Aliases for SLC5A4 Gene

Aliases for SLC5A4 Gene

  • Solute Carrier Family 5 Member 4 2 3 4 5
  • Solute Carrier Family 5 (Low Affinity Glucose Cotransporter), Member 4 2 3
  • Solute Carrier Family 5 (Glucose Activated Ion Channel), Member 4 2 3
  • SAAT1 3 4
  • SGLT3 3 4
  • Solute Carrier Family 5 (Neutral Amino Acid Transporters, System A), Member 4 3
  • Low Affinity Sodium-Glucose Cotransporter 3
  • Sodium/Glucose Cotransporter 3 3
  • Na(+)/Glucose Cotransporter 3 3
  • Sodium Transporter 3
  • DJ90G24.4 3

External Ids for SLC5A4 Gene

Previous GeneCards Identifiers for SLC5A4 Gene

  • GC22M029310
  • GC22M030939
  • GC22M032614
  • GC22M015572

Summaries for SLC5A4 Gene

GeneCards Summary for SLC5A4 Gene

SLC5A4 (Solute Carrier Family 5 Member 4) is a Protein Coding gene. Diseases associated with SLC5A4 include Balanoposthitis and Diabetes Mellitus, Ketosis-Prone. Among its related pathways are Hexose transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and symporter activity. An important paralog of this gene is SLC5A1.

UniProtKB/Swiss-Prot Summary for SLC5A4 Gene

  • Has electrogenic activity in response to glucose, and may function as a glucose sensor (PubMed:13130073, PubMed:17110502, PubMed:20421923, PubMed:22766068). Mediates influx of sodium ions into the cell but does not transport sugars (PubMed:13130073, PubMed:22766068). Also potently activated by imino sugars such as deoxynojirimycin (DNJ) (PubMed:17110502, PubMed:20421923, PubMed:22766068).

Gene Wiki entry for SLC5A4 Gene

Additional gene information for SLC5A4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC5A4 Gene

Genomics for SLC5A4 Gene

GeneHancer (GH) Regulatory Elements for SLC5A4 Gene

Promoters and enhancers for SLC5A4 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
GH22J032357 Promoter 1 EPDnew Ensembl 521.3 -1.6 -1593 0.8 NFYB CTCF JUN POLR2A TBP ASH1L SLC5A4 RFPL3 lnc-RTCB-4
GH22J032254 Promoter/Enhancer 0.5 EPDnew ENCODE 500.2 +97.6 97644 1.1 SLC5A4 CPSF1P1 RFPL2 SLC5A4-AS1
GH22J031623 Promoter/Enhancer 2.5 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.7 +725.3 725318 8.6 ZBTB40 CTCF NRF1 POLR2G USF1 PHB2 ZNF639 ZIC2 POLR2A ZBTB10 PISD TUG1 SLC5A4 ENSG00000232218 SFI1 RNF185 PRR14L DUSP18 DEPDC5 MORC2
GH22J032050 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +301.2 301207 3.6 JUND FOS ZNF639 CLOCK TRIM28 RELA EP300 ATF2 BCL11A MYNN SLC5A4 BPIFC ENSG00000232218 ENSG00000241954 RFPL3S IGLVIVOR22-2 LOC339666 SLC5A1 RFPL3 lnc-YWHAH-6
GH22J032473 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.6 -122.6 -122614 4.8 HNRNPK CTCF SIN3A NRF1 POLR2G PHF8 JUND ZFX ZNF639 ZIC2 FBXO7 NONHSAG033755.2 BPIFC SLC5A4 RFPL3 C22orf42 RFPL2 piR-52478
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC5A4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC5A4

Top Transcription factor binding sites by QIAGEN in the SLC5A4 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • Hlf
  • p53
  • Pax-4a
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for SLC5A4 Gene

Genomic Locations for SLC5A4 Gene
chr22:32,218,421-32,353,008
(GRCh38/hg38)
Size:
134,588 bases
Orientation:
Minus strand
chr22:32,614,463-32,651,328
(GRCh37/hg19)
Size:
36,866 bases
Orientation:
Minus strand

