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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10786
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 17 member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC17A3
Synonyms (NCBI Gene) Gene synonyms aliases	GOUT4, NPT4, UAQTL4
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p22.2
Summary Summary 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

Show/Hide all(1)

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

Show/Hide all(1)

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

Show/Hide all(43)

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

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

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

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Breast cancer	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bovine Respiratory Disease Complex	Associate	31402603
Cerebral Infarction	Associate	24846872
Diabetes Mellitus Type 1	Associate	37696853
Diabetes Mellitus Type 2	Associate	31402603
Disease	Associate	32014011
Dyslipidemias	Associate	29879492, 31402603
Gout	Associate	18834626, 22541845, 27511497
Hypertension	Associate	31402603
Hyperuricemia	Associate	31402603
Hypoalphalipoproteinemias	Associate	29879492
Obesity	Associate	31402603

SLC17A3 (solute carrier family 17 member 3)