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SLC5A2

Chr 16p11.2

solute carrier family 5 member 2

MANE:
ENST00000330498.4
OMIM: 182381 ↗NCBI: 6524 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Renal tubulopathies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Intellectual disability

Disease associations (Open Targets)

  • familial renal glucosuria

    0.70

  • type 2 diabetes mellitus

    0.64

  • heart failure

    0.63

  • chronic kidney disease

    0.63

  • diabetes mellitus

    0.62

  • type 1 diabetes mellitus

    0.61

  • Disorder of carbohydrate metabolism

    0.57

  • Renal glucosuria

    0.53

  • carbohydrate metabolism disease

    0.52

  • systolic heart failure

    0.51

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sodium/glucose cotransporter 2

Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose at the plasma membrane, with a Na(+) to sugar coupling ratio of 1:1 (PubMed:20980548, PubMed:28592437, PubMed:34880493, PubMed:37217492, PubMed:38057552). Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump (PubMed:20980548, PubMed:28592437, PubMed:34880493). Unlike SLC5A1/SGLT1, requires the auxiliary protein PDZK1IP1/MAP17 for full transporter activity (PubMed:37217492). Has a primary role in D-glucose reabsorption from glomerular filtrate across the brush border of the early proximal tubules of the kidney (By similarity)

Diseases associated with SLC5A2

Curated MONDO disease pages that list SLC5A2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.