SLC22A11 (solute carrier family 22 member 11)

2014-11-01  

Identity

HGNC
SLC22A11
LOCATION
11q13.1
LOCUSID
55867
ALIAS
OAT4,hOAT4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55867
MIM: 607097
HGNC: 18120
Ensembl: ENSG00000168065

Variants:

dbSNP: 55867
ClinVar: 55867
TCGA: ENSG00000168065
COSMIC: SLC22A11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168065ENST00000301891Q9NSA0
ENSG00000168065ENST00000377581A6NCG2
ENSG00000168065ENST00000377585Q9NSA0
ENSG00000168065ENST00000416590H7C3R9
ENSG00000168065ENST00000428570H7C0B7

Expression (GTEx)

0
5
10
15
20
25
30
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
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD26086825
PA444318GoutDiseaseVariantAnnotationnot associatedPD29341237
PA448320allopurinolChemicalVariantAnnotationnot associatedPD29341237
PA450428methotrexateChemicalClinicalAnnotationassociatedPD26086825
PA451954zidovudineChemicalPathwayassociated22960662

References

Pubmed IDYearTitleCitations
195035972009Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.228
208848462010Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.135
194007472009Predictors of kidney tubular dysfunction in HIV-infected patients treated with tenofovir: a pharmacogenetic study.60
172299122007Human renal organic anion transporter 4 operates as an asymmetric urate transporter.48
155766332005The role of N-linked glycosylation in protein folding, membrane targeting, and substrate binding of human organic anion transporter hOAT4.42
198903912009Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.34
198614892010Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms.33
227533872013A urate gene-by-diuretic interaction and gout risk in participants with hypertension: results from the ARIC study.18
240259862014A common variant of organic anion transporter 4 (OAT4/SLC22A11) gene is associated with renal underexcretion type gout.16
176022832008Comparison of the interaction of human organic anion transporter hOAT4 with PDZ proteins between kidney cells and placental cells.13

Citation

Dessen P

SLC22A11 (solute carrier family 22 member 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73315/slc22a11