SLCtables

SLC5A2

Protein name: SGLT2 Aliases: None Substrates: glucose Transport type: Cotransporter / Na+ Tissue and cellular expression: kidney, brain, liver, heart muscle, thyroid, salivary glands Subcellular expression: N/D Disease: familial renal glucosuria, OMIM 182381 Locus: 16p11.2 Sequence ID: NP_003032.1, NM_003041.3 Gene ID: 6524 Splice variants: N/D

SC5A2_HUMAN (UniProt)

Gene names: SLC5A2, SGLT2
Protein names and data: SC5A2_HUMAN, Full=Sodium/glucose cotransporter 2;Short=Na(+)/glucose cotransporter 2, Full=Low affinity sodium-glucose cotransporter;Full=Solute carrier family 5 member 2; Length: 672 a.a., Mass: 72897 Da,
fasta formatted sequence
Function: Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules
Disease: (OMIM: 182381 233100) Defects in SLC5A2 are the cause of renal glucosuria (GLYS1) [MIM:233100]. GLYS1 is an autosomal recessive disorder characterized by a normal fasting serum glucose concentration and persistent isolated glucosuria, with a normal glucose tolerance test
Cellular location: Membrane; Multi-pass membrane protein

Database cross-references

UniProt: P31639
NextBio: 25379
OMIM: 182381 233100
Ensembl: ENST00000330498
GeneCard: GC16P031494
PharmGenUCSF: SLC5A2
Guide to Pharmacology: SLC5A2 (916)
Hexose transporter family (916)
HGNC: HGNC:11037

Genetic variants

See also Ensembl:ENST00000330498

654 - 654 N -> S (in GLYS1). VAR_019310