CDK9 (Cyclin-dependent kinase 9) variants and mutations

CDK9 (also known as Cyclin-dependent kinase 9) is a human protein-coding gene encoding a cyclin-dependent kinase 9 protein. It promotes productive transcriptional elongation by phosphorylating RNA polymerase II and negative elongation factors as part of P-TEFb. Rapidly proliferating cancers can depend on this activity to maintain short-lived survival transcripts, making CDK9 a therapeutic target. This analysis covers 581 CDK9 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes HIV infectious disease, Global developmental delay, and Intellectual disability. Example CDK9 variants include A2E, A2T, and A2S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CDK9 variants

Examples include A2E, A2T, A2S, A2V, A2G, A2A, A2D, A2P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.