic anion transporter 4-like protein) (Renal-specific transporter) (RST) (Urate anion exchanger 1) (URAT1) (Urate:anion antiporter SLC22A12)

Protein function

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

PDB

8WJG , 8WJQ , 9B1F , 9B1G , 9B1H , 9B1I , 9B1J , 9B1K , 9B1L , 9B1M , 9B1N , 9B1O , 9IRW , 9IRX , 9IRY , 9JDV , 9JDY , 9JDZ , 9JE0 , 9JE1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00083	Sugar_tr	102 → 475	Sugar (and other) transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex. {ECO:0000269|PubMed:12024214, ECO:0000269|PubMed:15304510}.

Sequence

MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQ
ASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGW
VYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAAACGPASDRFGRRLVLTWSY
LQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLLMEWTAARARPLVMTLNSLG
FSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWGLQELW
RVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAF
GFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCI
LANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGA
ILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATH
GTLGNSVLKSTQF

Sequence length

553

Interactions

View interactions

	Reactome
			Organic anion transport Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)

149

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dalmatian hypouricemia	Pathogenic; Likely pathogenic	rs2135442758, rs1404199426, rs121907892, rs121907893, rs121907894, rs121907895, rs121907896, rs121907897, rs778022810, rs534253348, rs766798648, rs765990518, rs770757659	RCV001533016 RCV002498058 RCV000003689 RCV000003690 RCV000003691 RCV000003692 RCV000003693 RCV000003694 RCV005050739 RCV005050601 RCV003226603 RCV000348762 RCV000779071
Familial renal hypouricemia	Pathogenic; Likely pathogenic	rs121907896, rs765990518	RCV000826151 RCV003993926
SLC22A12-related disorder	Pathogenic; Likely pathogenic	rs121907892, rs765990518	RCV003944797 RCV003409469

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	21935282
Cardiovascular Diseases	Associate	19590895
COVID 19	Associate	34127048
Diabetes Mellitus Type 2	Associate	33531564
Glycosuria Renal	Associate	22194875, 29958533, 33821957, 34255816
Gout	Associate	24360580, 26290326, 26821810, 30315176, 30621105, 32847529, 35505381
Gout	Inhibit	33821957
Hypertension	Associate	22688828, 26086348, 34498315
Hyperuricemia	Associate	16385546, 23238572, 26086348, 26821810, 30621105, 32183743, 32375679, 34498315, 34631016, 35505381
Hypouricemia Renal 2	Associate	32375679
Kidney Diseases	Associate	35505381
Liver Diseases Alcoholic	Associate	36328481
Metabolic Syndrome	Associate	22688828
Nephrolithiasis	Associate	22194875
Obesity	Associate	22688828
Pre Eclampsia	Associate	32255363
Renal hypouricemia	Associate	15327384, 16385546, 19026395, 21935282, 24397858, 25739858, 26821810, 29958533, 30097038, 31131560, 31591475, 31771519, 32677916, 36210123, 36418091, 37176161, 37761963 View all (2 more)
Renal hypouricemia	Stimulate	32375679
Renal Insufficiency Chronic	Associate	32847529
Urolithiasis	Associate	36418091
Vascular Diseases	Associate	25739858

SLC22A12 (solute carrier family 22 member 12)