TASOR2
Chr 10transcription activation suppressor family member 2
Also known as: C10orf18, FAM208B, bA318E3.2
TASOR2 encodes a core scaffolding component of the HUSH2 complex that mediates epigenetic repression of interferon-stimulated genes through recruitment of other complex members. The gene is highly constrained against loss-of-function variants (LOEUF 0.332), suggesting that mutations would likely cause severe developmental consequences. However, no specific genetic disorders have been definitively associated with TASOR2 mutations to date.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Tolerant to missense variation
ClinVar Variant Classifications
431 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 | 0 | 0 | 23 | 0 | 23 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 313 | 10 | 0 | 323 |
Likely Benign | 0 | 38 | 0 | 2 | 40 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 351 | 36 | 2 | 389 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TASOR2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools