BRSK2

Chr 11

BR serine/threonine kinase 2

Also known as: C11orf7, PEN11B, SAD-A, SAD1, SADA, STK29

NCBI Gene: 9024 ENSG00000174672 UniProt: Q8IWQ3

This serine/threonine protein kinase regulates neuronal polarization and axon formation by phosphorylating microtubule-associated proteins, and also controls cell cycle progression and insulin secretion. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and seizures. The gene is highly constrained against loss-of-function variants (pLI = 0.95), indicating that heterozygous mutations are likely pathogenic.

ResearchSummary from RefSeq, UniProt

Enables several functions, including ATP binding activity; ATPase binding activity; and magnesium ion binding activity. Involved in several processes, including G2/M transition of mitotic cell cycle; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in centrosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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