SLC5A2 Chromosome 16

Solute carrier family 5 member 2
38 variants 38 Health Risk

Upload your DNA to see your personal genotypes for variants in SLC5A2.

What This Gene Does
This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]
Gene Info
Gene Group
Solute carrier family 5
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000140675
Associated Conditions (6)
Familial renal glucosuria
Inborn genetic diseases
See cases
Colorectal cancer
SLC5A2-related disorder
Gastric cancer
Key Variants
RS1294044448
Conflicting classifications of pathogenicity
Familial renal glucosuria, Familial renal glucosuria
Health Risk
RS138795531
Conflicting classifications of pathogenicity
Familial renal glucosuria, Inborn genetic diseases, Familial renal glucosuria
Health Risk
RS139661242
Conflicting classifications of pathogenicity
Familial renal glucosuria, Familial renal glucosuria
Health Risk
RS147697689
Conflicting classifications of pathogenicity
Familial renal glucosuria, Familial renal glucosuria
Health Risk
RS149525864
Conflicting classifications of pathogenicity
Familial renal glucosuria, Familial renal glucosuria
Health Risk
RS150546732
Conflicting classifications of pathogenicity
Familial renal glucosuria, Familial renal glucosuria
Health Risk
RS199521654
Conflicting classifications of pathogenicity
Familial renal glucosuria, Inborn genetic diseases, Familial renal glucosuria
Health Risk
RS199795513
Conflicting classifications of pathogenicity
Familial renal glucosuria, Familial renal glucosuria
Health Risk
RS200228142
Conflicting classifications of pathogenicity
Familial renal glucosuria, See cases, Colorectal cancer
Health Risk
RS200862764
Conflicting classifications of pathogenicity
Inborn genetic diseases, Familial renal glucosuria, Inborn genetic diseases
Health Risk
RS267607067
Conflicting classifications of pathogenicity
Familial renal glucosuria, SLC5A2-related disorder, Familial renal glucosuria
Health Risk
RS564929531
Conflicting classifications of pathogenicity
Inborn genetic diseases, Familial renal glucosuria, Inborn genetic diseases
Health Risk
All Variants (38)
RSID Category Clinical Significance Conditions
RS1294044448 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS138795531 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Inborn genetic diseases, Familial renal glucosuria
RS139661242 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS147697689 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS149525864 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS150546732 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS199521654 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Inborn genetic diseases, Familial renal glucosuria
RS199795513 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS200228142 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, See cases, Colorectal cancer
RS200862764 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial renal glucosuria, Inborn genetic diseases
RS267607067 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, SLC5A2-related disorder, Familial renal glucosuria
RS564929531 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial renal glucosuria, Inborn genetic diseases
RS61742739 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, SLC5A2-related disorder, Familial renal glucosuria
RS750441217 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Inborn genetic diseases, Familial renal glucosuria
RS766548165 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS767198666 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS770588592 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS1309307492 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS148410166 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS2082523114 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS2142631323 Health Risk Likely pathogenic —
RS554372141 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS753455828 Health Risk Likely pathogenic SLC5A2-related disorder, SLC5A2-related disorder
RS757061289 Health Risk Likely pathogenic SLC5A2-related disorder, SLC5A2-related disorder
RS767121482 Health Risk Likely pathogenic SLC5A2-related disorder, SLC5A2-related disorder
RS773289713 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS987447860 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS121918621 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS1555496083 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS2544889035 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS387906682 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS398122801 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS398122802 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS749065127 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS886037850 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS764084563 Health Risk Pathogenic/Likely pathogenic Familial renal glucosuria, SLC5A2-related disorder, Familial renal glucosuria
RS768095044 Health Risk Pathogenic/Likely pathogenic SLC5A2-related disorder, Familial renal glucosuria, Gastric cancer
RS770214617 Health Risk Pathogenic/Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
Sign Up to Analyze Your DNA Log In