SLC17A3

Summary

SLC17A3 (solute carrier family 17 member 3, HGNC:10931) is a protein-coding gene on chromosome 6p22.2, encoding Sodium-dependent phosphate transport protein 4 (O00476). Mediates the renal excretion of uremic toxin 3-indoxyl sulfate.

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 isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum.

Source: NCBI Gene 10786 — RefSeq curated summary.

At a glance

• Gene–disease (curated): uric acid concentration, serum, quantitative trait locus 4 (Limited, GenCC)
• GWAS associations: 68
• Clinical variants (ClinVar): 65 total
• Phenotypes (HPO): 4
• MANE Select transcript: NM_001098486

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10931
Approved symbol	SLC17A3
Name	solute carrier family 17 member 3
Location	6p22.2
Locus type	gene with protein product
Status	Approved
Aliases	NPT4
Ensembl gene	ENSG00000124564
Ensembl biotype	protein_coding
OMIM	611034
Entrez	10786

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 25 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000308453, ENST00000360657, ENST00000361703, ENST00000397060, ENST00000449356, ENST00000481949, ENST00000503922, ENST00000505420, ENST00000506105, ENST00000509714, ENST00000861065, ENST00000861066, ENST00000861067, ENST00000861068, ENST00000861069, ENST00000861070, ENST00000861071, ENST00000861072, ENST00000861073, ENST00000861074, ENST00000861075, ENST00000861076, ENST00000861077, ENST00000861078, ENST00000861079, ENST00000861080, ENST00000861081, ENST00000861082, ENST00000861083, ENST00000861084

RefSeq mRNA: 2 — MANE Select: NM_001098486 NM_001098486, NM_006632

CCDS: CCDS4566, CCDS47385

Canonical transcript exons

ENST00000397060 — 13 exons

Exon	Start	End
ENSE00001527167	25874167	25874243
ENSE00001711693	25844856	25845298
ENSE00001765305	25850048	25850177
ENSE00001976591	25849805	25849952
ENSE00001979513	25849374	25849464
ENSE00001983736	25845380	25845516
ENSE00002031317	25850459	25850620
ENSE00003509518	25861624	25861711
ENSE00003535539	25868297	25868420
ENSE00003579855	25862233	25862444
ENSE00003582255	25850759	25850877
ENSE00003590501	25861796	25862029
ENSE00003632412	25855144	25855230

Expression profiles

Bgee: expression breadth ubiquitous, 114 present calls, max score 93.82.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1073 / max 70.8902, expressed in 16 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72284	0.0953	15
72285	0.0075	4
72283	0.0045	2

Top tissues by expression

262 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
nephron tubule	UBERON:0001231	93.82	gold quality
adult mammalian kidney	UBERON:0000082	92.24	gold quality
kidney epithelium	UBERON:0004819	92.24	gold quality
right lobe of liver	UBERON:0001114	91.24	gold quality
renal glomerulus	UBERON:0000074	89.87	gold quality
metanephric glomerulus	UBERON:0004736	89.87	gold quality
kidney	UBERON:0002113	86.46	gold quality
adult organism	UBERON:0007023	85.14	gold quality
cortex of kidney	UBERON:0001225	84.61	gold quality
liver	UBERON:0002107	84.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.37	gold quality
metanephros	UBERON:0000081	74.84	gold quality
metanephros cortex	UBERON:0010533	66.49	gold quality
ileal mucosa	UBERON:0000331	62.65	silver quality
renal medulla	UBERON:0000362	62.20	gold quality
tibialis anterior	UBERON:0001385	61.91	silver quality
right adrenal gland	UBERON:0001233	61.54	gold quality
left adrenal gland	UBERON:0001234	59.74	gold quality
right adrenal gland cortex	UBERON:0035827	59.53	gold quality
left adrenal gland cortex	UBERON:0035825	58.17	gold quality
descending thoracic aorta	UBERON:0002345	57.57	gold quality
adrenal cortex	UBERON:0001235	57.17	gold quality
granulocyte	CL:0000094	56.95	gold quality
adrenal gland	UBERON:0002369	56.64	gold quality
colonic epithelium	UBERON:0000397	55.46	gold quality
deltoid	UBERON:0001476	54.11	gold quality
thoracic aorta	UBERON:0001515	54.09	gold quality
ascending aorta	UBERON:0001496	53.82	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	52.81	gold quality
pancreatic ductal cell	CL:0002079	50.95	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting SLC17A3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-491-3P	98.88	68.86	1224
HSA-MIR-12125	98.59	67.54	1044
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-203B-3P	97.82	66.27	979
HSA-MIR-3614-3P	97.81	67.15	582
HSA-MIR-101-5P	96.84	65.66	649
HSA-MIR-4695-3P	96.71	67.21	836

