Gene Gene information from NCBI Gene database.
Entrez ID 6524
Gene name Solute carrier family 5 member 2
Gene symbol SLC5A2
Synonyms (NCBI Gene)
SGLT2
Chromosome 16
Chromosome location 16p11.2
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 associat
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs121918621 G>A Pathogenic Intron variant, coding sequence variant, stop gained
rs200228142 G>A Pathogenic-likely-pathogenic Intron variant
rs267607067 A>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs398122801 C>A,G,T Pathogenic Intron variant
rs398122802 C>A,G,T Pathogenic Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
135
miRTarBase ID miRNA Experiments Reference
MIRT529892 hsa-miR-3155a PAR-CLIP 22012620
MIRT529891 hsa-miR-3155b PAR-CLIP 22012620
MIRT529890 hsa-miR-484 PAR-CLIP 22012620
MIRT529889 hsa-miR-4286 PAR-CLIP 22012620
MIRT529887 hsa-miR-6886-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000017 Process Alpha-glucoside transport IDA 20980548, 26376857
GO:0005362 Function Low-affinity D-glucose:sodium symporter activity TAS 8244402
GO:0005412 Function D-glucose:sodium symporter activity EXP 11133510
GO:0005412 Function D-glucose:sodium symporter activity IBA
GO:0005412 Function D-glucose:sodium symporter activity IDA 20980548, 28592437
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
182381 11037 ENSG00000140675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31639
Protein name Sodium/glucose cotransporter 2 (Na(+)/glucose cotransporter 2) (Low affinity sodium-glucose cotransporter) (Solute carrier family 5 member 2)
Protein function Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose at the plasma membrane, with a Na(+) to sugar coupling ratio of 1:1 (PubMed:20980548, PubMed:28592437, PubMed:34880493, PubMed:37217492, PubMed:38057552). Transporter
PDB 7VSI , 7YNJ , 7YNK , 8HB0 , 8HDH , 8HEZ , 8HG7 , 8HIN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00474 SSF 55 492 Sodium:solute symporter family Family
Sequence
Sequence length 672
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cellular hexose transport
Defective SLC5A2 causes renal glucosuria (GLYS1)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial renal glucosuria Likely pathogenic; Pathogenic rs148410166, rs554372141, rs2082523114, rs886037850, rs749065127, rs764084563, rs121918621, rs768095044, rs2544889035, rs398122801, rs387906682, rs398122802, rs1309307492, rs1555496083, rs773289713
View all (2 more)
RCV002503164
RCV002506745
RCV003131528
RCV000239563
RCV003324614
RCV003324620
RCV000013767
RCV005021953
RCV003991390
RCV000022761
RCV000408654
RCV000022763
RCV000505656
RCV000625681
RCV000625556
RCV005021123
RCV000991458
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer Likely pathogenic; Pathogenic rs768095044 RCV005871154
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC5A2-related disorder Likely pathogenic; Pathogenic rs764084563, rs768095044, rs757061289, rs753455828, rs767121482 RCV003901011
RCV003419243
RCV003414575
RCV003391670
RCV003393251
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLYCOSURIA, RENAL CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 38232717
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 38232717
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Associate 38247224
★☆☆☆☆
Found in Text Mining only
Asthma Inhibit 39318474
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Associate 31969655
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 31776304
★☆☆☆☆
Found in Text Mining only
Calcinosis Cutis Associate 11509120
★☆☆☆☆
Found in Text Mining only
Candidiasis Associate 26735923
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 35977549
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 30521176
★☆☆☆☆
Found in Text Mining only