Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10786
Gene name	Solute carrier family 17 member 3
Gene symbol	SLC17A3
Synonyms (NCBI Gene)	GOUT4NPT4UAQTL4
Chromosome	6
Chromosome location	6p22.2
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs387907257	T>G	Risk-factor	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017850	hsa-miR-335-5p	Microarray	18185580

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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:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	15505377
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IDA	20810651
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	ISS
GO:0006817	Process	Phosphate ion transport	ISS
GO:0008308	Function	Voltage-gated monoatomic anion channel activity	IBA
GO:0008308	Function	Voltage-gated monoatomic anion channel activity	IDA	20810651
GO:0008514	Function	Organic anion transmembrane transporter activity	IDA	20810651
GO:0015143	Function	Urate transmembrane transporter activity	IBA
GO:0015143	Function	Urate transmembrane transporter activity	IDA	20810651
GO:0015143	Function	Urate transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IEA
GO:0015562	Function	Efflux transmembrane transporter activity	IBA
GO:0015562	Function	Efflux transmembrane transporter activity	IDA	20810651
GO:0015711	Process	Organic anion transport	IDA	20810651
GO:0015747	Process	Urate transport	IBA
GO:0015747	Process	Urate transport	IDA	20810651
GO:0015760	Process	Glucose-6-phosphate transport	TAS	15505377
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	20810651
GO:0019534	Function	Toxin transmembrane transporter activity	IBA
GO:0019534	Function	Toxin transmembrane transporter activity	IDA	20810651
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IBA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	20810651
GO:0046415	Process	Urate metabolic process	IMP	18834626, 20053405, 20162743
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15505377
GO:0055085	Process	Transmembrane transport	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IDA	20810651

MIM	HGNC	e!Ensembl
611034	10931	ENSG00000124564

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

Tissue specificity

TISSUE SPECIFICITY: Expressed in the liver and kidney (PubMed:20810651, PubMed:9149941). 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 l

Sequence

MATKTELSPTARESKNAQDMQVDETLIPRKVPSLCSARYGIALVLHFCNFTTIAQNVIMN
ITMVAMVNSTSPQSQLNDSSEVLPVDSFGGLSKAPKSLPAKSSILGGQFAIWEKWGPPQE
RSRLCSIALSGMLLGCFTAILIGGFISETLGWPFVFYIFGGVGCVCCLLWFVVIYDDPVS
YPWISTSEKEYIISSLKQQVGSSKQPLPIKAMLRSLPIWSICLGCFSHQWLVSTMVVYIP
TYISSVYHVNIRDNGLLSALPFIVAWVIGMVGGYLADFLLTKKFRLITVRKIATILGSLP
SSALIVSLPYLNSGYITATALLTLSCGLSTLCQSGIYINVLDIAPRYSSFLMGASRGFSS
IAPVIVPTVSGFLLSQDPEFGWRNVFFLLFAVNLLGLLFYLIFGEADVQEWAKERKLTRL

Sequence length

420

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, GOUTY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC17A3-related disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uric acid concentration, serum, quantitative trait locus 4	association; risk factor	ClinVar CTD, ClinVar, Orphanet CTD, ClinVar, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	18834626, 20884846, 21768215, 23263486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	24846872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21971053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37696853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31402603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31402603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	29879492, 31402603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31402603		★★★★★ ★☆☆☆☆ Found in Text Mining only
GLYCOGEN STORAGE DISEASE Ic	Glycogen Storage Disease	BEFREE	15505377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	18834626, 20884846, 21768215, 23263486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	Pubtator	18834626, 22541845, 27511497	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	31402603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	27614971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	31402603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	29879492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	24846872, 27772792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31402603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASDB_DG	19571809		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SLC17A3 (solute carrier family 17 member 3)