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BMT2

Chr 7

S-adenosylmethionine sensor upstream of mTORC1

Also known as: BMT2, C7orf60

NCBI Gene: 154743 UniProt: Q1RMZ1 OMIM: 617855

The BMT2 protein functions as an S-adenosyl-L-methionine sensor that regulates mTORC1 signaling in response to methionine availability, binding S-adenosyl-L-methionine during methionine sufficiency to promote mTORC1 activity and interacting with GATOR1 and KICSTOR complexes during methionine starvation to inhibit mTORC1. BMT2 is highly constrained against loss-of-function variation (pLI=0.997, LOEUF=0.17), suggesting that mutations in this gene are likely to cause severe disease, though specific associated phenotypes have not yet been established in humans. The inheritance pattern for BMT2-related disorders has not been determined.

OMIM ResearchSummary from RefSeq, UniProt

Enables S-adenosyl-L-methionine binding activity. Involved in cellular response to amino acid starvation; cellular response to methionine; and positive regulation of TORC1 signaling. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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