TM7SF3

Chr 12

transmembrane 7 superfamily member 3

NCBI Gene: 51768 ENSG00000064115 UniProt: Q9NS93 OMIM: 605181

The TM7SF3 protein is a plasma membrane protein that promotes pancreatic beta cell survival by inhibiting cytokine-induced cell death and attenuating endoplasmic reticulum stress, while also promoting insulin secretion. Mutations cause autosomal recessive congenital hyperinsulinism, typically presenting in the neonatal period with severe hypoglycemia. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Involved in cellular response to unfolded protein; negative regulation of programmed cell death; and positive regulation of insulin secretion. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.84

LOEUF

Mechanism· predicted