SLC22A12 (solute carrier family 22 member 12)

Gene

• Entrez ID: 116085
• Gene name: Solute carrier family 22 member 12
• Gene symbol: SLC22A12
• Synonyms (NCBI Gene): OAT4L, RST, UAT, URAT1, hURAT1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 607096
• HGNC: 17989
• e!Ensembl: ENSG00000197891

Protein

• UniProt ID: 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

Pathways

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial renal hypouricemia	Pathogenic; Likely pathogenic	rs121907896, rs765990518	RCV000826151 RCV003993926	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC22A12-related disorder	Pathogenic; Likely pathogenic	rs121907892, rs765990518	RCV003944797 RCV003409469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	14655203		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	31526826		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	20884846, 21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	26290326		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	19590895	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22132964		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28575117		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29035321		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29035321		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33531564	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25617895		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	22688828		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	22194875, 29958533, 33821957, 34255816	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	20884846, 21768215, 23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	Pubtator	24360580, 26290326, 26821810, 30315176, 30621105, 32847529, 35505381	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	Pubtator	33821957	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	25047474		★☆☆☆☆ Found in Text Mining only
Hereditary renal hypouricemia	Hereditary Renal Hypouricemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22688828, 26086348, 34498315	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22688828		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	15327384, 16920156, 17278928, 18349750, 19833602, 23238572, 25268603, 26086348, 26603249, 26821810, 27633583, 27951420, 28258276, 28386072, 28499081, 28623927, 29352852, 29379442, 29490297, 29519319, 29719791, 29868853, 29990831, 30015934, 30388753, 30486413, 30579795, 30826184, 30832523, 31131560, 31478104, 31593642, 31754883, 31792640, 31823130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	Pubtator	16385546, 23238572, 26086348, 26821810, 30621105, 32183743, 32375679, 34498315, 34631016, 35505381	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	GWASCAT_DG	29124443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	29126251		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	29035321		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16724660		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	21810765		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	35505381	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	14655203, 15772829, 17362586, 19189137, 23043931		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	14655203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	29879316		★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	36328481	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29309257		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	22688828	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21544634, 22688828, 29393121		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	21810765		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	22194875	Associate	★☆☆☆☆ Found in Text Mining only
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	BEFREE	22257548		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	15086896		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22688828		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	22688828	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posterior reversible encephalopathy syndrome	Leukoencephalopathy	BEFREE	21536615, 23525542		★☆☆☆☆ Found in Text Mining only
Renal hypouricemia	Renal Hypouricemia	UNIPROT_DG	12024214, 14694169, 15327384, 15634722, 15912381, 16837472, 26418379		★☆☆☆☆ Found in Text Mining only
Renal hypouricemia	Renal Hypouricemia	CLINVAR_DG	12024214, 14655203, 14694169, 15054642, 15327384, 15634722, 15741204, 15912381, 16703794, 17362586, 18492088, 19019168, 21366895, 22045201, 23525542		★☆☆☆☆ Found in Text Mining only
Renal hypouricemia	Renal Hypouricemia	CTD_human_DG	14655203, 14694169, 22132990		★☆☆☆☆ Found in Text Mining only
Renal hypouricemia	Renal Hypouricemia	BEFREE	14694169, 15054642, 15634722, 15772829, 15912381, 15919000, 16703794, 18492088, 18701466, 19189137, 21148271, 21536615, 23043931, 23386035, 24397858, 24940677, 26033041, 26418379, 26500098, 26821810, 27780716, 29486147, 29958533, 31771519		★☆☆☆☆ Found in Text Mining only
Renal hypouricemia	Renal Hypouricemia	GENOMICS_ENGLAND_DG	15912381, 18492088		★☆☆☆☆ Found in Text Mining only
Renal hypouricemia	Renal Hypouricemia	ORPHANET_DG	21148271, 23386035		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	23043931, 29519319		★☆☆☆☆ Found in Text Mining only
Uric acid renal calculus	Uric Acid Renal Calculus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uric acid urolithiasis	Uric Acid Urolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	17362586		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	Pubtator	36418091	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	25739858	Associate	★☆☆☆☆ Found in Text Mining only