Literature-anchored findings (GeneRIF, showing 9)

• mutation reduces the phosphate transport efficiency, possibly modulating the G6-Pase complex (PMID:15505377)
• Genetic variants within SLC2A9,ABCG2 and SLC17A3 are associated with uric acid levels (PMID:20053405)
• SLC17A3 seems to have a major role in determination of serum uric acid repeated measurements variation. (PMID:20162743)
• a model of urate secretion in the renal tubular cell, where intracellular urate taken up via OAT1 and/or OAT3 from the blood exits from the cell into the lumen via hNPT4. (PMID:20810651)
• variants carrying SNP V257F, G279R, or P378L exhibited reduced transport of para-aminohippurate, bumetanide, estrone and urate; SNPs may contribute to inter-individual differences in disposition of anionic drugs and certain endogenous organic anions (PMID:21282933)
• hNPT4 (SLC17A3) mediated time- and concentration-dependent uptake of OTxA (K(m): 802.8 microM) in a pH- and voltage-sensitive manner. (PMID:21778665)
• Study used rs548987 of SLC17A3 as a candidate variant of ischemic stroke and performed association analysis in a Chinese population; although rs548987 failed to show significant association with total ischemic stroke and large vessel disease subtype, the C allele of rs548987 showed significant association with small vessel disease subtype of ischemic stroke (OR=0.68, p=0.004). (PMID:27772792)
• SLC17A3 rs9379800 and Ischemic Stroke Susceptibility at the Northern Region of Malaysia. (PMID:34384670)
• Brain age estimation at tract group level and its association with daily life measures, cardiac risk factors and genetic variants. (PMID:34663856)

Cross-species orthologs

56 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc17a5	ENSDARG00000055190
danio_rerio	slc37a4b	ENSDARG00000077180
danio_rerio	si:ch1073-513e17.1	ENSDARG00000086739
danio_rerio	slc37a4bl	ENSDARG00000093531
mus_musculus	Slc17a3	ENSMUSG00000036083
rattus_norvegicus	Slc17a3	ENSRNOG00000032745
drosophila_melanogaster	dmGlut	FBGN0010497
drosophila_melanogaster	MFS14	FBGN0010651
drosophila_melanogaster	Picot	FBGN0024315
drosophila_melanogaster	CG9254	FBGN0028513
drosophila_melanogaster	CG6978	FBGN0029727
drosophila_melanogaster	VGlut	FBGN0031424
drosophila_melanogaster	CG7881	FBGN0033048
drosophila_melanogaster	MFS12	FBGN0033234
drosophila_melanogaster	MFS15	FBGN0034392
drosophila_melanogaster	CG15096	FBGN0034394
drosophila_melanogaster	MFS16	FBGN0034611
drosophila_melanogaster	CG12490	FBGN0034782
drosophila_melanogaster	CG9825	FBGN0034783
drosophila_melanogaster	CG9826	FBGN0034784
drosophila_melanogaster	CG3649	FBGN0034785
drosophila_melanogaster	CG2003	FBGN0039886
drosophila_melanogaster	CG30265	FBGN0050265
drosophila_melanogaster	MFS1	FBGN0050272
caenorhabditis_elegans		WBGENE00001135
caenorhabditis_elegans		WBGENE00007669
caenorhabditis_elegans		WBGENE00008000
caenorhabditis_elegans		WBGENE00008677
caenorhabditis_elegans		WBGENE00010755
caenorhabditis_elegans		WBGENE00010931
caenorhabditis_elegans		WBGENE00011185
caenorhabditis_elegans		WBGENE00011349
caenorhabditis_elegans		WBGENE00011556
caenorhabditis_elegans		WBGENE00011688
caenorhabditis_elegans		WBGENE00012443
caenorhabditis_elegans		WBGENE00015271
caenorhabditis_elegans		WBGENE00015272
caenorhabditis_elegans		WBGENE00016003
caenorhabditis_elegans		WBGENE00018429
caenorhabditis_elegans		WBGENE00018918
caenorhabditis_elegans		WBGENE00018920
caenorhabditis_elegans		WBGENE00019187
caenorhabditis_elegans		WBGENE00019655
caenorhabditis_elegans		WBGENE00020583
caenorhabditis_elegans		WBGENE00020584
caenorhabditis_elegans		WBGENE00020697
caenorhabditis_elegans		WBGENE00020698
caenorhabditis_elegans		WBGENE00020699
caenorhabditis_elegans		WBGENE00020700
caenorhabditis_elegans		WBGENE00021157
caenorhabditis_elegans		WBGENE00021158
caenorhabditis_elegans		WBGENE00021219
caenorhabditis_elegans		WBGENE00021220
caenorhabditis_elegans		WBGENE00021223
caenorhabditis_elegans		WBGENE00021226
caenorhabditis_elegans		WBGENE00302978

