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SLC17A3 (solute carrier family 17 member 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10786
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 17 member 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC17A3
SynonymsGene synonyms aliases
GOUT4, NPT4, UAQTL4
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.2
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer iso
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387907257 T>G Risk-factor Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017850 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005436 Function Sodium:phosphate symporter activity ISS
GO:0005436 Function Sodium:phosphate symporter activity TAS
GO:0005737 Component Cytoplasm IDA 20810651
GO:0005764 Component Lysosome IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IDA 15505377
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O00476
Protein name Sodium-dependent phosphate transport protein 4 (Na(+)/PI cotransporter 4) (NPT4) (Sodium/phosphate cotransporter 4) (Solute carrier family 17 member 3)
Protein function [Isoform 2]: Transports organic anions in a voltage-driven, multispecific, manner, on the apical side of renal proximal tubule (PubMed:20810651). In particular, participates in the secretion of urate from the cell into the lumen (PubMed:20810651
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1
100 355
Major Facilitator Superfamily
Family
Sequence
Sequence length 420
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Stimuli-sensing channels
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 29059683
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 19571809, 26198764
Unknown
Disease name Disease term dbSNP ID References
Coronary heart disease Coronary heart disease rs9289231, rs281864746 21971053
Gout Gout 20884846, 23263486, 18834626, 21768215
Gouty arthritis Arthritis, Gouty 20884846, 18834626, 23263486, 21768215

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