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FLASH GENE

Symbol

SLC2A3

contributors: np/mct - updated : 19-05-2015

HGNC name	solute carrier family 2 (facilitated glucose transporter), member 3
HGNC id	11007

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   amplification     SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with del22q11 constitutional     --over   in human pregnancies complicated by late-onset intrauterine growth restriction constitutional     --low   in Alzheimer Disease brain and correlates with tau pathology

Susceptibility

to myelomeningocele

Variant & Polymorphism SNP	involving the SLC2A3 gene may be associated with increased susceptibility to myelomeningocele

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     may be a potential target for therapy against cancers caused by the aberrantly activated MTOR signaling

ANIMAL & CELL MODELS

homozygous null deletion of Slc2a3 is embryonic lethal in mice and the heterozygous deletion is not lethal but results in intrauterine growth retardation