Paralogs (12): SLC17A6 (ENSG00000091664), SLC17A9 (ENSG00000101194), SLC17A7 (ENSG00000104888), SLC17A2 (ENSG00000112337), SLC17A5 (ENSG00000119899), SLC17A1 (ENSG00000124568), SLC37A2 (ENSG00000134955), SLC37A4 (ENSG00000137700), SLC17A4 (ENSG00000146039), SLC37A3 (ENSG00000157800), SLC37A1 (ENSG00000160190), SLC17A8 (ENSG00000179520)

Protein

Protein identifiers

Sodium-dependent phosphate transport protein 4 — O00476 (reviewed: O00476)

Alternative names: Na(+)/PI cotransporter 4, Sodium/phosphate cotransporter 4, Solute carrier family 17 member 3

All UniProt accessions (4): E9PBQ8, O00476, H0Y8R7, H0Y9F7

UniProt curated annotations — full annotation on UniProt →

Function. Mediates the renal excretion of uremic toxin 3-indoxyl sulfate. Transports organic anions in a voltage-driven, multispecific, manner, on the apical side of renal proximal tubule. In particular, participates in the secretion of urate from the cell into the lumen. Urate is the end product of purine metabolism. May have roles in the metabolism and secretion of estrone sulfate, estradiol-17-beta-glucuronide, ochratoxin A, as wells as drugs such as bumetanide.

Subcellular location. Endoplasmic reticulum membrane Cell membrane.

Tissue specificity. Expressed in the liver and kidney. It is detected in proximal tubules in renal cortex as well as some tubules and glomeruli, with highest expression at the apical side of proximal tubules (at protein level).

Polymorphism. Genetic variations in SLC17A3 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 4 (UAQTL4) [MIM:612671]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia.

Similarity. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.

Isoforms (2)

UniProt ID	Names	Canonical?
O00476-1	1	yes
O00476-2	2

RefSeq proteins (2): NP_001091956, NP_006623 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011701	MFS	Family
IPR017373	Na-dep_P-transpt_4_prd	Family
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR050382	MFS_Na/Anion_cotransporter	Family

Pfam: PF07690

Catalyzed reactions (Rhea), 2 shown:

• urate(in) + Na(+)(out) = urate(out) + Na(+)(in) (RHEA:72383)
• indoxyl sulfate(out) = indoxyl sulfate(in) (RHEA:82891)

UniProt features (22 total): transmembrane region 8, sequence variant 5, glycosylation site 4, sequence conflict 2, chain 1, splice variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00476-F1	79.15	0.38

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (4): 49, 60, 68, 77

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2672351	Stimuli-sensing channels

MSigDB gene sets: 161 (showing top): MORF_MSH3, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, MODULE_64, GOBP_INORGANIC_ANION_TRANSPORT, LEE_LIVER_CANCER_CIPROFIBRATE_DN, MORF_RAD51L3, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, MODULE_368, MODULE_379, MORF_CTSB, GOBP_PHOSPHATE_ION_TRANSPORT, GOBP_DETOXIFICATION, GOBP_ORGANIC_ANION_TRANSPORT, MODULE_88