Genomic View for SLC5A4 Gene

Genes around SLC5A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A4 Gene

Proteins for SLC5A4 Gene

  • Protein details for SLC5A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY91-SC5A4_HUMAN
    Recommended name:
    Solute carrier family 5 member 4
    Protein Accession:
    Q9NY91
    Secondary Accessions:
    • O15279

    Protein attributes for SLC5A4 Gene

    Size:
    659 amino acids
    Molecular mass:
    72456 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC5A4 Gene

Post-translational modifications for SLC5A4 Gene

  • Glycosylation at Asn248
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC5A4 Gene

No data available for DME Specific Peptides for SLC5A4 Gene

Domains & Families for SLC5A4 Gene

Gene Families for SLC5A4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC5A4 Gene

Blocks:
  • Na+/solute symporter
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC5A4 Gene

GenScript: Design optimal peptide antigens:
  • Sodium transporter (C7EWH7_HUMAN)
  • Solute carrier family 5 member 4 (SC5A4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NY91

UniProtKB/Swiss-Prot:

SC5A4_HUMAN :
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
Family:
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
genes like me logo Genes that share domains with SLC5A4: view

Function for SLC5A4 Gene

Molecular function for SLC5A4 Gene

UniProtKB/Swiss-Prot Function:
Has electrogenic activity in response to glucose, and may function as a glucose sensor (PubMed:13130073, PubMed:17110502, PubMed:20421923, PubMed:22766068). Mediates influx of sodium ions into the cell but does not transport sugars (PubMed:13130073, PubMed:22766068). Also potently activated by imino sugars such as deoxynojirimycin (DNJ) (PubMed:17110502, PubMed:20421923, PubMed:22766068).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phlorizin.
GENATLAS Biochemistry:
solute carrier family 5,neutral amino acid transporters,system A,member 4,expressed in kidney,small intestine,spleen,liver,muscle

Phenotypes From GWAS Catalog for SLC5A4 Gene

Gene Ontology (GO) - Molecular Function for SLC5A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005412 glucose:sodium symporter activity IBA 21873635
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC5A4: view
genes like me logo Genes that share phenotypes with SLC5A4: view

Animal Model Products

CRISPR Products

miRNA for SLC5A4 Gene

miRTarBase miRNAs that target SLC5A4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC5A4 Gene

Localization for SLC5A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A4 Gene

Cell membrane; Multi-pass membrane protein.

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 SLC5A4 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC5A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with SLC5A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC5A4 Gene

Pathways & Interactions for SLC5A4 Gene

genes like me logo Genes that share pathways with SLC5A4: view

Pathways by source for SLC5A4 Gene

1 BioSystems pathway for SLC5A4 Gene

Interacting Proteins for SLC5A4 Gene

;

Gene Ontology (GO) - Biological Process for SLC5A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IBA 21873635
GO:0055085 transmembrane transport IEA --
GO:1904659 glucose transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC5A4: view

No data available for SIGNOR curated interactions for SLC5A4 Gene

Drugs & Compounds for SLC5A4 Gene

(7) Drugs for SLC5A4 Gene - From: ClinicalTrials, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Canagliflozin Approved Pharma Inhibition, Inhibitor SGLT2 inhibitor,potent and selective 132
Glufosfamide Investigational Pharma inhibitor 0
Hypoglycemic Agents Pharma 7644
Sodium-Glucose Transporter 2 Inhibitors Pharma 707
Empagliflozin (BI 10773) Pharma SGLT-2 inhibitor for oral treatment of type 2 diabetes 0

(3) Additional Compounds for SLC5A4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5

(2) ApexBio Compounds for SLC5A4 Gene

Compound Action Cas Number
Empagliflozin (BI 10773) SGLT-2 inhibitor for oral treatment of type 2 diabetes 864070-44-0
PF-04971729 SGLT inhibitor 1210344-57-2
genes like me logo Genes that share compounds with SLC5A4: view

Drug Products

Transcripts for SLC5A4 Gene

mRNA/cDNA for SLC5A4 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 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 SLC5A4

