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Aliases for SLC22A12 Gene

Aliases for SLC22A12 Gene

  • Solute Carrier Family 22 Member 12 2 3 5
  • Solute Carrier Family 22 (Organic Anion/Cation Transporter), Member 12 2 3
  • Solute Carrier Family 22 (Organic Anion/Urate Transporter), Member 12 2 3
  • Organic Anion Transporter 4-Like Protein 3 4
  • Renal-Specific Transporter 3 4
  • Urate Anion Exchanger 1 3 4
  • URAT1 3 4
  • RST 3 4
  • Urate Transporter 1 3
  • OAT4L 3
  • OATL4 4

External Ids for SLC22A12 Gene

Previous GeneCards Identifiers for SLC22A12 Gene

  • GC11P066873
  • GC11P066039
  • GC11P064099
  • GC11P064100
  • GC11P064115
  • GC11P064359
  • GC11P060685

Summaries for SLC22A12 Gene

Entrez Gene Summary for SLC22A12 Gene

  • 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]

GeneCards Summary for SLC22A12 Gene

SLC22A12 (Solute Carrier Family 22 Member 12) is a Protein Coding gene. Diseases associated with SLC22A12 include Hypouricemia, Renal and Hyperuricemia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Uricosurics Pathway, Pharmacodynamics. GO annotations related to this gene include PDZ domain binding and urate transmembrane transporter activity. An important paralog of this gene is SLC22A11.

UniProtKB/Swiss-Prot for SLC22A12 Gene

  • Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions.

Gene Wiki entry for SLC22A12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC22A12 Gene

Genomics for SLC22A12 Gene

Regulatory Elements for SLC22A12 Gene

Enhancers for SLC22A12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F064541 0.4 ENCODE 11.6 -48.0 -47981 1.6 SOX5 SAP130 TEAD1 FOXA3 ARID4B CEBPB ZNF384 CEBPG MNT TEAD3 SLC22A12 NRXN2 LOC105369342 ENSG00000269038 GC11P064541 SLC22A11
GH11F064438 1.1 FANTOM5 ENCODE 11.6 -151.5 -151528 1.3 HDAC1 TBL1XR1 NFRKB ZNF121 GATA2 SMARCA5 SMAD5 ZBTB11 USF2 HDAC8 SLC22A12 NRXN2 SLC22A11 MIR1237 OTUB1 GC11P064445 ENSG00000231492
GH11F064437 0.7 FANTOM5 11.6 -153.0 -152980 0.2 HDGF ATF1 CREB3L1 ZBTB11 DPF2 ARID1B OSR2 IKZF1 ZNF341 MLLT1 SLC22A12 NRXN2 SLC22A11 MIR1237 RPS6KA4 CDC42BPG GC11P064445 ENSG00000231492
GH11F064492 0.6 Ensembl 11.4 -98.0 -98041 0.4 ESRRA PKNOX1 RNF2 NR2F1 ZIC2 BCL11B NR2F2 ZFHX2 CTBP1 GLIS1 NRXN2 LOC100996455 SLC22A12 MIR1237 LOC105369342 GC11M064457
GH11F064489 0.8 Ensembl ENCODE 11.4 -100.6 -100641 0.4 CTCF ATF1 KLF1 ESRRA KLF17 MAX BMI1 ZIC2 RAD21 ZNF335 NRXN2 LOC100996455 SLC22A12 MIR1237 LOC105369342 GC11M064457
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC22A12 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC22A12 Gene

Chromosome:
11
Start:
64,590,641 bp from pter
End:
64,602,353 bp from pter
Size:
11,713 bases
Orientation:
Plus strand

Genomic View for SLC22A12 Gene

Genes around SLC22A12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC22A12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC22A12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC22A12 Gene

Proteins for SLC22A12 Gene

  • Protein details for SLC22A12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96S37-S22AC_HUMAN
    Recommended name:
    Solute carrier family 22 member 12
    Protein Accession:
    Q96S37
    Secondary Accessions:
    • B7WPG1
    • G3XAN7
    • Q19PF7
    • Q19PF8
    • Q19PF9
    • Q19PG0
    • Q6UXW3
    • Q96DT2

    Protein attributes for SLC22A12 Gene

    Size:
    553 amino acids
    Molecular mass:
    59630 Da
    Quaternary structure:
    • Interacts with PDZK1.
    SequenceCaution:
    • Sequence=BAB68364.1; Type=Frameshift; Positions=84, 136; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC22A12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC22A12 Gene

Post-translational modifications for SLC22A12 Gene

  • Glycosylation at Asn 56 and Asn 102
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC22A12

No data available for DME Specific Peptides for SLC22A12 Gene

Domains & Families for SLC22A12 Gene

Gene Families for SLC22A12 Gene

Protein Domains for SLC22A12 Gene

Suggested Antigen Peptide Sequences for SLC22A12 Gene

Graphical View of Domain Structure for InterPro Entry

Q96S37

UniProtKB/Swiss-Prot:

S22AC_HUMAN :
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
Family:
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
genes like me logo Genes that share domains with SLC22A12: view

Function for SLC22A12 Gene

Molecular function for SLC22A12 Gene

UniProtKB/Swiss-Prot Function:
Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions.

Gene Ontology (GO) - Molecular Function for SLC22A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005452 inorganic anion exchanger activity IBA --
GO:0015143 urate transmembrane transporter activity TAS --
GO:0015347 sodium-independent organic anion transmembrane transporter activity IBA --
GO:0022857 transmembrane transporter activity IEA --
GO:0030165 PDZ domain binding IPI 15304510
genes like me logo Genes that share ontologies with SLC22A12: view
genes like me logo Genes that share phenotypes with SLC22A12: view

Human Phenotype Ontology for SLC22A12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC22A12 Gene

MGI Knock Outs for SLC22A12:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC22A12

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC22A12 Gene

Localization for SLC22A12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC22A12 Gene

Cell membrane; Multi-pass membrane protein. Note=Detected in the luminal membrane of the epithelium of renal proximal tubules.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC22A12 Gene COMPARTMENTS Subcellular localization image for SLC22A12 gene
Compartment Confidence
extracellular 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC22A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA 12024214
GO:0016324 apical plasma membrane IDA 12024214
genes like me logo Genes that share ontologies with SLC22A12: view

Pathways & Interactions for SLC22A12 Gene

genes like me logo Genes that share pathways with SLC22A12: view

Interacting Proteins for SLC22A12 Gene

Gene Ontology (GO) - Biological Process for SLC22A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0015698 inorganic anion transport IEA --
GO:0015747 urate transport IDA 12024214
GO:0019725 cellular homeostasis NAS 15772301
genes like me logo Genes that share ontologies with SLC22A12: view

No data available for SIGNOR curated interactions for SLC22A12 Gene

Drugs & Compounds for SLC22A12 Gene

(12) Drugs for SLC22A12 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lesinurad Approved Pharma Target, inhibitor URAT1 inhibitor 19
Losartan Approved Pharma Antagonist, Transporter, inhibitor 282
Probenecid Approved Pharma Inhibition, Inhibitor, Transporter, inhibitor 27
Cytarabine Approved, Investigational Pharma 1093
Fludarabine Approved Pharma DNA synthsis inhibitor 1113,1113

(1) Additional Compounds for SLC22A12 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for SLC22A12 Gene

Compound Action Cas Number
Lesinurad URAT1 inhibitor 878672-00-5
genes like me logo Genes that share compounds with SLC22A12: view

Transcripts for SLC22A12 Gene

Unigene Clusters for SLC22A12 Gene

Solute carrier family 22 (organic anion/urate transporter), member 12:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC22A12 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2:
SP3: - -
SP4: - -

Relevant External Links for SLC22A12 Gene

GeneLoc Exon Structure for
SLC22A12
ECgene alternative splicing isoforms for
SLC22A12

Expression for SLC22A12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC22A12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC22A12 Gene

This gene is overexpressed in Kidney - Cortex (x52.6).

Protein differential expression in normal tissues from HIPED for SLC22A12 Gene

This gene is overexpressed in Urine (55.8) and Liver, secretome (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC22A12 Gene



Protein tissue co-expression partners for SLC22A12 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC22A12 Gene:

SLC22A12

SOURCE GeneReport for Unigene cluster for SLC22A12 Gene:

Hs.174424

mRNA Expression by UniProt/SwissProt for SLC22A12 Gene:

Q96S37-S22AC_HUMAN
Tissue specificity: Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex.
genes like me logo Genes that share expression patterns with SLC22A12: view

Primer Products

Orthologs for SLC22A12 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC22A12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC22A12 34 35
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia SLC22A12 34 35
  • 85.81 (n)
cow
(Bos Taurus)
Mammalia SLC22A12 34 35
  • 79.99 (n)
rat
(Rattus norvegicus)
Mammalia Slc22a12 34
  • 78.24 (n)
mouse
(Mus musculus)
Mammalia Slc22a12 34 16 35
  • 78.06 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8654 36
  • 34 (a)
CG6126 36
  • 28 (a)
Species where no ortholog for SLC22A12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SLC22A12 Gene

ENSEMBL:
Gene Tree for SLC22A12 (if available)
TreeFam:
Gene Tree for SLC22A12 (if available)

Paralogs for SLC22A12 Gene

Variants for SLC22A12 Gene

Sequence variations from dbSNP and Humsavar for SLC22A12 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121907893 Hypouricemia renal 1 (RHUC1) [MIM:220150], Pathogenic 64,593,548(+) GAACA(C/T)GGGCA intron-variant, reference, missense
rs121907894 Hypouricemia renal 1 (RHUC1) [MIM:220150], Pathogenic 64,598,579(+) CAGGA(A/G/T)CTGTG reference, synonymous-codon, missense
rs121907895 Hypouricemia renal 1 (RHUC1) [MIM:220150], Pathogenic 64,599,858(+) AGGGC(C/G/T)CTGCA reference, missense
rs121907896 Hypouricemia renal 1 (RHUC1) [MIM:220150], Pathogenic 64,591,825(+) CCGCC(A/G)CTTCC reference, missense, utr-variant-5-prime
rs149722479 Hypouricemia renal 1 (RHUC1) [MIM:220150] 64,592,788(+) ACCTC(A/C/G)TGTGT reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC22A12 Gene

Variant ID Type Subtype PubMed ID
dgv1965n54 CNV loss 21841781
esv2422214 CNV deletion 17116639
esv2744627 CNV deletion 23290073
nsv1113399 CNV deletion 24896259
nsv1122630 CNV deletion 24896259
nsv1142115 CNV tandem duplication 24896259
nsv1149041 CNV insertion 26484159
nsv528506 CNV loss 19592680
nsv555197 CNV loss 21841781
nsv818842 CNV gain 17921354
nsv832188 CNV gain 17160897

Variation tolerance for SLC22A12 Gene

Residual Variation Intolerance Score: 50.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC22A12 Gene

Human Gene Mutation Database (HGMD)
SLC22A12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC22A12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC22A12 Gene

Disorders for SLC22A12 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SLC22A12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypouricemia, renal
  • renal hypouricemia
hyperuricemia
  • uricacidemia
gout
  • articular gout
acute kidney failure
  • renal failure acute
hemopericardium
  • haemopericardium
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S22AC_HUMAN
  • Hypouricemia renal 1 (RHUC1) [MIM:220150]: 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. {ECO:0000269 PubMed:12024214, ECO:0000269 PubMed:14694169, ECO:0000269 PubMed:15327384, ECO:0000269 PubMed:15634722, ECO:0000269 PubMed:15912381, ECO:0000269 PubMed:16837472, ECO:0000269 PubMed:26418379}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC22A12

Genetic Association Database (GAD)
SLC22A12
Human Genome Epidemiology (HuGE) Navigator
SLC22A12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC22A12
genes like me logo Genes that share disorders with SLC22A12: view

No data available for Genatlas for SLC22A12 Gene

Publications for SLC22A12 Gene

  1. Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout. (PMID: 16837472) Vazquez-Mellado J. … Burgos-Vargas R. (Rheumatology 2007) 3 4 22 46 64
  2. Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population. (PMID: 16385546) Graessler J. … Schroeder H.-E. (Arthritis Rheum. 2006) 3 4 22 46 64
  3. Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease. (PMID: 19890391) Stark K. … Hengstenberg C. (PLoS ONE 2009) 3 22 46 64
  4. T6092C polymorphism of SLC22A12 gene is associated with serum uric acid concentrations in Korean male subjects. (PMID: 18824160) Jang W.C. … Kim S.K. (Clin. Chim. Acta 2008) 3 22 46 64
  5. Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects. (PMID: 19019168) Lee J.H. … Cheong H.I. (Nephrology (Carlton) 2008) 3 22 46 64

Products for SLC22A12 Gene

Sources for SLC22A12 Gene

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