CDK11A
Chr 1cyclin dependent kinase 11A
Also known as: CDC2L2, CDC2L3, CDK11-p110, CDK11-p46, CDK11-p58, PITSLRE, p58GTA
This gene encodes a cyclin-dependent protein kinase that regulates transcription and pre-mRNA splicing by phosphorylating key components of the spliceosome and RNA polymerase II. CDK11A mutations cause autosomal dominant neurodevelopmental disorder with developmental delay, intellectual disability, and seizures, with onset in infancy or early childhood. The gene shows minimal tolerance to loss-of-function variants in the general population, indicating it is highly constrained and essential for normal function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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.
ClinVar Variant Classifications
289 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 | 125 | 0 | 125 |
Likely Pathogenic | 0 | 0 | 8 | 0 | 8 |
VUS | 1 | 116 | 20 | 0 | 137 |
Likely Benign | 0 | 3 | 1 | 6 | 10 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 119 | 154 | 6 | 280 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDK11A · 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