SLC2A2 Chromosome 3
Solute carrier family 2 member 2
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What This Gene Does
This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
Solute carrier family 2
Locus Type
gene with protein product
Location
3q26.2
Ensembl
ENSG00000163581
Associated Conditions (6)
Fanconi-Bickel syndrome
SLC2A2-related disorder
Type 2 diabetes mellitus
Inborn genetic diseases
Congenital long QT syndrome
Glioma susceptibility 1
Key Variants
RS140794946
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, SLC2A2-related disorder, Fanconi-Bickel syndrome
Health Risk
RS145210664
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Fanconi-Bickel syndrome, Type 2 diabetes mellitus
Health Risk
RS149460434
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
Health Risk
RS150851401
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome
Health Risk
RS371899639
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome
Health Risk
RS374702599
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, SLC2A2-related disorder, Inborn genetic diseases
Health Risk
RS5397
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, Type 2 diabetes mellitus, SLC2A2-related disorder
Health Risk
RS5398
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome
Health Risk
RS750836049
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
Health Risk
RS762632420
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
Health Risk
RS76362149
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, SLC2A2-related disorder, Fanconi-Bickel syndrome
Health Risk
RS769607196
Conflicting classifications of pathogenicity
Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769888108 | Health Risk | Pathogenic | Fanconi-Bickel syndrome, Fanconi-Bickel syndrome |
| RS771477447 | Health Risk | Pathogenic | Fanconi-Bickel syndrome, SLC2A2-related disorder, Fanconi-Bickel syndrome |
| RS773581866 | Health Risk | Pathogenic | Type 2 diabetes mellitus, Fanconi-Bickel syndrome, Type 2 diabetes mellitus |
| RS780067980 | Health Risk | Pathogenic | Fanconi-Bickel syndrome, Fanconi-Bickel syndrome |
| RS121909744 | Health Risk | Pathogenic/Likely pathogenic | Fanconi-Bickel syndrome, Fanconi-Bickel syndrome |
| RS1318756243 | Health Risk | Pathogenic/Likely pathogenic | Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome |
| RS1447936042 | Health Risk | Pathogenic/Likely pathogenic | Fanconi-Bickel syndrome, Type 2 diabetes mellitus, SLC2A2-related disorder |
| RS756874949 | Health Risk | Pathogenic/Likely pathogenic | Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome |
| RS763620441 | Health Risk | Pathogenic/Likely pathogenic | Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome |
| RS1553784995 | Trait | Affects | Type 2 diabetes mellitus, Type 2 diabetes mellitus |