CCNK

Function

Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A).

Involvement in disease

Intellectual developmental disorder with hypertelorism and distinctive facies

IDDHDF

An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the cyclin family. Cyclin C subfamily.

Tissue Specificity

Widely expressed. Highest levels in testis.

Cellular localization

• Nucleus

Alternative names

CPR4, CCNK, Cyclin-K

Database links

swissprot:O75909 omim:603309 entrezGene:8621 omim:603544 swissprot:Q14004 swissprot:Q9NYV4 entrezGene:8812