Cyclin-Dependent Kinase-Like 5

Alternative Names

  • CDKL5
  • Serine/Threonine Protein Kinase 9
  • STK9
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OMIM Number

300203

NCBI Gene ID

6792

Uniprot ID

O76039

Length

235,276 bases

No. of Exons

23

No. of isoforms

2

Protein Name

Cyclin-dependent kinase-like 5

Molecular Mass

115538 Da

Amino Acid Count

1030

Genomic Location

chrX:18,425,583-18,660,858

Gene Map Locus
Xp22.13

Description

The CDKL5 gene encodes an enzyme belonging to the serine/threonine kinase family.  The enzyme is responsible for the phosphorylation of MECP2, a protein involved in the maintenance of synapses between neurons.  While the other targets of the CDKL5 kinase are not yet known, the enzyme is believed to play a role in neuron migration, dendrite morphogenesis and axon extension.

The gene has been implicated in Epileptic Encephalopathy, Early Infantile, 2 (EIEE2), a neurologic disorder characterized by severe global developmental delay, infantile-onset seizures and mental retardation. 

Molecular Genetics

The CDKL5 gene is located on the short arm of the X chromosome at position Xp22.13.  It spans a length of 235 kb of DNA and its coding sequence is spread across 23 exons.  The protein encoded by the gene has a molecular mass of 115 kDa and consists of 1030 amino acids.  An additional isoform of the CDKL5 protein exists due to alternative splicing and contains 960 amino acids.  The gene is found to be expressed in the brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.  

Variants associated with EIEE2 include missense mutations, slice site mutations, deletions and insertions that either alter the function of the CDKL5 protein or result in its absence. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001323289.2:c.593G>AUnited Arab EmiratesNC_000023.11:g.18587992G>ALikely PathogenicPathogenicEpileptic Encephalopathy, Early Infantile, 2NG_008475.1:g.167388G>A; NM_001323289.2:c.593G>A; NP_003150.1:p.Gly198Asp19256969591006298
NM_003159.3:c.229_232delUnited Arab EmiratesNC_000023.11:g.18575433GAAG[1]PathogenicLikely PathogenicEpileptic Encephalopathy, Early Infantile, 2NG_008475.1:g.154829GAAG[1]; NM_003159.3:c.229_232del; NP_003150.1:p.Glu77HisfsTer35267608441143799
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