SLC2A2 Chromosome 3

Solute carrier family 2 member 2
60 variants 59 Health Risk 1 Trait

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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
RS140794946 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, SLC2A2-related disorder, Fanconi-Bickel syndrome
RS145210664 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS149460434 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS150851401 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome
RS371899639 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome
RS374702599 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, SLC2A2-related disorder, Inborn genetic diseases
RS5397 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Type 2 diabetes mellitus, SLC2A2-related disorder
RS5398 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome
RS750836049 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS762632420 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS76362149 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, SLC2A2-related disorder, Fanconi-Bickel syndrome
RS769607196 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS993283861 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS121909741 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1350704340 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1553785033 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2108244550 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2473906384 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome
RS2473923727 Health Risk Likely pathogenic SLC2A2-related disorder, SLC2A2-related disorder
RS2473935676 Health Risk Likely pathogenic SLC2A2-related disorder, SLC2A2-related disorder
RS756163471 Health Risk Likely pathogenic —
RS761992056 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS771799491 Health Risk Likely pathogenic SLC2A2-related disorder, SLC2A2-related disorder
RS772999215 Health Risk Likely pathogenic SLC2A2-related disorder, Type 2 diabetes mellitus, Fanconi-Bickel syndrome
RS985090030 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1114167428 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS121909742 Health Risk Pathogenic Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Congenital long QT syndrome
RS121909743 Health Risk Pathogenic Fanconi-Bickel syndrome, Type 2 diabetes mellitus, Fanconi-Bickel syndrome
RS121909745 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS121909746 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS121909747 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1294679246 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1319329059 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1386374799 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1553784980 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1553785722 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1553786361 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1560033414 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1560035336 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1576838294 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1715182989 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1715390589 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1716716102 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2108256953 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2473882353 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2473906350 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2473916930 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS28928874 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS371977235 Health Risk Pathogenic Type 2 diabetes mellitus, Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS753980727 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
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