Symbol
| SLC2A2
| contributors: mct - updated : 28-05-2014
|
HGNC name
| solute carrier family 2 (facilitated glucose transporter), member 2
|
HGNC id
| 11006
|
corresponding disease(s)
|
FBIS
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
|  
|  
| loss of function
|
biallelic SLC2A2 inactivation causes lethal neonatal diabetes | |
Variant & Polymorphism
SNP
| are associated with the conversion from impaired glucose tolerance to type 2 diabetes |
|
polymorphisms at positions -269, -44, or + 103 may affect GLUT2 gene transcription, possibly associated with reduced expression of the GLUT2 gene in NIDDM patients |
|
|
Candidate gene
Marker
Therapy target
| | | |
| homozygous mice deficient in GLUT2 are hyperglycemic and relatively hypoinsulinemic and have elevated plasma levels of glucagon, free fatty acids, and beta-hydroxybutyrate |