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A4 Gene

No ASD Table

Relevant External Links for SLC5A4 Gene

GeneLoc Exon Structure for
SLC5A4

Expression for SLC5A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC5A4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC5A4

SOURCE GeneReport for Unigene cluster for SLC5A4 Gene:

Hs.130101

mRNA Expression by UniProt/SwissProt for SLC5A4 Gene:

Q9NY91-SC5A4_HUMAN
Tissue specificity: Expressed in skeletal muscle, where it may localize to the neuromuscular junction (at protein level) (PubMed:13130073). Expressed in small intestine where it may localize to cholinergic neurons of the submucosal plexus and myenteric plexus (at protein level) (PubMed:13130073). Detected in kidney (at protein level) (PubMed:22766068).

Evidence on tissue expression from TISSUES for SLC5A4 Gene

  • Intestine(4.4)
  • Nervous system(4.2)
  • Kidney(3.2)
  • Blood(2.5)
  • Urine(2.3)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with SLC5A4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 SLC5A4 Gene

Orthologs for SLC5A4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC5A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC5A4 31 30
  • 99.09 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100685907 30
  • 85.03 (n)
SLC5A4 31
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC527441 30
  • 84.72 (n)
SLC5A4 31
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc5a4 30
  • 81.08 (n)
mouse
(Mus musculus)
Mammalia Slc5a4a 31
  • 79 (a)
OneToMany
Slc5a4b 31
  • 77 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 71 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A4 31
  • 65 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.349 31
  • 53 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
-- 31
  • 50 (a)
ManyToMany
Species where no ortholog for SLC5A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SLC5A4 Gene

ENSEMBL:
Gene Tree for SLC5A4 (if available)
TreeFam:
Gene Tree for SLC5A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC5A4: view image

Paralogs for SLC5A4 Gene

(6) SIMAP similar genes for SLC5A4 Gene using alignment to 2 proteins:

  • SC5A4_HUMAN
  • C7EWH7_HUMAN
genes like me logo Genes that share paralogs with SLC5A4: view

Variants for SLC5A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC5A4 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs16990065 - p.Thr4Met
rs2235171 - p.Ala46Thr

Additional dbSNP identifiers (rs#s) for SLC5A4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC5A4 Gene

Variant ID Type Subtype PubMed ID
esv2422247 CNV duplication 17116639
esv2672031 CNV deletion 23128226
esv3575476 CNV gain 25503493
esv3647603 CNV loss 21293372
esv3893474 CNV gain 25118596
esv3893475 CNV gain 25118596
nsv3597 CNV deletion 18451855
nsv459874 CNV gain 19166990
nsv588895 CNV gain 21841781
nsv834178 CNV loss 17160897

Variation tolerance for SLC5A4 Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.88; 74.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC5A4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC5A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A4 Gene

Disorders for SLC5A4 Gene

MalaCards: The human disease database

(19) MalaCards diseases for SLC5A4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
balanoposthitis
diabetes mellitus, ketosis-prone
  • diabetes mellitus, insulin-dependent
balanitis
acute cystitis
  • urinary tract infection
renal glucosuria
  • glys
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC5A4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC5A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC5A4 Gene

Publications for SLC5A4 Gene

  1. A single amino acid change converts the sugar sensor SGLT3 into a sugar transporter. (PMID: 20421923) Bianchi L … Díez-Sampedro A (PloS one 2010) 3 4 23 54
  2. A novel SGLT is expressed in the human kidney. (PMID: 22766068) Kothinti RK … Tabatabai NM (European journal of pharmacology 2012) 3 4 54
  3. Imino sugars are potent agonists of the human glucose sensor SGLT3. (PMID: 17110502) Voss AA … Wright EM (Molecular pharmacology 2007) 3 4 54
  4. Neuroticism mediates the association of the serotonin transporter gene with lifetime major depression. (PMID: 16319503) Munafò MR … Johnstone EC (Neuropsychobiology 2006) 3 41 54
  5. A glucose sensor hiding in a family of transporters. (PMID: 13130073) Diez-Sampedro A … Koepsell H (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 54

Products for SLC5A4 Gene

Sources for SLC5A4 Gene