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

Summary

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

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
SGLT2 inhibition and three urological cancers: Up-to-date results.
Title: SGLT2 inhibition and three urological cancers: Up-to-date results.
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.
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).
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.
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.
Sodium-glucose cotransporter 2 inhibition in primary and secondary glomerulonephritis.
Title: Sodium-glucose cotransporter 2 inhibition in primary and secondary glomerulonephritis.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-61098 (e-PCR)
- UniSTS:17451

RH69206 (e-PCR)
- UniSTS:85834

RH98795 (e-PCR)
- UniSTS:88519

SHGC-58809 (e-PCR)
- UniSTS:94453

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 more info	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

NG_012892.1 RefSeqGene

Range

5006..12652

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

31483123..31490769

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q8WY15
XM_024450402.2 → XP_024306170.2 sodium/glucose cotransporter 2 isoform X2

Related

ENSP00000410601.2, ENST00000419665.6

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

31870510..31878162

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q8WY15
XM_054313746.1 → XP_054169721.1 sodium/glucose cotransporter 2 isoform X2