SLC22A12 - solute carrier family 22 member 12 Gene

Also Known as RST; OAT4L; URAT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 116085

About SLC22A12

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,591,220-64,602,344 (from NCBI)

This gene has 5 transcripts (splice variants), 475 orthologues, 22 paralogues and is associated with 2 phenotypes. Restricted expression toward kidney (RPKM 60.9).

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 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]

SLC22A12 Products (6)

mRNA	Protein	Name
XM_006718431.5	XP_006718494.1	solute carrier family 22 member 12 isoform X2
NM_144585.4	NP_653186.2	solute carrier family 22 member 12 isoform a
NM_001276326.2	NP_001263255.1	solute carrier family 22 member 12 isoform c
NM_153378.3	NP_700357.1	solute carrier family 22 member 12 isoform b
NM_001276327.2	NP_001263256.1	solute carrier family 22 member 12 isoform d
XM_006718430.5	XP_006718493.1	solute carrier family 22 member 12 isoform X1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	15304510	GOA
enables urate transmembrane transporter activity	IDA IDA: Inferred from direct assay	12024214	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in response to xenobiotic stimulus	IDA IDA: Inferred from direct assay	12024214	GOA
involved in urate metabolic process	IMP IMP: Inferred from mutant phenotype	19503597	GOA
involved in urate transport	IDA IDA: Inferred from direct assay	12024214	GOA
involved in urate transport	IMP IMP: Inferred from mutant phenotype	22194875	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	12024214	GOA
located in membrane	IDA IDA: Inferred from direct assay	12024214	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	14694169	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	22194875	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC22A12 Protein Structure

MFS_1

0
100
200
300
400
500
553 a.a.

Protein Preferred Names	Protein Names
solute carrier family 22 member 12	organic anion transporter 4-like protein renal-specific transporter solute carrier family 22 (organic anion/cation transporter), member 12 solute carrier family 22 (organic anion/urate transporter), member 12 urate anion exchanger 1 urate transporter 1

SLC22A12 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84742	SLC22A12 Antibody (YA4439)	WB, IHC-P, FC, ELISA	Human, Mouse
HY-P84742A	SLC22A12 Antibody (YA4439)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse

