Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical p... See more...

Aliases for SLC17A4 Gene

Aliases for SLC17A4 Gene

  • Solute Carrier Family 17 Member 4 2 3 4 5
  • Solute Carrier Family 17 (Sodium Phosphate), Member 4 2 3
  • Probable Small Intestine Urate Exporter 3 4
  • Putative Small Intestine Sodium-Dependent Phosphate Transport Protein 3
  • Solute Carrier Family 17, Member 4 2
  • Na/PO4 Cotransporter 3
  • KAIA2138 3
  • KIAA2138 2
  • SLC17A4 5

External Ids for SLC17A4 Gene

Previous GeneCards Identifiers for SLC17A4 Gene

  • GC06P025812
  • GC06P025862
  • GC06P025697
  • GC06P025766
  • GC06P025817
  • GC06P025824
  • GC06P025816
  • GC06P025838
  • GC06P025771
  • GC06P025776
  • GC06P025781
  • GC06P025789
  • GC06P025794
  • GC06P025800
  • GC06P025805
  • GC06P025810

Summaries for SLC17A4 Gene

Entrez Gene Summary for SLC17A4 Gene

  • Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]

GeneCards Summary for SLC17A4 Gene

SLC17A4 (Solute Carrier Family 17 Member 4) is a Protein Coding gene. Diseases associated with SLC17A4 include Renal Artery Atheroma. Gene Ontology (GO) annotations related to this gene include sodium:phosphate symporter activity. An important paralog of this gene is SLC17A2.

UniProtKB/Swiss-Prot Summary for SLC17A4 Gene

  • Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions. May be involved in urate extrusion from the intestinal duct. May recognize hydrophilic anionic drugs such as aspirin, salicylate, and ibuprofen as substrates. Able to actively transport inorganic phosphate into cells via Na(+) cotransport (in vitro).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC17A4 Gene

Genomics for SLC17A4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC17A4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J025754 Promoter/Enhancer 0.9 EPDnew ENCODE 600.7 +0.6 574 1.8 ZSCAN4 JUND FOSL2 HNF4A REST YY1 TAF1 ATF3 SP1 SLC17A4 ENSG00000272462 SLC17A3 lnc-SLC17A4-1 RF00017-5376 SLC17A1
GH06J025753 Promoter/Enhancer 0.8 EPDnew Ensembl 600.7 -1.2 -1172 0.6 RXRB RARA NR2F6 NR2F1 HLF SLC17A4 ENSG00000272462 SLC17A3 piR-30350-052 H2BC1 RF00017-5376 SLC17A1
GH06J025958 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.5 +207.2 207249 6.5 GATAD2A PRDM10 REST ZNF629 IKZF1 KDM1A ZNF692 POLR2A BACH1 JUND TRIM38 ENSG00000272462 ZNF322 GUSBP2 BTN3A2 SLC17A4 piR-49097-085 SLC17A2 RF00017-5376
GH06J025641 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.7 -112.3 -112272 1.6 GATAD2A REST RCOR2 RBFOX2 IRF2 CEBPA KMT2B SOX13 TCF7 SP1 ENSG00000286933 SCGN SLC17A4 CARMIL1 ENSG00000272462
GH06J025720 Enhancer 0.7 Ensembl 15.4 -34.0 -33970 0.6 CTCF PRDM10 ZNF143 REST RAD21 TRIM22 CEBPA ATF7 EGR1 CTBP1 ENSG00000272462 SLC17A4 SLC17A1 H2AC1 piR-52370 piR-57135-034 RF00017-5376 SCGN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC17A4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC17A4

Top Transcription factor binding sites by QIAGEN in the SLC17A4 gene promoter:
  • AP-1
  • ATF-2
  • CUTL1
  • HNF-1
  • HNF-1A
  • Pax-3
  • Pax-4a
  • POU2F1
  • POU2F1a
  • TGIF

Genomic Locations for SLC17A4 Gene

Genomic Locations for SLC17A4 Gene
chr6:25,754,673-25,781,199
(GRCh38/hg38)
Size:
26,527 bases
Orientation:
Plus strand
chr6:25,754,927-25,781,419
(GRCh37/hg19)
Size:
26,493 bases
Orientation:
Plus strand

Genomic View for SLC17A4 Gene

Genes around SLC17A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC17A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC17A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC17A4 Gene

Proteins for SLC17A4 Gene

  • Protein details for SLC17A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2C5-S17A4_HUMAN
    Recommended name:
    Probable small intestine urate exporter
    Protein Accession:
    Q9Y2C5
    Secondary Accessions:
    • B4DDV9
    • E7EPE8
    • E7EU17
    • Q32MB7
    • Q32MB8

    Protein attributes for SLC17A4 Gene

    Size:
    497 amino acids
    Molecular mass:
    54055 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC17A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC17A4 Gene

Post-translational modifications for SLC17A4 Gene

  • Glycosylation at Asn56, Asn66, Asn75, Asn90, and Asn47
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC17A4 Gene

Domains & Families for SLC17A4 Gene

Gene Families for SLC17A4 Gene

Protein Domains for SLC17A4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC17A4 Gene

GenScript: Design optimal peptide antigens:
  • SLC17A4 protein (Q32MB8_HUMAN)
  • Solute carrier family 17 member 4 (S17A4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2C5

UniProtKB/Swiss-Prot:

S17A4_HUMAN :
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
Family:
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
genes like me logo Genes that share domains with SLC17A4: view

Function for SLC17A4 Gene

Molecular function for SLC17A4 Gene

UniProtKB/Swiss-Prot Function:
Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions. May be involved in urate extrusion from the intestinal duct. May recognize hydrophilic anionic drugs such as aspirin, salicylate, and ibuprofen as substrates. Able to actively transport inorganic phosphate into cells via Na(+) cotransport (in vitro).
GENATLAS Biochemistry:
solute carrier family(sodium/phosphate cotransport),member 4

Phenotypes From GWAS Catalog for SLC17A4 Gene

Gene Ontology (GO) - Molecular Function for SLC17A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005436 sodium:phosphate symporter activity TAS 10319585
GO:0015136 sialic acid transmembrane transporter activity IBA 21873635
GO:0015293 symporter activity IEA --
GO:0022857 transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC17A4: view
genes like me logo Genes that share phenotypes with SLC17A4: view

Animal Model Products

CRISPR Products

miRNA for SLC17A4 Gene

miRTarBase miRNAs that target SLC17A4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC17A4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC17A4 Gene

Localization for SLC17A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC17A4 Gene

Apical cell membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein. Note=Apical in the intestinal brush border.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC17A4 gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC17A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IBA 21873635
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 10319585
GO:0016020 membrane TAS 10319585
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with SLC17A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC17A4 Gene

Pathways & Interactions for SLC17A4 Gene

PathCards logo

SuperPathways for SLC17A4 Gene

No Data Available

Interacting Proteins for SLC17A4 Gene

Gene Ontology (GO) - Biological Process for SLC17A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006796 phosphate-containing compound metabolic process TAS 10319585
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport TAS 10319585
GO:0006820 anion transport IBA 21873635
GO:0015739 sialic acid transport IBA 21873635
genes like me logo Genes that share ontologies with SLC17A4: view

No data available for Pathways by source and SIGNOR curated interactions for SLC17A4 Gene

Drugs & Compounds for SLC17A4 Gene

(1) Additional Compounds for SLC17A4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC17A4: view

Transcripts for SLC17A4 Gene

mRNA/cDNA for SLC17A4 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC17A4

Alternative Splicing Database (ASD) splice patterns (SP) for SLC17A4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b
SP1: -
SP2: - -
SP3:

