DISEASES

Disease-gene associations mined from literature

Literature associating CDK8 and familial hemophagocytic lymphohistiocytosis 3

CDK8 [ENSP00000370938]

Mediator of RNA polymerase II transcription subunit CDK8; 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 preinitiation 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; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.

Synonyms:  CDK8,  CDK8p,  hCDK8,  B4DL75,  F5H6D4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM