BMT2
Chr 7S-adenosylmethionine sensor upstream of mTORC1
Also known as: BMT2, C7orf60
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.
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/BMT2?content-type=application/json&expand=1
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
8 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 3 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 4 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 8 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BMT2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools