SLCtables

SLC2A2

Protein name: GLUT2 Aliases: N/D Substrates: glucose, galactose, fructose, mannose, glucosamine Transport type: Facilitated transporter Tissue and cellular expression: liver, islet of Langerhans, intestine, kidney, brain Subcellular expression: N/D Disease: Fanconi-Bickel syndrome, (type 2 diabetes) Locus: 3q26.1-q26.2 Sequence ID: NP_000331.1, NM_000340.1 Gene ID: 6514 Splice variants: N/D

GTR2_HUMAN (UniProt)

Gene names: SLC2A2, GLUT2
Protein names and data: GTR2_HUMAN, Full=Solute carrier family 2, facilitated glucose transporter member 2, Full=Glucose transporter type 2, liver;Short=GLUT-2; Length: 524 a.a., Mass: 57490 Da,
fasta formatted sequence
Function: Facilitative glucose transporter. This isoform 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 the beta cell. May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney
Disease: (OMIM: 138160 227810) Defects in SLC2A2 are the cause of Fanconi-Bickel syndrome (FBS) [MIM:227810]. FBS is a rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Liver, insulin-producing beta cell, small intestine and kidney

Database cross-references

UniProt: P11168
NextBio: 25331
OMIM: 138160 227810
Ensembl: ENST00000314251
GeneCard: GC03M171002
TCDB: 2.A.1.1.29
PharmGenUCSF: SLC2A2
Guide to Pharmacology: SLC2A2 (876)
Class I transporters (876)
HGNC: HGNC:11006

Genetic variants

See also Ensembl:ENST00000314251

68 - 68 P -> L (in dbSNP:rs7637863). VAR_007169 7637863
101 - 101 V -> I (in dbSNP:rs1800572). VAR_014718 1800572
110 - 110 T -> I (in dbSNP:rs5400). VAR_014719 5400
197 - 197 V -> I (in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes). VAR_018650
389 - 389 L -> P (in FBS). VAR_018651
404 - 404 I -> T (in dbSNP:rs2229608). VAR_052501 2229608
417 - 417 P -> L (in FBS). VAR_018652
423 - 423 V -> E (in FBS; dbSNP:rs28928874). VAR_018653 28928874
478 - 478 L -> V (in dbSNP:rs5397). VAR_014720 5397