TELO2
Chr 16ARtelomere maintenance 2
TELO2 encodes a protein that regulates the DNA damage response and is required to stabilize phosphatidylinositol 3-kinase-related protein kinases, while also promoting assembly and maintaining activity of mTORC1 and mTORC2 complexes that regulate cell growth and survival. Mutations cause You-Hoover-Fong syndrome, which follows autosomal recessive inheritance. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive disease mechanism.
Definitive — sufficient evidence for diagnostic panels
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
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TELO2 · 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