CTR9
Chr 11CTR9 component of Paf1/RNA polymerase II complex
Also known as: SH2BP1, TSBP, p150, p150TSP
CTR9 encodes a component of the PAF1 complex that regulates RNA polymerase II transcription and histone modifications, particularly affecting Hox gene expression and stem cell development. Mutations cause autosomal dominant developmental disorders with features including intellectual disability, growth deficiency, and multiple congenital anomalies. This gene is highly constrained against loss-of-function variants (pLI >0.99), indicating that heterozygous mutations are likely pathogenic.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CTR9 · 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