SLC37A2

Chr 11

solute carrier family 37 member 2

Also known as: SPX2, pp11662

NCBI Gene: 219855 ENSG00000134955 UniProt: Q8TED4

SLC37A2 encodes an inorganic phosphate and glucose-6-phosphate antiporter that transports cytoplasmic glucose-6-phosphate into the endoplasmic reticulum lumen while moving inorganic phosphate in the opposite direction. Mutations cause glycogen storage disease type II (Pompe disease), which follows autosomal recessive inheritance and primarily affects cardiac and skeletal muscle. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Enables glucose 6-phosphate:phosphate antiporter activity. Involved in glucose-6-phosphate transport and phosphate ion transmembrane transport. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.12

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)