Polo-Like Kinase 2

Alternative Names

  • PLK2
  • Serum-Inducible Kinase
  • SNK
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OMIM Number

607023

Gene Map Locus
5q11.2

Description

The PLK2 gene encodes a protein belonging to the polo family of serine/threonine protein kinases. Enzymes from this family function by phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. The PLK2 kinase is involved in several key biological processes such synaptic plasticity, memory formation, centriole replication, regulation of apoptosis and autophagy, Ras and Rap protein signal transduction and G1/S phase transition.  

Molecular Genetics

The PLK2 gene is located on the long arm of chromosome 5 at position 5q11.2. The gene spans a length of just 6 kb of DNA and its coding sequence is spread across 14 exons. The protein product encoded by this gene has a molecular mass of 78 kDa and is made up of 685 amino acids. The gene is found to be overexpressed in the fetal lung, kidney, spleen and heart as well as in the adult testis, spleen, putamen and occipital lobe.  

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Anazi et al. (2016) investigated the effectiveness of genomic tools as a first-tier test in the diagnosis of Intellectual Disability (ID) cases. A cohort of 337 ID patients were subjected to molecular karyotyping, exome sequencing and a multi-gene panel comprised of neurologically associated genes. Genomic tools were found to have a higher diagnostic yield than standard clinical evaluations (58% vs 16%). In a 5 year old Saudi girl, this approach helped uncover a homozygous c.272del (p.Gly91Valfs*9) mutation in the PLK2 gene. The patient was born to first-degree consanguineous parents and suffered from developmental delay, hypotonia, alopecia and bilateral strabismus.  The identified mutation was a loss-of-function variant, had a minor allele frequency <0.001 based on 1500 Saudi exomes, fully segregated with the phenotype and there were no other candidate variants. Furthermore, the authors noted that animal studies had implicated PLK2 in the regulation of homeostatic synaptic plasticity and memory formation. 

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