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Aliases for SLC5A2 Gene

Aliases for SLC5A2 Gene

  • Solute Carrier Family 5 Member 2 2 3 4 5
  • Solute Carrier Family 5 (Sodium/Glucose Cotransporter), Member 2 2 3
  • Low Affinity Sodium-Glucose Cotransporter 3 4
  • Na(+)/Glucose Cotransporter 2 3 4
  • SGLT2 3 4
  • Solute Carrier Family 5 (Sodium/Glucose Transporter), Member 2 3
  • Sodium/Glucose Cotransporter 2 3

External Ids for SLC5A2 Gene

Previous HGNC Symbols for SLC5A2 Gene

  • SGLT2

Previous GeneCards Identifiers for SLC5A2 Gene

  • GC16P030575
  • GC16P031991
  • GC16P031491
  • GC16P031530
  • GC16P031403
  • GC16P029054

Summaries for SLC5A2 Gene

Entrez Gene Summary for SLC5A2 Gene

  • This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]

GeneCards Summary for SLC5A2 Gene

SLC5A2 (Solute Carrier Family 5 Member 2) is a Protein Coding gene. Diseases associated with SLC5A2 include Renal Glucosuria and Aminoaciduria. Among its related pathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and low-affinity glucose:sodium symporter activity. An important paralog of this gene is SLC5A1.

UniProtKB/Swiss-Prot for SLC5A2 Gene

  • Sodium-dependent glucose transporter. Has a Na(+) to glucose coupling ratio of 1:1.

  • Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules.

Gene Wiki entry for SLC5A2 Gene

Additional gene information for SLC5A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC5A2 Gene

Genomics for SLC5A2 Gene

Regulatory Elements for SLC5A2 Gene

Enhancers for SLC5A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H031483 1.1 Ensembl ENCODE 0.7 +2.3 2277 1 ELF3 MLX ZSCAN4 ARID4B DMAP1 RAD21 RARA MIXL1 EGR2 THAP11 ENSG00000260740 ZNF843 ITGAD SLC5A2
GH16H031475 1.3 Ensembl ENCODE 0.4 -5.3 -5298 2 PKNOX1 FOXA2 ARID4B YY1 TCF12 SLC30A9 ZNF143 ATF7 SP5 MXD4 ENSG00000260740 ENSG00000280132 SLC5A2
GH16H031480 0.7 ENCODE 0.7 -1.4 -1411 1 HDAC1 PKNOX1 L3MBTL2 ETV1 BHLHE40 MNT NR2F2 NFIC CTBP1 POLR2A ENSG00000260740 SLC5A2 ENSG00000280132
GH16H031470 0.9 ENCODE 0.4 -9.6 -9584 4 HDAC1 HDGF NFIB RAD21 RARA ZNF121 GLIS2 GATA2 ZNF366 SCRT2 ENSG00000260740 HERC2P4 ENSG00000280132 SLC5A2
GH16H031487 0.6 ENCODE 0.4 +5.3 5268 1 E2F1 KLF1 POLR2A KLF9 ZBTB33 NR3C1 KLF8 EZH2 ENSG00000260740 SLC5A2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC5A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC5A2 Gene

Chromosome:
16
Start:
31,482,535 bp from pter
End:
31,490,860 bp from pter
Size:
8,326 bases
Orientation:
Plus strand

Genomic View for SLC5A2 Gene

Genes around SLC5A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A2 Gene

Proteins for SLC5A2 Gene

  • Protein details for SLC5A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31639-SC5A2_HUMAN
    Recommended name:
    Sodium/glucose cotransporter 2
    Protein Accession:
    P31639
    Secondary Accessions:
    • A2RRD2

    Protein attributes for SLC5A2 Gene

    Size:
    672 amino acids
    Molecular mass:
    72897 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC5A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC5A2 Gene

Post-translational modifications for SLC5A2 Gene

  • Glycosylation at Asn250 and Asn399
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC5A2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SLC5A2 (SLC5A2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC5A2

No data available for DME Specific Peptides for SLC5A2 Gene

Domains & Families for SLC5A2 Gene

Gene Families for SLC5A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC5A2 Gene

Suggested Antigen Peptide Sequences for SLC5A2 Gene

Graphical View of Domain Structure for InterPro Entry

P31639

UniProtKB/Swiss-Prot:

SC5A2_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 SLC5A2: view

Function for SLC5A2 Gene

Molecular function for SLC5A2 Gene

GENATLAS Biochemistry:
solute carrier family 5 (sodium/glucose cotransporter),member 2
UniProtKB/Swiss-Prot Function:
Sodium-dependent glucose transporter. Has a Na(+) to glucose coupling ratio of 1:1.
UniProtKB/Swiss-Prot Function:
Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules.

Gene Ontology (GO) - Molecular Function for SLC5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005362 low-affinity glucose:sodium symporter activity TAS 8244402
GO:0005412 glucose:sodium symporter activity TAS --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC5A2: view
genes like me logo Genes that share phenotypes with SLC5A2: view

Human Phenotype Ontology for SLC5A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC5A2 Gene

MGI Knock Outs for SLC5A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC5A2

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC5A2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SLC5A2 Gene

Localization for SLC5A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A2 Gene

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 SLC5A2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 3

Gene Ontology (GO) - Cellular Components for SLC5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 8244402
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SLC5A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC5A2 Gene

Pathways & Interactions for SLC5A2 Gene

genes like me logo Genes that share pathways with SLC5A2: view

Pathways by source for SLC5A2 Gene

1 Cell Signaling Technology pathway for SLC5A2 Gene
1 BioSystems pathway for SLC5A2 Gene

Interacting Proteins for SLC5A2 Gene

Gene Ontology (GO) - Biological Process for SLC5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 8244402
GO:0006810 transport TAS 8244402
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0008643 carbohydrate transport IEA --
genes like me logo Genes that share ontologies with SLC5A2: view

No data available for SIGNOR curated interactions for SLC5A2 Gene

Drugs & Compounds for SLC5A2 Gene

(19) Drugs for SLC5A2 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Canagliflozin Approved Pharma Inhibition, Inhibitor, blocker, Target, inhibitor SGLT2 inhibitor,potent and selective 113
Dapagliflozin Approved Pharma Inhibition, Inhibitor, blocker, Target, antagonist SGLT2 inhibitor,potent and selective 0
Empagliflozin Approved Pharma Inhibition, Inhibitor, Target, antagonist, inhibitor 146
Gamma Hydroxybutyric Acid Approved, Illicit Pharma agonist 0
Ipragliflozin Investigational Pharma SGLT2 inhibitor 0

(2) Additional Compounds for SLC5A2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(6) ApexBio Compounds for SLC5A2 Gene

Compound Action Cas Number
Canagliflozin SGLT2 inhibitor,potent and selective 842133-18-0
Dapagliflozin SGLT2 inhibitor,potent and selective 461432-26-8
Empagliflozin (BI 10773) SGLT-2 inhibitor for oral treatment of type 2 diabetes 864070-44-0
Ipragliflozin SGLT2 inhibitor 761423-87-4
LX-4211 SGLT1/SGLT2 inhibitor 1018899-04-1
PF-04971729 SGLT inhibitor 1210344-57-2
genes like me logo Genes that share compounds with SLC5A2: view

Drug Products

Transcripts for SLC5A2 Gene

Unigene Clusters for SLC5A2 Gene

Solute carrier family 5 (sodium/glucose cotransporter), member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC5A2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c
SP1: - - - -
SP2: - -
SP3: -
SP4: - -
SP5:
SP6: - -

Relevant External Links for SLC5A2 Gene

GeneLoc Exon Structure for
SLC5A2
ECgene alternative splicing isoforms for
SLC5A2

Expression for SLC5A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC5A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC5A2 Gene

This gene is overexpressed in Kidney - Cortex (x36.9) and Testis (x8.1).