GO Biological Process (12): sodium ion transport (GO:0006814), phosphate ion transport (GO:0006817), obsolete organic anion transport (GO:0015711), urate transport (GO:0015747), glucose-6-phosphate transport (GO:0015760), monoatomic ion transmembrane transport (GO:0034220), urate metabolic process (GO:0046415), xenobiotic detoxification by transmembrane export across the plasma membrane (GO:1990961), monoatomic ion transport (GO:0006811), sodium ion transmembrane transport (GO:0035725), transmembrane transport (GO:0055085), monoatomic anion transmembrane transport (GO:0098656)

GO Molecular Function (9): sodium:phosphate symporter activity (GO:0005436), voltage-gated monoatomic anion channel activity (GO:0008308), obsolete organic anion transmembrane transporter activity (GO:0008514), urate transmembrane transporter activity (GO:0015143), efflux transmembrane transporter activity (GO:0015562), toxin transmembrane transporter activity (GO:0019534), xenobiotic transmembrane transporter activity (GO:0042910), symporter activity (GO:0015293), transmembrane transporter activity (GO:0022857)

GO Cellular Component (9): cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), brush border membrane (GO:0031526), perinuclear region of cytoplasm (GO:0048471), endoplasmic reticulum (GO:0005783), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Ion channel transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
transmembrane transporter activity	3
transmembrane transport	2
transport	2
cytoplasm	2
metal ion transport	1
inorganic anion transport	1
nitrogen compound transport	1
hexose phosphate transport	1
monoatomic ion transport	1
small molecule metabolic process	1
purine-containing compound metabolic process	1
xenobiotic export from cell	1
detoxification	1
export across plasma membrane	1
sodium ion transport	1
monoatomic cation transmembrane transport	1
cellular process	1
monoatomic anion transport	1
monoatomic ion transmembrane transport	1
phosphate transmembrane transporter activity	1
solute:sodium symporter activity	1
voltage-gated monoatomic ion channel activity	1
monoatomic anion channel activity	1
urate transport	1
salt transmembrane transporter activity	1
xenobiotic transport	1
secondary active transmembrane transporter activity	1
transporter activity	1
intracellular anatomical structure	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
brush border	1
apical plasma membrane	1
cell projection membrane	1

Protein interactions and networks

STRING

640 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC17A3	SLC2A9	Q9NRM0	819
SLC17A3	SLC22A12	Q96S37	819
SLC17A3	SLC22A11	Q9NSA0	800
SLC17A3	SLC37A4	O43826	799
SLC17A3	SLC22A13	Q9Y226	725
SLC17A3	SLC16A9	Q7RTY1	713
SLC17A3	SLC34A1	Q06495	689
SLC17A3	SLC22A8	Q8TCC7	674
SLC17A3	ABCG2	Q9UNQ0	661
SLC17A3	SLC22A6	Q4U2R8	657
SLC17A3	ABCC4	O15439	638
SLC17A3	G6PC1	P35575	611
SLC17A3	SLC22A9	Q8IVM8	611
SLC17A3	PDZK1	Q5T2W1	595
SLC17A3	CARMIL1	Q5VZK9	573

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SLC17A3	ADCY3	psi-mi:“MI:0914”(association)	0.350

BioGRID (18): SELENBP1 (Cross-Linking-MS (XL-MS)), ADCY3 (Affinity Capture-MS), AMFR (Affinity Capture-MS), BAG5 (Affinity Capture-MS), BAG6 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), CDKAL1 (Affinity Capture-MS), CYP20A1 (Affinity Capture-MS), CYP51A1 (Affinity Capture-MS), DNAJB1 (Affinity Capture-MS), DNAJB4 (Affinity Capture-MS), ESYT1 (Affinity Capture-MS), FAF2 (Affinity Capture-MS), NPLOC4 (Affinity Capture-MS), POR (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4ILB2, A0A8M9Q308, A1A4N1, A2CER7, A5D7V7, A8WGF7, B0S5Y3, B2RXV4, B5X4H8, O00400, O00476, O01735, O23596, P30638, P36836, P46029, P60815, Q11073, Q16348, Q28722, Q28FF3, Q503P5, Q5F4B8, Q5RBM3, Q5XGK0, Q63424, Q6AYY8, Q6DDL7, Q6DIT7, Q6GMG6, Q6PB15, Q7Z3Q1, Q84XI3, Q86WB7, Q91X85, Q944P0, Q99808, Q99J27, Q9BZD2, Q9C8X2

Diamond homologs: A4FV52, A6QLI1, O00476, O00624, O61369, O82390, P34644, Q03567, Q05B21, Q0IZQ3, Q10046, Q14916, Q1L8X9, Q28722, Q2QWW7, Q32LF0, Q3E9A0, Q3TXX4, Q53P54, Q5NCM1, Q5Q0U0, Q5SZA1, Q5W8I7, Q5W8I8, Q61983, Q62634, Q62795, Q652N5, Q66GI9, Q6INC8, Q7TSF2, Q8BFU8, Q8BLE7, Q8BN82, Q8GX78, Q8NDX2, Q9FKV1, Q9JI12, Q9MZD1, Q9NRA2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

65 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	2
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

1583 predictions. Top by Δscore:

Variant	Effect	Δscore
6:25861712:C:CC	acceptor_gain	1.0000
6:25862227:GCTTA:G	donor_loss	1.0000
6:25862228:CTTA:C	donor_loss	1.0000
6:25862229:TTA:T	donor_loss	1.0000
6:25862230:TA:T	donor_loss	1.0000
6:25862231:A:C	donor_loss	1.0000
6:25862232:C:A	donor_loss	1.0000
6:25862445:C:CC	acceptor_gain	1.0000
6:25849859:AAT:A	donor_gain	0.9900
6:25850754:TGTA:T	donor_loss	0.9900
6:25850755:GTA:G	donor_loss	0.9900
6:25850756:TAC:T	donor_loss	0.9900
6:25850757:ACC:A	donor_loss	0.9900
6:25850758:CC:C	donor_loss	0.9900
6:25850759:C:G	donor_loss	0.9900
6:25855226:CATTC:C	acceptor_gain	0.9900
6:25855228:TTC:T	acceptor_gain	0.9900
6:25855231:C:CA	acceptor_loss	0.9900
6:25855232:TG:T	acceptor_loss	0.9900
6:25861906:C:CT	donor_gain	0.9900
6:25861924:CT:C	donor_gain	0.9900
6:25862231:A:AC	donor_gain	0.9900
6:25862232:C:CC	donor_gain	0.9900
6:25868300:T:A	donor_gain	0.9900
6:25868419:ACC:A	acceptor_loss	0.9900
6:25868421:C:CA	acceptor_loss	0.9900
6:25868422:T:C	acceptor_loss	0.9900
6:25874166:CCGA:C	donor_gain	0.9900
6:25849845:G:T	donor_gain	0.9800
6:25849949:CTTC:C	acceptor_gain	0.9800

AlphaMissense

3217 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:25850530:A:G	W230R	0.987
6:25850530:A:T	W230R	0.987
6:25845499:C:A	W382C	0.986
6:25845499:C:G	W382C	0.986
6:25855166:C:A	W152C	0.984
6:25855166:C:G	W152C	0.984
6:25845412:C:A	W411C	0.983
6:25845412:C:G	W411C	0.983
6:25850067:C:A	R290S	0.981
6:25850067:C:G	R290S	0.981
6:25845501:A:G	W382R	0.980
6:25845501:A:T	W382R	0.980
6:25850048:C:G	G297R	0.980
6:25850048:C:T	G297R	0.980
6:25855168:A:G	W152R	0.979
6:25855168:A:T	W152R	0.979
6:25849863:C:G	G327R	0.978
6:25849863:C:T	G327R	0.978
6:25850161:G:T	A259D	0.977
6:25845414:A:G	W411R	0.976
6:25845414:A:T	W411R	0.976
6:25855154:G:C	F156L	0.974
6:25855154:G:T	F156L	0.974
6:25855156:A:G	F156L	0.974
6:25861672:A:G	W115R	0.973
6:25861672:A:T	W115R	0.973
6:25849862:C:T	G327E	0.972
6:25849952:C:T	G297E	0.972
6:25850537:G:C	S227R	0.971
6:25850537:G:T	S227R	0.971

dbSNP variants (sampled 300 via entrez): RS1000084487 (6:25868398 C>T), RS1000196633 (6:25875444 G>A,C,T), RS1000295741 (6:25855385 A>G), RS1000310957 (6:25856689 T>C), RS1000312930 (6:25875139 T>A,C), RS1000370861 (6:25863331 A>G), RS1000836770 (6:25868241 T>C), RS1000897723 (6:25856815 C>A,T), RS1001184476 (6:25857119 T>C), RS1001212968 (6:25846420 A>G,T), RS1001244066 (6:25846048 C>A), RS1001472061 (6:25852766 A>C,G), RS1001472444 (6:25871644 A>G), RS1001485953 (6:25869795 A>G), RS1001713741 (6:25851421 A>G)

Disease associations

OMIM: gene MIM:611034 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
uric acid concentration, serum, quantitative trait locus 4	Limited	Autosomal dominant

Mondo (1): (MONDO:0044277)

Orphanet (0):

HPO phenotypes

4 total (4 of 4 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001997	Gout
HP:0002149	Hyperuricemia
HP:0003581	Adult onset

GWAS associations

68 associations (top):

Study	Trait	p-value
GCST000242_1	Urate levels	4.000000e-29
GCST000433_1	Schizophrenia	1.000000e-08
GCST000504_9	Mean corpuscular hemoglobin	4.000000e-39
GCST001765_44	Red blood cell traits	5.000000e-67
GCST001791_28	Urate levels	7.000000e-70
GCST002087_9	Homocysteine levels	1.000000e-08
GCST002497_26	Blood pressure	2.000000e-06
GCST002829_11	Urate levels in overweight individuals	1.000000e-07
GCST003944_5	Hepcidin/ferritin ratio	3.000000e-14
GCST003944_6	Hepcidin/ferritin ratio	2.000000e-14
GCST004521_113	Autism spectrum disorder or schizophrenia	3.000000e-19
GCST004521_169	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_69	Autism spectrum disorder or schizophrenia	8.000000e-24
GCST004521_83	Autism spectrum disorder or schizophrenia	1.000000e-13
GCST006073_51	Tenofovir clearance in HIV infection	6.000000e-07
GCST006231_29	Mean arterial pressure	1.000000e-17
GCST007268_21	Diastolic blood pressure	6.000000e-11
GCST009733_101	Urinary metabolite levels in chronic kidney disease	4.000000e-11
GCST009733_116	Urinary metabolite levels in chronic kidney disease	1.000000e-39
GCST009733_133	Urinary metabolite levels in chronic kidney disease	1.000000e-32
GCST009733_136	Urinary metabolite levels in chronic kidney disease	4.000000e-14
GCST009733_18	Urinary metabolite levels in chronic kidney disease	2.000000e-20
GCST009733_187	Urinary metabolite levels in chronic kidney disease	1.000000e-13
GCST009733_194	Urinary metabolite levels in chronic kidney disease	6.000000e-13
GCST009733_196	Urinary metabolite levels in chronic kidney disease	2.000000e-11
GCST009733_199	Urinary metabolite levels in chronic kidney disease	3.000000e-13
GCST009733_20	Urinary metabolite levels in chronic kidney disease	1.000000e-43
GCST009733_208	Urinary metabolite levels in chronic kidney disease	6.000000e-12
GCST009733_229	Urinary metabolite levels in chronic kidney disease	5.000000e-46
GCST009733_230	Urinary metabolite levels in chronic kidney disease	1.000000e-22

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004578	homocysteine measurement
EFO:0006340	mean arterial pressure
EFO:0007901	hepcidin:ferritin ratio
EFO:0006336	diastolic blood pressure
EFO:0005116	urinary metabolite measurement
EFO:0008111	diet measurement
EFO:0004761	uric acid measurement
EFO:0004346	neuroimaging measurement
EFO:0004348	hematocrit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11966370	SLC17A3		0.00	0
rs34376145	SLC17A3		0.00	0
rs34902660	SLC17A3		0.00	0
rs56027330	SLC17A3		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Type I sodium-phosphate co-transporters

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression, decreases expression	2
propionaldehyde	decreases expression	1
bisphenol A	increases methylation	1
titanium dioxide	decreases expression	1
estrone sulfate	affects transport	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Bumetanide	affects transport	1
Cadmium	increases expression	1
Endosulfan	decreases expression	1
p-Aminohippuric Acid	affects transport	1
Phenobarbital	affects expression	1
Silicon Dioxide	decreases expression	1
Uric Acid	affects transport	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.