SLC22A12 (solute carrier family 22 member 12)

2014-11-01  

Identity

HGNC
SLC22A12
LOCATION
11q13.1
LOCUSID
116085
ALIAS
OAT4L,RST,URAT1

Other Information

Locus ID:

NCBI: 116085
MIM: 607096
HGNC: 17989
Ensembl: ENSG00000197891

Variants:

dbSNP: 116085
ClinVar: 116085
TCGA: ENSG00000197891
COSMIC: SLC22A12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197891ENST00000336464Q96S37
ENSG00000197891ENST00000377567Q96S37
ENSG00000197891ENST00000377572Q96S37
ENSG00000197891ENST00000377574Q96S37
ENSG00000197891ENST00000473690Q96S37

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Organic cation/anion/zwitterion transportREACTOMER-HSA-549132
Organic anion transportREACTOMER-HSA-561048

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164749431gemtuzumab ozogamicinChemicalClinicalAnnotationassociatedPD22584460
PA444760Leukemia, Myeloid, AcuteDiseaseClinicalAnnotationassociatedPD22584460
PA449177cytarabineChemicalClinicalAnnotationassociatedPD22584460
PA449655fludarabineChemicalClinicalAnnotationassociatedPD22584460
PA449961idarubicinChemicalClinicalAnnotationassociatedPD22584460

References

Pubmed IDYearTitleCitations
120242142002Molecular identification of a renal urate anion exchanger that regulates blood urate levels.259
195035972009Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.228
187014662008Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans.80
217682152011Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.47
153045102004The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus.39
198903912009Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.34
278993762017GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.34
163855462006Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population.27
153273842004A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.26
153273842004A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.26

Citation

Dessen P

SLC22A12 (solute carrier family 22 member 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73316/slc22a12