Protein differential expression in normal tissues from HIPED for SLC5A2 Gene

This gene is overexpressed in Urine (58.3) and Kidney (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC5A2 Gene



Protein tissue co-expression partners for SLC5A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC5A2 Gene:

SLC5A2

SOURCE GeneReport for Unigene cluster for SLC5A2 Gene:

Hs.709195

Evidence on tissue expression from TISSUES for SLC5A2 Gene

  • Kidney(4.7)
  • Blood(2.4)
  • Urine(2.4)
  • Liver(2.3)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC5A2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • urinary
Organs:
Head and neck:
  • brain
  • head
  • pituitary gland
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with SLC5A2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SLC5A2 Gene

Orthologs for SLC5A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC5A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC5A2 33 34
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia SLC5A2 33 34
  • 88.69 (n)
dog
(Canis familiaris)
Mammalia SLC5A2 33 34
  • 87.75 (n)
rat
(Rattus norvegicus)
Mammalia Slc5a2 33
  • 85 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC5A2 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc5a2 33 16 34
  • 84.75 (n)
lizard
(Anolis carolinensis)
Reptilia SLC5A2 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a2 33
  • 68.96 (n)
Str.4321 33
zebrafish
(Danio rerio)
Actinopterygii slc5a2 33 34
  • 63.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.349 34
  • 52 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
Species where no ortholog for SLC5A2 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC5A2 Gene

ENSEMBL:
Gene Tree for SLC5A2 (if available)
TreeFam:
Gene Tree for SLC5A2 (if available)

Paralogs for SLC5A2 Gene

(6) SIMAP similar genes for SLC5A2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC5A2: view

Variants for SLC5A2 Gene

Sequence variations from dbSNP and Humsavar for SLC5A2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs61742739 Pathogenic, Renal glucosuria (GLYS) [MIM:233100] 31,490,477(+) GGTCA(A/G)CCTCA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs121918621 Pathogenic 31,488,919(+) GCCTG(A/G)CTTCC intron-variant, reference, stop-gained
rs267607067 Pathogenic 31,486,201(+) CATCC(-/A)GCAGG nc-transcript-variant, reference, frameshift-variant
rs387906682 Pathogenic 31,489,034(+) TGCCG(C/G)GCGTT intron-variant, downstream-variant-500B, reference, missense
rs398122801 Pathogenic 31,484,657(+) TCCCC(A/C/G/T)GCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC5A2 Gene

Variant ID Type Subtype PubMed ID
esv3570465 CNV gain 25503493
nsv1060240 CNV gain 25217958
nsv482193 CNV gain 20164927
nsv833194 CNV loss 17160897

Variation tolerance for SLC5A2 Gene

Residual Variation Intolerance Score: 3.86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC5A2 Gene

Human Gene Mutation Database (HGMD)
SLC5A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC5A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A2 Gene

Disorders for SLC5A2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLC5A2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
renal glucosuria
  • renal glycosuria
aminoaciduria
diabetes mellitus, ketosis-prone
  • diabetic ketoacidosis
hyperglycemia
balanitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC5A2_HUMAN
  • Renal glucosuria (GLYS) [MIM:233100]: A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction. {ECO:0000269 PubMed:14614622}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SLC5A2 Gene

glycosuria,renal

Relevant External Links for SLC5A2

Human Genome Epidemiology (HuGE) Navigator
SLC5A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC5A2
genes like me logo Genes that share disorders with SLC5A2: view

Publications for SLC5A2 Gene

  1. Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. (PMID: 14614622) Calado J … Rueff J (Human genetics 2004) 3 4 22 60
  2. Localization of the Na+/glucose cotransporter gene SGLT2 to human chromosome 16 close to the centromere. (PMID: 8244402) Wells RG … Hediger MA (Genomics 1993) 2 3 22 60
  3. Cloning of a human kidney cDNA with similarity to the sodium-glucose cotransporter. (PMID: 1415574) Wells RG … Hediger MA (The American journal of physiology 1992) 3 4 22 60
  4. Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. (PMID: 18622023) Calado J … Santer R (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008) 3 22 60
  5. Thioglycosides as inhibitors of hSGLT1 and hSGLT2: potential therapeutic agents for the control of hyperglycemia in diabetes. (PMID: 17505558) Castaneda F … Kinne RK (International journal of medical sciences 2007) 3 22 60

Products for SLC5A2 Gene

Sources for SLC5A2 Gene

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