CDK11B

Chr 1

cyclin dependent kinase 11B

Also known as: CDC2L1, CDK11, CDK11-p110, CDK11-p46, CDK11-p58, CLK-1, PITSLREA, PK58

This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

0
Active trials
4
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.68
LOEUF
Multiple*
Mechanism· predicted
Clinical SummaryCDK11B
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.68LOEUF
pLI 0.000
Z-score 2.89
OE 0.42 (0.270.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.72Z-score
OE missense 0.72 (0.650.81)
223 obs / 307.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.42 (0.270.68)
00.351.4
Missense OE0.72 (0.650.81)
00.61.4
Synonymous OE1.42
01.21.6
LoF obs/exp: 12 / 28.7Missense obs/exp: 223 / 307.8Syn Z: -3.78
DN
0.74top 25%
GOF
0.6737th %ile
LOF
0.3260th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CDK11B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC