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Aliases for SLC22A12 Gene

Aliases for SLC22A12 Gene

  • Solute Carrier Family 22 (Organic Anion/Urate Transporter), Member 12 2 3
  • URAT1 3 4 6
  • Solute Carrier Family 22 (Organic Anion/Cation Transporter), Member 12 2 3
  • Organic Anion Transporter 4-Like Protein 3 4
  • Renal-Specific Transporter 3 4
  • Urate Anion Exchanger 1 3 4
  • OAT4L 3 6
  • RST 3 4
  • Solute Carrier Family 22 Member 12 3
  • Urate Transporter 1 3
  • OATL4 4

External Ids for SLC22A12 Gene

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 (Organic Anion/Urate Transporter), Member 12) is a Protein Coding gene. Diseases associated with SLC22A12 include hypouricemia, renal and gout. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include PDZ domain binding and urate transmembrane transporter activity. An important paralog of this gene is SLC22A7.

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

Genomic Location for SLC22A12 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC22A12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC22A12 Gene

Regulatory Elements 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

Proteomics data for SLC22A12 Gene at MOPED

Post-translational modifications for SLC22A12 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn56 and Asn102

Other Protein References for SLC22A12 Gene

No data available for DME Specific Peptides for SLC22A12 Gene

Domains for SLC22A12 Gene

Gene Families for SLC22A12 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC22A12 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

S22AC_HUMAN
Family:
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.:
    • Q96S37
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:0005515 protein binding --
GO:0015143 urate transmembrane transporter activity IDA 12024214
GO:0022857 transmembrane transporter activity --
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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
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:0016021 integral component of membrane IDA 12024214
GO:0016324 apical plasma membrane IDA 12024214
GO:0031526 brush border membrane NAS 12024214
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SLC22A12: view

Pathways 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:0015747 urate transport IDA 12024214
GO:0015849 organic acid transport --
GO:0019725 cellular homeostasis NAS 15772301
GO:0042493 response to drug IDA 12024214
GO:0046415 urate metabolic process IMP 19503597
genes like me logo Genes that share ontologies with SLC22A12: view

Compounds for SLC22A12 Gene

(7) Novoseek inferred chemical compound relationships for SLC22A12 Gene

Compound -log(P) Hits PubMed IDs
uric acid 88.6 66
benzbromarone 87.8 9
probenecid 55.9 3
losartan 52.9 10
pyrazinamide 45.8 3

(4) PharmGKB related drug/compound annotations for SLC22A12 Gene

Drug/compound Annotation
cytarabine CA
fludarabine CA
gemtuzumab ozogamicin CA
idarubicin CA
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:

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 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 (52.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC22A12 Gene

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 expressions with SLC22A12: view

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 36
  • 99.04 (n)
  • 99.1 (a)
SLC22A12 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC22A12 36
  • 79.99 (n)
  • 69.84 (a)
SLC22A12 37
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC22A12 36
  • 85.81 (n)
  • 82.79 (a)
SLC22A12 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc22a12 36
  • 78.06 (n)
  • 73.96 (a)
Slc22a12 16
Slc22a12 37
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 49 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Slc22a12 36
  • 78.24 (n)
  • 74.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8654 38
  • 34 (a)
CG6126 38
  • 28 (a)
Species with no ortholog for SLC22A12:
  • 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

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

Variants for SLC22A12 Gene

Sequence variations from dbSNP and Humsavar for SLC22A12 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs475688 -- 64,596,819(-) CCTTG(A/G)AATTT intron-variant
rs476037 -- 64,602,068(-) TGTGG(C/T)GGGCA utr-variant-3-prime, downstream-variant-500B
rs505802 -- 64,589,600(-) ACCAC(A/G)TGCCC upstream-variant-2KB
rs507536 -- 64,589,440(-) CTACA(A/C)CTAGG upstream-variant-2KB
rs524023 -- 64,590,793(-) TGCCC(A/G)CTTTG upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv897692 CNV Loss 21882294
nsv897693 CNV Loss 21882294
esv2422214 CNV Deletion 17116639
nsv832188 CNV Gain 17160897
nsv897694 CNV Loss 21882294
nsv818842 CNV Gain 17921354
nsv528506 CNV Loss 19592680
dgv1171n71 CNV Loss 21882294
esv2744627 CNV Deletion 23290073
nsv897696 CNV Loss 21882294

Relevant External Links for SLC22A12 Gene

HapMap Linkage Disequilibrium report
SLC22A12
Human Gene Mutation Database (HGMD)
SLC22A12

Disorders for SLC22A12 Gene

(1) OMIM Diseases for SLC22A12 Gene (607096)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SLC22A12 Gene

(5) Novoseek inferred disease relationships for SLC22A12 Gene

Disease -log(P) Hits PubMed IDs
hypouricemia, renal 98.2 22
hypouricemia 92.5 3
hyperuricemia 84.9 6
gout 75 2
renal failure acute 64.1 1

Relevant External Links for SLC22A12

Genetic Association Database (GAD)
SLC22A12
Human Genome Epidemiology (HuGE) Navigator
SLC22A12
genes like me logo Genes that share disorders with SLC22A12: view

Publications for SLC22A12 Gene

  1. 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 23 49
  2. Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout. (PMID: 16837472) Vazquez-Mellado J. … Burgos-Vargas R. (Rheumatology 2007) 3 4 23 49
  3. Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects. (PMID: 19019168) Lee J.H. … Cheong H.I. (Nephrology (Carlton) 2008) 3 23 49
  4. Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. (PMID: 14694169) Ichida K. … Hosoya T. (J. Am. Soc. Nephrol. 2004) 3 4 23
  5. Association between intronic SNP in urate-anion exchanger gene, SLC22A12, and serum uric acid levels in Japanese. (PMID: 16920156) Shima Y. … Ohta H. (Life Sci. 2006) 3 23 49

Products for SLC22A12 Gene

Sources for SLC22A12 Gene

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