BRSK2 Chromosome 11
BR serine/threonine kinase 2
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What This Gene Does
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]
Gene Info
Gene Group
BR serine/threonine kinases
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000174672
Associated Conditions (5)
See cases
Inborn genetic diseases
BRSK2-related disorder
Neurodevelopmental delay
Neurodevelopmental disorder
Key Variants
RS2539768600
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS531413807
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1135402760
Likely pathogenic
Health Risk
RS1288997339
Likely pathogenic
Health Risk
RS1554904772
Likely pathogenic
Health Risk
RS1851486514
Likely pathogenic
BRSK2-related disorder, BRSK2-related disorder
Health Risk
RS2133098428
Likely pathogenic
Health Risk
RS2133297645
Likely pathogenic
Health Risk
RS2538908846
Likely pathogenic
Health Risk
RS2539538016
Likely pathogenic
Health Risk
RS2539739333
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2539740546
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2539768600 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS531413807 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1135402760 | Health Risk | Likely pathogenic | — |
| RS1288997339 | Health Risk | Likely pathogenic | — |
| RS1554904772 | Health Risk | Likely pathogenic | — |
| RS1851486514 | Health Risk | Likely pathogenic | BRSK2-related disorder, BRSK2-related disorder |
| RS2133098428 | Health Risk | Likely pathogenic | — |
| RS2133297645 | Health Risk | Likely pathogenic | — |
| RS2538908846 | Health Risk | Likely pathogenic | — |
| RS2539538016 | Health Risk | Likely pathogenic | — |
| RS2539739333 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2539740546 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1193156869 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554904159 | Health Risk | Pathogenic | — |
| RS1554906003 | Health Risk | Pathogenic | — |
| RS2539494403 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2539547016 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS996650766 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2133120033 | Health Risk | Pathogenic/Likely pathogenic | BRSK2-related disorder, BRSK2-related disorder |