Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6524
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 5 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC5A2
Synonyms (NCBI Gene) Gene synonyms aliases
SGLT2
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez 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 associat
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000017 Process Alpha-glucoside transport IDA 20980548, 26376857
GO:0005362 Function Low-affinity glucose:sodium symporter activity TAS 8244402
GO:0005412 Function Glucose:sodium symporter activity EXP 11133510
GO:0005412 Function Glucose:sodium symporter activity IBA 21873635
GO:0005412 Function Glucose:sodium symporter activity IDA 20980548
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182381 11037 ENSG00000140675
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Renal glucosuria Familial renal glucosuria rs121918621, rs398122801, rs387906682, rs398122802, rs886037850, rs1309307492, rs1555496083, rs773289713, rs987447860, rs200228142, rs770214617 14614622, 21165652, 24255686
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 38232717
Adenocarcinoma of Lung Associate 38232717
Aortic Valve Stenosis Associate 38247224
Asthma Inhibit 39318474
Autistic Disorder Associate 31969655
Breast Neoplasms Associate 31776304
Calcinosis Cutis Associate 11509120
Candidiasis Associate 26735923
Carcinogenesis Associate 35977549
Carcinoma Renal Cell Associate 30521176