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    SLC22A12 solute carrier family 22 member 12 [ Homo sapiens (human) ]

    Gene ID: 116085, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC22A12provided by HGNC
    Official Full Name
    solute carrier family 22 member 12provided by HGNC
    Primary source
    HGNC:HGNC:17989
    See related
    Ensembl:ENSG00000197891 MIM:607096; AllianceGenome:HGNC:17989
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RST; UAT; OAT4L; URAT1; hURAT1
    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]
    Expression
    Restricted expression toward kidney (RPKM 60.9) See more
    Orthologs
    all
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    Genomic context

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    See SLC22A12 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64591220..64602344)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64583895..64595327)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64358692..64369816)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902690 Neighboring gene MPRA-validated peak1297 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64307456-64307994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64325867-64326380 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64327331-64327499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64332286-64333255 Neighboring gene solute carrier family 22 member 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64338776-64339380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64350049-64350932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64350933-64351815 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64352037-64352222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64372269-64373070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387298-64387914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387915-64388530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4905 Neighboring gene neurexin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64404690-64405258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414407-64414908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414909-64415408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64415526-64416494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64419195-64419694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64421037-64421537 Neighboring gene NRXN2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64424149-64424650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64424651-64425150 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64426961-64428160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64455312-64456232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64480596-64481379 Neighboring gene Sharpr-MPRA regulatory region 4107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64492769-64493607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64506559-64507108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3486 Neighboring gene RAS guanyl releasing protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Absence of SLC22A12/URAT1 gene mutations in patients with primary gout. Torres RJ, et al. J Rheumatol, 2012 Sep. PMID 22942308
    2. Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population. Hamajima N, et al. BMC Med Genet, 2011 Mar 2. PMID 21366895, Free PMC Article
    3. G109T polymorphism of SLC22A12 gene is associated with serum uric acid level, but not with metabolic syndrome. Jang WC, et al. Rheumatol Int, 2012 Aug. PMID 21544634
    4. SLC22A12 W258X frequency according to serum uric acid level among Japanese health checkup examinees. Kuriki S, et al. Nagoya J Med Sci, 2011 Feb. PMID 21614936, Free PMC Article
    5. Two cases of nephrotic syndrome (NS)-induced acute kidney injury (AKI) associated with renal hypouricemia. Takeda Y, et al. Clin Nephrol, 2011 Jul. PMID 21722610

    See all (116) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis for the transport and substrate selection of human urate transporter 1.
      Title: Structural basis for the transport and substrate selection of human urate transporter 1.
    2. New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions.
      Title: New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions.
    3. Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).
      Title: Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).
    4. Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.
      Title: Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.
    5. The impact of an URAT1 polymorphism on the losartan treatment of hypertension and hyperuricemia.
      Title: The impact of an URAT1 polymorphism on the losartan treatment of hypertension and hyperuricemia.
    6. Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.
      Title: Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.
    7. Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults.
      Title: Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults.
    8. Renal Reabsorptive Transport of Uric Acid Precursor Xanthine by URAT1 and GLUT9.
      Title: Renal Reabsorptive Transport of Uric Acid Precursor Xanthine by URAT1 and GLUT9.
    9. 27-Hydroxycholesterol regulates human SLC22A12 gene expression through estrogen receptor action.
      Title: 27-Hydroxycholesterol regulates human SLC22A12 gene expression through estrogen receptor action.
    10. Refining genome-wide associated loci for serum uric acid in individuals with African ancestry.
      Title: Refining genome-wide associated loci for serum uric acid in individuals with African ancestry.
    Submit: New GeneRIF Correction See all GeneRIFs (88)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dalmatian hypouricemia
    MedGen: C0473219 OMIM: 220150 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog
    Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables urate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables urate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular homeostasis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in organic anion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in renal urate salt excretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in urate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in urate transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in urate transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in brush border membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in brush border membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 22 member 12
    Names
    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 anion transporter 1
    urate transporter 1
    urate:anion antiporter SLC22A12

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008110.1 RefSeqGene

      Range
      5411..16535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001276326.2 → NP_001263255.1  solute carrier family 22 member 12 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AB050269, AK315061, AP001092, BC053348, DA631511
      Consensus CDS
      CCDS60835.1
      UniProtKB/TrEMBL
      B3KV05
      Related
      ENSP00000336836.7, ENST00000336464.7
      Conserved Domains (1) summary
      cd17374
      Location:109 → 482
      MFS_OAT; Organic anion transporters of the Major Facilitator Superfamily of transporters

    2. NM_001276327.2 → NP_001263256.1  solute carrier family 22 member 12 isoform d

      See identical proteins and their annotated locations for NP_001263256.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AB050269, AP001092, AY358183, BC053348, DA631511
      Consensus CDS
      CCDS60836.1
      UniProtKB/TrEMBL
      B3KV05
      Related
      ENSP00000366795.1, ENST00000377572.5

    3. NM_144585.4 → NP_653186.2  solute carrier family 22 member 12 isoform a

      See identical proteins and their annotated locations for NP_653186.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB050269, AP001092, BC053348, DA631511
      Consensus CDS
      CCDS8075.1
      UniProtKB/Swiss-Prot
      B7WPG1, G3XAN7, Q19PF7, Q19PF8, Q19PF9, Q19PG0, Q6UXW3, Q96DT2, Q96S37
      UniProtKB/TrEMBL
      B3KV05
      Related
      ENSP00000366797.1, ENST00000377574.6
      Conserved Domains (1) summary
      cl26863
      Location:11 → 526
      Sugar_tr; Sugar (and other) transporter

    4. NM_153378.3 → NP_700357.1  solute carrier family 22 member 12 isoform b

      See identical proteins and their annotated locations for NP_700357.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains alternate 5' exon structure, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AB050269, AK055737, AP001092, BC053348
      UniProtKB/TrEMBL
      B3KP53
      Related
      ENSP00000438437.1, ENST00000473690.5
      Conserved Domains (1) summary
      cd06174
      Location:125 → 295
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64591220..64602344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718430.5 → XP_006718493.1  solute carrier family 22 member 12 isoform X1

      See identical proteins and their annotated locations for XP_006718493.1

      UniProtKB/TrEMBL
      B3KV05
      Conserved Domains (2) summary
      cd06174
      Location:122 → 541
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00898
      Location:11 → 551
      2A0119; cation transport protein

    2. XM_006718431.5 → XP_006718494.1  solute carrier family 22 member 12 isoform X2

      UniProtKB/TrEMBL
      B3KV05
      Conserved Domains (2) summary
      cd06174
      Location:87 → 506
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00898
      Location:1 → 516
      2A0119; cation transport protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64583895..64595327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367605.1 → XP_054223580.1  solute carrier family 22 member 12 isoform X2

    2. XM_054367604.1 → XP_054223579.1  solute carrier family 22 member 12 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96S37.1 GenPept UniProtKB/Swiss-Prot:Q96S37

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