STOML2
Chr 9stomatin like 2
Also known as: HSPC108, SLP-2
The STOML2 protein regulates mitochondrial biogenesis and organization, stimulates cardiolipin biosynthesis, and plays roles in calcium homeostasis, T-cell activation, and cellular stress responses. Mutations cause autosomal recessive mitochondrial disorders affecting multiple systems including immune function and cellular energy metabolism. This gene is moderately constrained against loss-of-function variants, suggesting that complete loss of protein function is not well tolerated.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
STOML2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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