ITM2C

Chr 2

integral membrane protein 2C

Also known as: BRI3, BRICD2C, E25, E25C, ITM3

NCBI Gene: 81618 ENSG00000135916 UniProt: Q9NQX7

The ITM2C protein negatively regulates amyloid-beta peptide production by inhibiting APP processing through alpha- and beta-secretase pathways. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows moderate constraint against loss-of-function variants (pLI 0.70, LOEUF 0.50), suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Enables amyloid-beta binding activity. Involved in negative regulation of neuron projection development and neuron differentiation. Located in several cellular components, including Golgi apparatus; lysosome; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429