SLC17A3 (solute carrier family 17 member 3)

2014-11-01  

Identity

HGNC
LOCATION
6p22.2
LOCUSID
ALIAS
GOUT4,NPT4,UAQTL4

Other Information

Locus ID:

NCBI: 10786
MIM: 611034
HGNC: 10931
Ensembl: ENSG00000124564

Variants:

dbSNP: 10786
ClinVar: 10786
TCGA: ENSG00000124564
COSMIC: SLC17A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124564ENST00000360657O00476
ENSG00000124564ENST00000360657A0A024QZX7
ENSG00000124564ENST00000361703O00476
ENSG00000124564ENST00000361703A0A024QZX7
ENSG00000124564ENST00000397060O00476
ENSG00000124564ENST00000449356E9PBQ8
ENSG00000124564ENST00000481949H0Y8R7
ENSG00000124564ENST00000505420H0Y9F7
ENSG00000124564ENST00000506105E9PBQ8

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

References

Pubmed IDYearTitleCitations
195718092009Common variants on chromosome 6p22.1 are associated with schizophrenia.407
188346262008Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.221
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198903912009Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.34
208106512010Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate.28
200534052010Sex and age interaction with genetic association of atherogenic uric acid concentrations.10
200534052010Sex and age interaction with genetic association of atherogenic uric acid concentrations.10
155053772004NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic.5
201627432010Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series.3
201627432010Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series.3

Citation

Dessen P

SLC17A3 (solute carrier family 17 member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73302/slc17a3