Gene: [03q26/SLC2A2] solute carrier family 2 (facilitated glucose transporter), member 2; glucose transporter 2 (liver); Fanconi-Bickel syndrome (hepatorenal glycogenosis with renal Fanconi syndrome; MIM:227810); hepatic glycogenosis with aminoaciduria and glucosuria (MIM:227810); diabetes mellitus, noninsulin-dependent (pseudo-phlorizin diabetes); [GLUT2 FBS ]
|
COM |
The SLC2A2/GLUT2 gene was mapped to chromosome 3q26.1-q26.3 by somatic cell hybridization and in situ hybridization (Fukumoto-1988). Matsutani-1992 positioned the GLUT2 gene on 3q using a (CA)n dinucleotide repeat polymorphism adjacent to the 3-prime end of exon 4a." |
|
GEN |
The gene length: 30 kb (approximately); exons: 11; introns: 10 (Takeda-1993). The cDNA length is 3168 bp (Fukumoto-1988)." |
|
MOP |
The primary translation product (524 amino acid residues in length) presumably has MM 57.5 kD." |
|
FUN |
SLC2A2/GLUT2 is a low-affinity transporter present in the plasma membrane of pancreatic beta-cells, hepatocytes, and intestine and kidney absorptive epithelial cells. SLC2A2 may be involved in control of glucose-stimulated insulin secretion by pancreatic beta-cells. One of mutations in the SLC2A2 gene that abolished transport activity in a patient with noninsulin-dependent diabetes mellitus (Mueckler-1994)." |
|
EVO |
The primary translation product of SLC2A2 is 55% homologous to an erythrocytic glucose transport protein (GEM:01p3/SLC2A1)." |
|
PAT |
Fanconi-Bickel syndrome is a rare disease, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. Renal tubular dysfunction is characterized by a specific pattern of impaired proximal tubular transport mechanisms, with marked impairment of glucose transport (Manz-1987)." |
|
HIS |
The gene was identified with the use of a DNA probe that was identical to a region of cloned GLUT gene; other GLUT genes were identified using similar procedures (see GEM:01p3/SLC2A1)." |
|
REF |
COD,SEQ,LOC "Fukumoto H &: PNAS, 85, N15, 5434-5438, 1988 REV,PAT "Manz F &: Pediatr Nephrol, 1, N3, 509-518, 1987 LOC,LIN,POL "Matsutani A &: Genomics, 13, 495-501, 1992 MUT,PAT "Mueckler M &: JBC, 269, 17765-17767, 1994 COD,PRO,EXP "Permutt MA &: PNAS, 86, N22, 8688-8692, 1989 MUT,PAT,POL "Tanizawa Y &: Diabetologia, 37, 420-427, 1994 |
|
KEY |
horm, trp, carb, ren, mtbd |
|
CLA |
coding, basic |
|
LOC |
03 q26 |
|
MIM |
MIM: 138160 |
|
SYN |
GLUT2 FBS |
