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

    Gene ID: 6524, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31483123..31490769)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31870510..31878162)
    RS_2024_09 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 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 Co-transporters and Their Inhibition: Clinical Physiology. Ferrannini E. Cell Metab, 2017 Jul 5. PMID 28506519
    2. Shift to Fatty Substrate Utilization in Response to Sodium-Glucose Cotransporter 2 Inhibition in Subjects Without Diabetes and Patients With Type 2 Diabetes. Ferrannini E, et al. Diabetes, 2016 May. PMID 26861783
    3. Increased grip strength with sodium-glucose cotransporter 2. Sano M, et al. J Diabetes, 2016 Sep. PMID 27038414
    4. Ketonuria/ketonemia associated with the use of sodium-glucose cotransporter 2 (SGLT-2) inhibitors in type 2 diabetes: A report of three cases from New Delhi, India. Ghosh A, et al. J Diabetes, 2016 Sep. PMID 27085074
    5. Effect of food on the pharmacokinetics of canagliflozin, a sodium glucose co-transporter 2 inhibitor, and assessment of dose proportionality in healthy participants. Devineni D, et al. Clin Pharmacol Drug Dev, 2015 Jul. PMID 27136908

    See all (125) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Co-localization of the sodium-glucose co-transporter-2 channel (SGLT-2) with endothelin ETA and ETB receptors in human cardiorenal tissue.
      Title: Co-localization of the sodium-glucose co-transporter-2 channel (SGLT-2) with endothelin ETA and ETB receptors in human cardiorenal tissue.
    2. 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.
    3. SGLT2 inhibition and three urological cancers: Up-to-date results.
      Title: SGLT2 inhibition and three urological cancers: Up-to-date results.
    4. 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.
    5. 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).
    6. 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.
    7. 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.
    8. Sodium-glucose cotransporter 2 inhibition in primary and secondary glomerulonephritis.
      Title: Sodium-glucose cotransporter 2 inhibition in primary and secondary glomerulonephritis.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (104)

    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 D-glucose:sodium symporter activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables D-glucose:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables D-glucose:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables D-glucose:sodium symporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables alpha-glucoside transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables low-affinity D-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 D-glucose import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 hexose transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in renal D-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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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