BRSK2
BR serine/threonine kinase 2
Gene Information Card
| Symbol | BRSK2 |
|---|---|
| Full Name | BR serine/threonine kinase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 9024 ncbi.nlm.nih.gov/gene/9024 |
| Ensembl ID | ENSG00000174697 |
| UniProt ID | Q8IWQ3 |
| OMIM ID | 609211 |
| HGNC ID | 18991 |
| Aliases | SAD1, SAD-B, STK29, BRSK2 |
Description
BRSK2 (BR serine/threonine kinase 2) encodes a member of the AMPK-related family of serine/threonine kinases. The protein is highly expressed in the brain and plays a critical role in neuronal polarization, axon formation, and synaptic function. It is activated by phosphorylation via LKB1 and regulates microtubule dynamics and cell cycle progression. BRSK2 has also been implicated in insulin secretion and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function mutations in BRSK2 impair neuronal polarity and synaptic signaling | ClinVar, OMIM |
| Autism spectrum disorder | De novo missense variants disrupt kinase activity and neuronal development | ClinVar, OMIM |
| Diabetes (type 2) | BRSK2 regulates insulin granule exocytosis in pancreatic beta cells | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 56.3 | High |
| Testis | 12.1 | Medium |
| Pancreas | 8.5 | Medium |
| Kidney | 4.2 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.7 | High expression |
| HeLa (cervical carcinoma) | 12.3 | Moderate expression |
| HEK293 (embryonic kidney) | 8.9 | Moderate expression |
| MCF7 (breast cancer) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Loss of kinase activity; associated with intellectual disability |
| c.157G>A (p.Glu53Lys) | Missense | De novo | Impaired autophosphorylation; linked to autism |
| c.1234delC (p.Leu412Trpfs*5) | Frameshift | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the kinase domain or disrupt ATP binding lead to loss of catalytic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in BRSK2.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with dimerization or substrate binding, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004674 (protein serine/threonine kinase activity) | • GO:0005524 (ATP binding) |
| • GO:0006468 (protein phosphorylation) | • GO:0007409 (axonogenesis) |
| • GO:0031175 (neuron projection development) | • GO:0018105 (peptidyl-serine phosphorylation) |
| • GO:0046777 (protein autophosphorylation) |
Pathways
• AMPK signaling pathway (Reactome: R-HSA-380952)
• LKB1 signaling events (Reactome: R-HSA-5628897)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
BRSK2 is a 741-amino acid serine/threonine kinase belonging to the AMPK-related kinase family. It contains an N-terminal kinase domain and a C-terminal regulatory domain. The protein is activated by LKB1-mediated phosphorylation at Thr174. BRSK2 localizes to the cytoplasm and is enriched in neuronal growth cones, where it phosphorylates microtubule-associated proteins such as Tau and MAP2 to regulate axon specification and elongation. It also modulates insulin secretion in pancreatic beta cells via phosphorylation of synapsin I.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRSK2 Knockout HEK293 Cell Line | EDJ-KQ2512 | Human | 9024 | Details Get a Quote |
| BRSK2 Knockout A-549 Cell Line | EDJ-KQ23118 | Human | 9024 | Details Get a Quote |
| BRSK2 Knockout HCT 116 Cell Line | EDJ-KQ21756 | Human | 9024 | Details Get a Quote |
| BRSK2 Knockout HeLa Cell Line | EDJ-KQ55057 | Human | 9024 | Details Get a Quote |
| BRSK2 Knockout HAP1 Cell Line | EDC07918 | Human | 9024 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
