CDK15

Chr 2

cyclin dependent kinase 15

Also known as: ALS2CR7, PFTAIRE2, PFTK2

CDK15 encodes a serine/threonine protein kinase that phosphorylates BIRC5 and acts as an antiapoptotic protein by countering TRAIL-induced apoptosis. The gene shows minimal constraint against loss-of-function variants (pLI near zero), and no established Mendelian diseases have been definitively linked to CDK15 mutations in the current literature. Further research is needed to determine if CDK15 variants cause human disease.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.35
Clinical SummaryCDK15
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

opentargets: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.35LOEUF
pLI 0.000
Z-score 0.13
OE 0.97 (0.711.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.00Z-score
OE missense 1.00 (0.901.11)
239 obs / 238.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.97 (0.711.35)
00.351.4
Missense OE1.00 (0.901.11)
00.61.4
Synonymous OE1.05
01.21.6
LoF obs/exp: 26 / 26.7Missense obs/exp: 239 / 238.8Syn Z: -0.36
DN
0.6358th %ile
GOF
0.6150th %ile
LOF
0.4429th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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

CDK15 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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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