TONSL
Chr 8ARtonsoku like, DNA repair protein
Also known as: IKBR, NFKBIL2, SEMDSP
The protein functions as a component of the MMS22L-TONSL complex that promotes homologous recombination-mediated repair of DNA double-strand breaks during replication and acts as a histone reader that recognizes newly synthesized histones. Mutations cause spondyloepimetaphyseal dysplasia, sponastrime type, a skeletal dysplasia affecting spine and bone development. This condition follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TONSL · 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