Cyclin-Dependent Kinase 13

Alternative Names

  • CDK13
  • Cell Division Cycle 2-Like 5
  • CDC2l5
  • Cell Division Controller, Cholinesterase-Related
  • CHED
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OMIM Number

603309

NCBI Gene ID

8621

Uniprot ID

Q14004

Length

149,325 bases

No. of Exons

16

No. of isoforms

2

Protein Name

Cyclin-dependent kinase 13

Molecular Mass

164923 Da

Amino Acid Count

1512

Genomic Location

chr7:39,950,256-40,099,580

Gene Map Locus
7p14.1

Description

The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003718.5:c.1499C>TUnited Arab EmiratesNC_000007.14:g.39987886C>TLikely BenignLikely PathogenicCongenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental DisorderNG_052965.1:g.42527C>T; NM_003718.5:c.1499C>T; NP_003709.3:p.Thr500Met9229430451133176
NM_003718.5:c.2134G>AUnited Arab EmiratesNC_000007.14:g.39999452G>ALikely PathogenicCongenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental DisorderNG_052965.1:g.54093G>A; NM_003718.5:c.2134G>A; NP_003709.3:p.Gly712Arg
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