DYRK2

Chr 12

dual specificity tyrosine phosphorylation regulated kinase 2

NCBI Gene: 8445 ENSG00000127334 UniProt: Q92630 OMIM: 603496

DYRK2 encodes a serine/threonine protein kinase that regulates mitotic cell cycle progression, cell proliferation, apoptosis, and neurite outgrowth through phosphorylation of multiple substrates including p53, tau, and cytoskeletal proteins. Mutations cause autosomal dominant intellectual disability and developmental delay, often with microcephaly and growth retardation. The gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.17), indicating that complete loss of function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· predicted