CDK8

CDK8 (Cyclin Dependent Kinase 8) is a Protein Coding gene. Diseases associated with CDK8 include Colorectal Adenocarcinoma and Hemophagocytic Lymphohistiocytosis, Familial, 3. Among its related pathways are Signaling by NOTCH1 and Notch Signaling Pathway (sino). Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CDK19.

Full Name

Cyclin Dependent Kinase 8

Function

Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. Phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex. Phosphorylates CCNH leading to down-regulation of the TFIIH complex and transcriptional repression. Recruited through interaction with MAML1 to hyperphosphorylate the intracellular domain of NOTCH, leading to its degradation.

Biological Process

Positive regulation of transcription by RNA polymerase II Source: Reactome
Protein phosphorylation Source: GO_Central
Regulation of transcription initiation from RNA polymerase II promoter Source: Reactome

Cellular Location

Nucleus

Involvement in disease

Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA): An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding.