Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC22A12 Gene

Aliases for SLC22A12 Gene

  • Solute Carrier Family 22 Member 12 2 3
  • Solute Carrier Family 22 (Organic Anion/Urate Transporter), Member 12 2 3 5
  • 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
  • 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 Uricosurics Pathway, Pharmacodynamics 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

Regulatory Elements for SLC22A12 Gene

Enhancers for SLC22A12 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for SLC22A12 Gene at MOPED

Post-translational modifications for SLC22A12 Gene

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

Other Protein References for SLC22A12 Gene

Antibody Products

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

InterPro:
ProtoNet:

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.
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

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 --
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:0019725 cellular homeostasis NAS 15772301
GO:0042493 response to drug IDA 12024214
GO:0098656 anion transmembrane transport IBA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Losartan Approved Pharma Antagonist, Transporter, inhibitor 277
Probenecid Approved Pharma Inhibition, Inhibitor, Transporter, inhibitor 27
Cytarabine Approved, Investigational Pharma 1054
Fludarabine Approved Pharma DNA synthsis inhibitor 1075
Gemtuzumab ozogamicin Approved, Investigational, Withdrawn Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (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



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

Protein tissue co-expression partners for SLC22A12 Gene

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
cow
(Bos Taurus)
Mammalia SLC22A12 35
  • 79.99 (n)
  • 69.84 (a)
SLC22A12 36
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC22A12 35
  • 85.81 (n)
  • 82.79 (a)
SLC22A12 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc22a12 35
  • 78.06 (n)
  • 73.96 (a)
Slc22a12 16
Slc22a12 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC22A12 35
  • 99.04 (n)
  • 99.1 (a)
SLC22A12 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc22a12 35
  • 78.24 (n)
  • 74.14 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6126 37
  • 28 (a)
CG8654 37
  • 34 (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
rs12800450 - 64,591,749(+) TCCTA(G/T)GGAGC reference, missense, utr-variant-5-prime
VAR_036721 Hypouricemia renal 1 (RHUC1)
VAR_036722 -
VAR_036723 Hypouricemia renal 1 (RHUC1)
VAR_036724 Hypouricemia renal 1 (RHUC1)

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

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

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

Disorders for SLC22A12 Gene

MalaCards: The human disease database

(12) 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 23 48 67
  2. Multiple single nucleotide polymorphisms in the human urate transporter 1 (hURAT1) gene are associated with hyperuricaemia in Han Chinese. (PMID: 19833602) Li C. … Mi Q.S. (J. Med. Genet. 2010) 3 23
  3. Predictive value of 8 genetic loci for serum uric acid concentration. (PMID: 20162742) Gunjaca G. … Polasek O. (Croat. Med. J. 2010) 3 23
  4. Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series. (PMID: 20162743) Polasek O. … KolciA8 I. (Croat. Med. J. 2010) 3 23
  5. Oxidative imbalance in idiopathic renal hypouricemia. (PMID: 18936980) Kaneko K. … Nozu K. (Pediatr. Nephrol. 2009) 3 23

Products for SLC22A12 Gene

Sources for SLC22A12 Gene

Content