Relevant External Links for SLC17A4 Gene

GeneLoc Exon Structure for
SLC17A4

Expression for SLC17A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC17A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC17A4 Gene

This gene is overexpressed in Liver (x18.2), Colon - Transverse (x12.3), Pancreas (x11.9), and Small Intestine - Terminal Ileum (x6.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC17A4

SOURCE GeneReport for Unigene cluster for SLC17A4 Gene:

Hs.282931

mRNA Expression by UniProt/SwissProt for SLC17A4 Gene:

Q9Y2C5-S17A4_HUMAN
Tissue specificity: Abundantly expressed in pancreas, liver, colon and small intestine, less in kidney. Not detected in the adrenal glands, brain, placenta, heart, testis, skeletal muscle, and lungs.

Evidence on tissue expression from TISSUES for SLC17A4 Gene

  • Intestine(4.4)
  • Liver(2.7)
  • Kidney(2.5)
genes like me logo Genes that share expression patterns with SLC17A4: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC17A4 Gene

Orthologs for SLC17A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC17A4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC17A4 30 31
  • 99.53 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc17a4 30 17 31
  • 82.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc17a4 30
  • 82.49 (n)
Dog
(Canis familiaris)
Mammalia SLC17A4 30 31
  • 80.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC17A4 30 31
  • 80.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 53 (a)
ManyToMany
-- 31
  • 45 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 47 (a)
ManyToMany
-- 31
  • 43 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii CU929219.1 31
  • 36 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG8791 32
  • 31 (a)
CG2003 32
  • 29 (a)
CG3649 32
  • 29 (a)
CG7881 32
  • 27 (a)
CG9825 32
  • 27 (a)
Worm
(Caenorhabditis elegans)
Secernentea F21F8.11 32
  • 26 (a)
T09B9.2 32
  • 25 (a)
ZK682.2 32
  • 25 (a)
Species where no ortholog for SLC17A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for SLC17A4 Gene

ENSEMBL:
Gene Tree for SLC17A4 (if available)
TreeFam:
Gene Tree for SLC17A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC17A4: view image

Paralogs for SLC17A4 Gene

(7) SIMAP similar genes for SLC17A4 Gene using alignment to 4 proteins:

  • S17A4_HUMAN
  • E7EPE8_HUMAN
  • E7EU17_HUMAN
  • Q32MB8_HUMAN
genes like me logo Genes that share paralogs with SLC17A4: view

Variants for SLC17A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC17A4 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs11754288 - p.Ala372Thr

Additional dbSNP identifiers (rs#s) for SLC17A4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC17A4 Gene

Variant ID Type Subtype PubMed ID
nsv1117610 CNV deletion 24896259
nsv477888 CNV novel sequence insertion 20440878

Variation tolerance for SLC17A4 Gene

Residual Variation Intolerance Score: 67.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.95; 79.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC17A4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC17A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC17A4 Gene

Disorders for SLC17A4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC17A4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
renal artery atheroma
  • atherosclerosis of renal artery
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC17A4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC17A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC17A4 Gene

Publications for SLC17A4 Gene

  1. Isolation and chromosomal mapping of a novel human gene showing homology to Na+/PO4 cotransporter. (PMID: 10319585) Shibui A … Sugano S (Journal of human genetics 1999) 2 3 4
  2. A Na+-phosphate cotransporter homologue (SLC17A4 protein) is an intestinal organic anion exporter. (PMID: 22460716) Togawa N … Moriyama Y (American journal of physiology. Cell physiology 2012) 3 4
  3. Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. (PMID: 21943158) Middelberg RP … Whitfield JB (BMC medical genetics 2011) 3 41
  4. Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. (PMID: 21909108) Bis JC … CARDIoGRAM Consortium (Nature genetics 2011) 3 41
  5. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. (PMID: 30367059) Teumer A … Medici M (Nature communications 2018) 3

Products for SLC17A4 Gene

Sources for SLC17A4 Gene