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SLC5A2 solute carrier family 5 member 2 [ Homo sapiens (human) ]

Gene ID: 6524, updated on 31-Mar-2024

Summary

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Official Symbol
SLC5A2provided by HGNC
Official Full Name
solute carrier family 5 member 2provided by HGNC
Primary source
HGNC:HGNC:11037
See related
Ensembl:ENSG00000140675 MIM:182381; AllianceGenome:HGNC:11037
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SGLT2
Summary
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]
Expression
Broad expression in kidney (RPKM 31.7), ovary (RPKM 7.6) and 25 other tissues See more
Orthologs
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Genomic context

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See SLC5A2 in Genome Data Viewer
Location:
16p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31483123..31490769)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31870510..31878162)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31494444..31502090)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31469952-31470492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7419 Neighboring gene armadillo repeat containing 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31483812-31484352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31486867-31487599 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31487600-31488331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31488332-31489064 Neighboring gene transforming growth factor beta 1 induced transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31500209-31500868 Neighboring gene RUS family member 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31518698-31519413 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31519414-31520128 Neighboring gene RUSF1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31527663-31528163 Neighboring gene alpha hemoglobin stabilizing protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Sodium-glucose cotransporter-2 inhibitors and kidney outcomes in real-world type 2 diabetes populations: A systematic review and meta-analysis of observational studies. Forbes AK, et al. Diabetes Obes Metab, 2023 Aug. PMID 37202870
  2. Associations of SGLT2 genetic polymorphisms with salt sensitivity, blood pressure changes and hypertension incidence in Chinese adults. Jia H, et al. Hypertens Res, 2023 Jul. PMID 37160967
  3. SGLT2 breast expression could affect the cardiovascular performance in pre-menopausal women with fatty vs. non fatty breast via over-inflammation and sirtuins' down regulation. Sardu C, et al. Eur J Intern Med, 2023 Jul. PMID 37062642
  4. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer susceptibility: an updated meta-analysis. Wang Y, et al. Biosci Rep, 2023 Apr 26. PMID 36896928, Free PMC Article
  5. Hepatic expression of sodium-glucose cotransporter 2 (SGLT2) in patients with chronic liver disease. Nakano D, et al. Med Mol Morphol, 2022 Dec. PMID 36131166, Free PMC Article

See all (111) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Myocardial sodium-glucose cotransporter 2 expression and cardiac remodelling in patients with severe aortic stenosis: The BIO-AS study.
    Title: Myocardial sodium-glucose cotransporter 2 expression and cardiac remodelling in patients with severe aortic stenosis: The BIO-AS study.
  2. SGLT2 inhibition and three urological cancers: Up-to-date results.
    Title: SGLT2 inhibition and three urological cancers: Up-to-date results.
  3. Role of SLC5A2 polymorphisms and effects of genetic polymorphism on sodium glucose cotransporter 2 inhibitorsinhibitor response.
    Title: Role of SLC5A2 polymorphisms and effects of genetic polymorphism on sodium glucose cotransporter 2 inhibitorsinhibitor response.
  4. Role and molecular mechanisms of SGLT2 inhibitors in pathological cardiac remodeling (Review).
    Title: Role and molecular mechanisms of SGLT2 inhibitors in pathological cardiac remodeling (Review).
  5. Inhibition of Sodium-Glucose Cotransporter-2 during Serum Deprivation Increases Hepatic Gluconeogenesis via the AMPK/AKT/FOXO Signaling Pathway.
    Title: Inhibition of Sodium-Glucose Cotransporter-2 during Serum Deprivation Increases Hepatic Gluconeogenesis via the AMPK/AKT/FOXO Signaling Pathway.
  6. Sodium glucose cotransporter2 inhibitors for type 1 diabetes mellitus: A meta-analysis of randomized controlled trials.
    Title: Sodium glucose cotransporter2 inhibitors for type 1 diabetes mellitus: A meta-analysis of randomized controlled trials.
  7. Sodium-glucose cotransporter 2 inhibition in primary and secondary glomerulonephritis.
    Title: Sodium-glucose cotransporter 2 inhibition in primary and secondary glomerulonephritis.
  8. Evaluation of the Effect of Sodium-Glucose Cotransporter 2 Inhibition on Fracture Risk: Evidence From Mendelian Randomization and Genetic Association Study.
    Title: Evaluation of the Effect of Sodium-Glucose Cotransporter 2 Inhibition on Fracture Risk: Evidence From Mendelian Randomization and Genetic Association Study.
  9. COVID-19 promotes endothelial dysfunction and thrombogenicity: role of proinflammatory cytokines/SGLT2 prooxidant pathway.
    Title: COVID-19 promotes endothelial dysfunction and thrombogenicity: role of proinflammatory cytokines/SGLT2 prooxidant pathway.
  10. A Transcriptome Array-Based Approach to Link SGLT-2 and Intrarenal Complement C5 Synthesis in Diabetic Nephropathy.
    Title: A Transcriptome Array-Based Approach to Link SGLT-2 and Intrarenal Complement C5 Synthesis in Diabetic Nephropathy.
Submit: New GeneRIF Correction See all GeneRIFs (103)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial renal glucosuria
MedGen: C3245525 OMIM: 233100 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables D-glucose transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alpha-glucoside transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glucose:sodium symporter activity EXP
Inferred from Experiment
more info
 PubMed 
enables glucose:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glucose:sodium symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glucose:sodium symporter activity TAS
Traceable Author Statement
more info
  
enables low-affinity glucose:sodium symporter activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in alpha-glucoside transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in carbohydrate metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in glucose import across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in hexose transmembrane transport TAS
Traceable Author Statement
more info
  
involved_in renal glucose absorption ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sodium ion import across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sodium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
sodium/glucose cotransporter 2
Names
Na(+)/glucose cotransporter 2
low affinity sodium-glucose cotransporter
solute carrier family 5 (sodium/glucose cotransporter), member 2
solute carrier family 5 (sodium/glucose transporter), member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012892.1 RefSeqGene

    Range
    5006..12652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003041.4 → NP_003032.1  sodium/glucose cotransporter 2

    See identical proteins and their annotated locations for NP_003032.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer, protein-coding transcript.
    Source sequence(s)
    AI222550, M95549
    Consensus CDS
    CCDS10714.1
    UniProtKB/Swiss-Prot
    A2RRD2, P31639
    Related
    ENSP00000327943.3, ENST00000330498.4
    Conserved Domains (1) summary
    cd11487
    Location:24 → 672
    SLC5sbd_SGLT2; Na(+)/glucose cotransporter SGLT2 and related proteins; solute-binding domain

RNA

  1. NR_130783.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two consecutive exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI222550, BC131542

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    31483123..31490769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721072.5 → XP_006721135.3  sodium/glucose cotransporter 2 isoform X1

    UniProtKB/TrEMBL
    Q8WY15

  2. XM_024450402.2 → XP_024306170.2  sodium/glucose cotransporter 2 isoform X2

    Related
    ENSP00000410601.2, ENST00000419665.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    31870510..31878162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313745.1 → XP_054169720.1  sodium/glucose cotransporter 2 isoform X1

    UniProtKB/TrEMBL
    Q8WY15

  2. XM_054313746.1 → XP_054169721.1  sodium/glucose cotransporter 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P31639.1 GenPept UniProtKB/Swiss-Prot:P31639

Gene LinkOut

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