SLC14A2 (solute carrier family 14 member 2)

2016-08-01  

Identity

HGNC
LOCATION
18q12.3
LOCUSID
ALIAS
HUT2,UT-A2,UT2,UTA,UTR,hUT-A6
FUSION GENES

Other Information

Locus ID:

NCBI: 8170
MIM: 601611
HGNC: 10919
Ensembl: ENSG00000132874

Variants:

dbSNP: 8170
ClinVar: 8170
TCGA: ENSG00000132874
COSMIC: SLC14A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132874ENST00000255226Q15849
ENSG00000132874ENST00000323329E7EPU1
ENSG00000132874ENST00000586448Q15849

Expression (GTEx)

0
1
2

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD17344938
PA450631nifedipineChemicalClinicalAnnotationassociatedPD17344938

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
192601412009Genome-wide association study of biochemical traits in Korcula Island, Croatia.30
151898122004Characterization of a human colonic cDNA encoding a structurally novel urea transporter, hUT-A6.15
115901322001Genetic variation in the human urea transporter-2 is associated with variation in blood pressure.9
164807662006Functional and molecular expression of AQP9 channel and UT-A transporter in normal and preeclamptic human placentas.8
172649862006Genomic organization of the mammalian SLC14a2 urea transporter genes.8
252983382014Genes and proteins of urea transporters.8
207973942010Genetic variants of human urea transporter-2 are associated with metabolic syndrome in Asian population.6
207973942010Genetic variants of human urea transporter-2 are associated with metabolic syndrome in Asian population.6
173449382007Genetic polymorphisms of the urea transporter gene are associated with antihypertensive response to nifedipine GITS.4

Citation

Dessen P

SLC14A2 (solute carrier family 14 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55875/slc14a2