DCLK2

Chr 4

doublecortin like kinase 2

Also known as: CL2, CLICK-II, CLICK2, CLIK2, DCAMKL2, DCDC3, DCDC3B, DCK2

NCBI Gene: 166614 ENSG00000170390 UniProt: Q8N568 OMIM: 613166

The protein contains doublecortin domains that bind microtubules and regulate microtubule polymerization, plus a serine/threonine protein kinase domain with calcium/calmodulin-dependent activity. Mutations cause lissencephaly with severe epilepsy and early lethality, following an autosomal recessive inheritance pattern. This represents a critical neurodevelopmental disorder affecting cortical formation during fetal brain development.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. Mouse studies show that the DCX gene, another family member, and this gene share function in the establishment of hippocampal organization and that their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Sep 2010]

OMIM ResearchGenerating clinical summary…

LOEUF 0.33

Clinical Summary— DCLK2

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.96). One damaged copy is likely sufficient to cause disease.

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