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FLASH GENE

Symbol

SLC2A2

contributors: mct - updated : 28-05-2014

HGNC name	solute carrier family 2 (facilitated glucose transporter), member 2
HGNC id	11006

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FBIS Fanconi-Bickel syndrome
Location	3q26.2      Physical location : 170.714.136 - 170.744.768
Synonym name	glucose transporter type 2, liver
Synonym symbol(s)	GLUT2, GTR2

DNA

TYPE	functioning gene
STRUCTURE	30.63 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001278658 10 - 3176 NP_001265587 - 405 - 2002 12135767 NM_001278659 10 - 3314 NP_001265588 - 351 - 2002 12135767 NM_000340 11 - 3439 NP_000331 - 524 - 2002 12135767

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Homo sapiens Endocrine pancreas       predominantly Homo sapiens Urinary kidney       highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol   epithelial cell Endocrine islet cell (alpha,beta...) Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve putative transmembrane segments (12TM)
	intracellular N and C termini
	a large extracellular loop with a glycosylation site between TM1 and 2
	a small and a large intracellular loops,respectively between TM2 and 3 and TM8 and 9,both with the conserved RXGRR motif

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to murine Slc2a2

Homologene

FAMILY

solute carrier family 2 (sugar transporter family), glucose transporter subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	basolateral membrane

basic FUNCTION	facilitated glucose transporter, involved in glucosamine transport
	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
	functions as part of the glucose sensing mechanism for the stimulation of insulin secretion (pMID: 19477941)
	is unlikely to be the principal glucose transporter in human beta-cells
	important role of SLC2A2 transporter fueling metabolism at body level
	role important during embryonic period for differentiation of insulin-producing cells and insulin secretion
	having functions in pancreatic beta cell development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

facilitated diffusion transport

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

hyperglycemia directly affects beta-cell function and activates a trafficking pathway that results in the rapid endocytosis and degradation of the cell surface SLC2A2 glucose transporter

cell & other

REGULATION

ASSOCIATED DISORDERS

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

Susceptibility

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

ANIMAL & CELL MODELS

homozygous mice deficient in GLUT2 are hyperglycemic and relatively hypoinsulinemic and have elevated plasma levels of glucagon, free fatty acids, and beta-hydroxybutyrate