SLC5A2

Chr 16

solute carrier family 5 member 2

Also known as: SGLT2

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRenal glucosuria
2
Active trials
51
Pubs (1 yr)
P/LP submissions
P/LP missense
1.12
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.12LOEUF
pLI 0.000
Z-score 1.02
OE 0.80 (0.581.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.16Z-score
OE missense 1.16 (1.081.25)
472 obs / 406.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.80 (0.581.12)
00.351.4
Missense OE?1.16 (1.081.25)
00.61.4
Synonymous OE?1.21
01.21.6
LoF obs/exp: 24 / 30.0Missense obs/exp: 472 / 406.4Syn Z: -2.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC5A2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.