SIK1

Chr 21AD

salt inducible kinase 1

Also known as: DEE30, MSK, SIK, SIK-1, SIK1B, SNF1LK

NCBI Gene: 150094 ENSG00000142178 UniProt: P57059 OMIM: 605705

The protein is a serine/threonine kinase containing a ubiquitin-associated domain and functions as a member of the AMPK subfamily involved in cellular signal transduction pathways. Mutations cause developmental and epileptic encephalopathy 30, which follows an autosomal dominant inheritance pattern. The high pLI score (0.94) and low LOEUF score (0.34) indicate the gene is highly intolerant to loss-of-function variants, suggesting haploinsufficiency as the likely mechanism of pathogenicity.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 30MIM #616341

Clinical highlights

Gene-disease validity (ClinGen)

genetic developmental and epileptic encephalopathy · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

GOF

Mechanism· G2P