TANC2
Chr 17ADtetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
Also known as: IDDALDS, ROLSA, rols
The protein serves as a scaffolding protein in dendritic spines that recruits dense core vesicles to postsynaptic sites. Autosomal dominant mutations cause intellectual developmental disorder with autistic features and language delay, with or without seizures. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 16 | 0 | 1 | 0 | 17 |
Likely Pathogenic | 24 | 0 | 2 | 0 | 26 |
VUS | 11 | 328 | 13 | 4 | 356 |
Likely Benign | 0 | 26 | 4 | 39 | 69 |
Benign | 0 | 0 | 0 | 4 | 4 |
Conflicting | — | 4 | |||
| Total | 51 | 354 | 20 | 47 | 476 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TANC2 · 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
External Resources
Links to major genomics databases and tools