Related Diseases

Diseases	Alias
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Kidney Cortex Disease
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Hypouricemia, Renal, 1	Dalmatian Hypouricemia Renal Hypouricemia Hypouricemia, Renal RHUC1 Familial Renal Hypouricemia Hereditary Renal Hypouricemia Familial Renal Hypouricaemia Rhuc Hypouricemia Renal 1 Hypouricemia, Renal, Type 1
Purine-Pyrimidine Metabolic Disorder	Inborn Errors Of Purine-Pyrimidine Metabolism Disorder Of Purine Or Pyrimidine Metabolism
Kidney Cortex Necrosis	Renal Cortical Necrosis
Gout	Gouty Arthritis Articular Gout Gouty Arthropathy Arthritis, Gouty Arthritis Gouty Idiopathic Gout Idiopathic Gout, Unspecified Site Gouty Bursitis Uratic Arthritis Gout Nos Gouty Gouty Diathesis
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Mckd2 Familial Juvenile Hyperuricemic Nephropathy Familial Juvenile Hyperuricemic Nephropathy Type 1 Fjhn Medullary Cystic Kidney Disease 2 Uromodulin-Associated Kidney Disease Medullary Cystic Kidney Disease Type 2 ADTKD1 Hnfj1 Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria Adtkd-Umod Familial Juvenile Hyperuricemic Nephropathy 1 Umod-Related Adtkd Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease Hyperuricemic Nephropathy, Familial Juvenile, 1 Gouty Nephropathy, Familial Juvenile Medullary Cystic Kidney Disease 2, Autosomal Dominant Admckd2 Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations Adtkd Due To Umod Mutations Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Autosomal Dominant Medullary Cystic Kidney Disease Type 2 Umod-Associated Kidney Disease Uromodulin Kidney Disease Familial Gout-Kidney Disease Familial Gouty Nephropathy Umak Umod-Related Kidney Disease Uromodulin Storage Disease Fjhn1 Gouty Nephropathy Familial Juvenile Nephropathy Familial With Gout Hyperuricemic Nephropathy, Familial Juvenile 1 Hyperuricemic Nephropathy, Familial Juvenile Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1 Kidney Disease, Cystic, Medullary, Type 2 Medullary Cystic Kidney Disease Type Ii Familial Juvenile Gout
Nephrolithiasis, Uric Acid	Nephrolithiasis, Uric Acid, Susceptibility To Uric Acid Urolithiasis Uric Acid Nephrolithiasis UAN Acute Urate Nephropathy Urolithiasis, Uric Acid Urolithiasis, Uric Acid, Susceptibility To Uric Acid Renal Calculus
Xanthinuria	Xanthine Dehydrogenase Deficiency Xanthine Oxidase Deficiency Hereditary Xanthinuria Xanthic Urolithiasis Xanthine Stone Disease Xanthinuria, Type I Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase Xdh Deficiency Classic Xanthinuria Xanthinuria, Type Ii Classical Xanthinuria Xanthine Calculus
Hyperuricemia, Hprt-Related	Hprt-Related Gout Kelley-Seegmiller Syndrome Hprt Deficiency, Partial HRH Gout, Hprt-Related Hprt1 Deficiency, Partial Hrpt-Related Hyperuricemia Hprt Deficiency, Grade I Hprt Partial Deficiency Hprt-Related Hyperuricemia Hprt1 Partial Deficiency Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial Hyperuricemia, Hrpt-Related
Alzheimer Disease 17	AD17 Alzheimer'S Disease 17 Alzheimer Disease 17, Late-Onset Alzheimer Disease 17, Late Onset
Acute Kidney Failure	Acute Renal Failure Renal Failure Acute Acute Kidney Injury Kidney Failure, Acute Pre-Renal Acute Kidney Injury Nontraumatic Acute Kidney Injury Aki - [Acute Kidney Injury] Arf - [Acute Kidney Failure] Acute Kidney Disease Acute Kidney Impairment Acute Ischaemic Renal Failure Acute Hypoxic Kidney Failure Acute Kidney Shutdown Acute Renal Oedema Acute Renal Impairment Acute Kidney Collapse Acute Necrotising Kidney Acute Renal Suppression
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Lesch-Nyhan Syndrome	Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency LNS Hprt Deficiency Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency X-Linked Hyperuricemia Choreoathetosis Self-Mutilation Syndrome Hprt1 Deficiency Hprt Deficiency, Complete Deficiency Of Imp Pyrophosphorylase Hgprt Deficiency Lesch-Nyhan Disease Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hg-Prt Deficiency Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency Lesch - Nyhan Syndrome Hprt1 Disorders Lesch Nyhan Syndrome Complete Hprt Deficiency Complete Lesch Nyhan Disease Complete Hprt Deficiency Deficiency Of Guanine Phosphoribosyltransferase Deficiency Of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiency Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Lnd Primary Hyperuricemia Syndrome Total Hprt Deficiency Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency X-Linked Primary Hyperuricemia X-Linked Uric Aciduria Enzyme Defect Hprt Complete Deficiency Hprt Deficiency Grade Iv Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Lower Urinary Tract Calculus	Calculus Of Lower Urinary Tract
Hyperuricemia	Blood Urate Raized Uricacidemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-173231	hURAT1 inhibitor 2	Inhibitor	/	Unkown
HY-RS13063	SLC22A12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13064	Slc22a12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13065	Slc22a12 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC22A12	RGD	RGD:621628
Mus musculus	SLC22A12	MGD	MGI:1195269
Bos taurus	SLC22A12	VGNC	VGNC:56280
Macaca mulatta	SLC22A12	VGNC	VGNC:77501
Felis catus	SLC22A12	VGNC	VGNC:65239
Canis familiaris	SLC22A12	VGNC	VGNC:46273
Others	SLC22A12	NCBI