CDK15
protein-codingcyclin dependent kinase 15, the group of Cyclin dependent kinases
Gene summary
Enables protein serine/threonine kinase activity. Predicted to be involved in regulation of cell cycle phase transition. Predicted to be part of cyclin-dependent protein kinase holoenzyme complex. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]
- ALS2CR7
- PFTK2
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~105.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CDK15 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001366386.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 57 | 57 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 58 | 0 | 0 | 58 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001353315.1 | 13 | MANE Select | |
| Ensembl | ENSP00000498608.2 | 13 | MANE Select | |
| RefSeq | NP_001248364.1 | 13 | Standard | |
| RefSeq | NP_001248365.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- protein phosphorylation
- regulation of cell cycle
Molecular Function
- protein serine/threonine kinase activity
- cyclin-dependent protein serine/threonine kinase activity
- protein binding
- ATP binding
- cyclin binding
Cellular Component
- nucleus
- cytoplasm
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000450471
- Coding exons
- 13
- Length
- 105090
- Individuals with no LoFs
- 125277
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 469
- Defined
- 125748
- p
- 0.00187
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.00459 | 239 | 239 | 1.00 | 0.0000126 | 2794 |
| Missense (PolyPhen) | 79 | 84.184 | 0.93843 | 972 | ||
| Synonymous | -0.364 | 96 | 91.6 | 1.05 | 0.00000495 | 834 |
| Loss of Function | 0.126 | 26 | 26.7 | 0.974 | 0.00000129 | 304 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0051 | 0.0050 | notable |
| Latino/Admixed American | 0.0018 | 0.0018 | notable |
| Ashkenazi Jewish | 0.00020 | 0.00020 | rare |
| East Asian | 0.0010 | 0.0010 | notable |
| Finnish | 0.0024 | 0.0025 | notable |
| European (Non-Finnish) | 0.0017 | 0.0017 | notable |
| South Asian | 0.0019 | 0.0019 | notable |
| Other | 0.00065 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Serine/threonine-protein kinase that acts like an antiapoptotic protein that counters TRAIL/TNFSF10-induced apoptosis by inducing phosphorylation of BIRC5 at 'Thr-34'. {ECO:0000269|PubMed:24866247}.;
Recessive Scores
- pRec
- 0.0829
Intolerance Scores
- LoFtool
- 0.940
- RVIS EVS
- -0.02
- RVIS percentile EVS
- 52.09
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.539
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |