CCNK gene

cyclin K

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008]

From UniProt:

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).

From NCBI Gene:

  • INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES

From UniProt:

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. [MIM:618147]

Cytogenetic Location: 14q32.2, which is the long (q) arm of chromosome 14 at position 32.2

Molecular Location: base pairs 99,481,402 to 99,511,515 on chromosome 14 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 14q32.2, which is the long (q) arm of chromosome 14 at position 32.2
  • CPR4
  • IDDHDF