Cyclin-Dependent Kinase 6

Alternative Names

  • CDK6
  • Plstire
  • CDK6/MLL Fusion Gene
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OMIM Number

603368

NCBI Gene ID

1021

Uniprot ID

Q00534

Length

231,653 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Cyclin-dependent kinase 6

Molecular Mass

36938 Da

Amino Acid Count

326

Genomic Location

chr7:92,604,920-92,836,572

Gene Map Locus
7q21.2

Description

The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001259.8:c.234-4225G>AUnited Arab EmiratesNC_000007.14:g.92779056C>TNG_015888.1:g.62572G>A; NM_001259.8:c.234-4225G>A; NP_001250.1:p.?445
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