solute carrier family 2 member 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalDiabetes with additional phenotypes suggestive of a monogenic aetiology
BIALLELIC, autosomal or pseudoautosomalFamilial diabetes
BIALLELIC, autosomal or pseudoautosomalGlycogen storage disease
BIALLELIC, autosomal or pseudoautosomalKetotic hypoglycaemia
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalNeonatal diabetes
BIALLELIC, autosomal or pseudoautosomalRenal tubulopathies
BIALLELIC, autosomal or pseudoautosomal+6 more panels — install the extension to see the full list inline on any page.
glycogen storage disease due to GLUT2 deficiency
type 2 diabetes mellitus
diabetic ketoacidosis
transient neonatal diabetes mellitus
neonatal diabetes mellitus
permanent neonatal diabetes mellitus
renal tubular transport disease
gout
diabetes mellitus
obesity disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Solute carrier family 2, facilitated glucose transporter member 2
Facilitative hexose transporter that mediates the transport of glucose, fructose and galactose (PubMed:16186102, PubMed:23396969, PubMed:28083649, PubMed:8027028, PubMed:8457197). Likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of beta cells (PubMed:8027028). May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney (PubMed:3399500). Also able to mediate the transport of dehydroascorbate and urate (PubMed:23396969, PubMed:40209957)
Curated MONDO disease pages that list SLC2A2 among their top associated genes.
SLC2A2 · P11168
Mean pLDDT
86.6/ 100
Confident
524 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
