HIPK3

Chr 11

homeodomain interacting protein kinase 3

Also known as: DYRK6, FIST3, PKY, YAK1

NCBI Gene: 10114 ENSG00000110422 UniProt: Q9H422 OMIM: 604424

The protein is a serine/threonine kinase that regulates transcription, apoptosis, and steroidogenic gene expression by phosphorylating key targets including JUN, RUNX2, and NR5A1. Mutations cause autosomal recessive intellectual disability with developmental delay, seizures, and dysmorphic features. This gene is highly constrained against loss-of-function variants (LOEUF 0.367), suggesting that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein serine/threonine kinase activity. Involved in mRNA transcription; negative regulation of apoptotic process; and protein phosphorylation. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Jun 2026]

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

0.37

LOEUF

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Mechanism