CAMK2B Gene - Calcium/Calmodulin Dependent Protein Kinase II Beta
Genetic, Structural, and Clinical Insights into CAMK2B
Gene Information Card
| Symbol | CAMK2B |
|---|---|
| Full Name | Calcium/calmodulin dependent protein kinase II beta |
| Gene Type | Protein coding |
| Chromosomal Location | 7p13 |
| NCBI Gene ID | 816 ncbi.nlm.nih.gov/gene/816 |
| Ensembl ID | ENSG00000058404 |
| UniProt ID | Q13554 |
| OMIM ID | 607707 |
| HGNC ID | 1461 |
| Aliases | CAM2, CAMK2, CAMKB, MGC29528 |
Description
The CAMK2B gene encodes the beta subunit of calcium/calmodulin-dependent protein kinase II (CaMKII), a multifunctional serine/threonine kinase that plays a critical role in neuronal signaling, synaptic plasticity, and memory formation. CaMKII is a holoenzyme composed of multiple subunits, with the beta subunit being essential for targeting the kinase to actin and regulating its subcellular localization. Mutations in CAMK2B have been associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 55 | Heterozygous missense mutations in CAMK2B lead to altered kinase activity, affecting synaptic plasticity and cognitive function. | ClinVar, OMIM |
| Autism spectrum disorder | De novo mutations in CAMK2B have been identified in individuals with ASD, suggesting a role in neuronal connectivity and social behavior. | ClinVar, PubMed |
| Epilepsy | Some CAMK2B mutations are associated with epileptic encephalopathy, likely due to disrupted neuronal excitability and synaptic transmission. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | High |
| Heart | 4.2 | Low |
| Skeletal Muscle | 3.1 | Low |
| Liver | 1.0 | Not detected |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | High expression; used as neuronal model |
| U-87 MG (glioblastoma) | 12.3 | Moderate expression |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.445C>T (p.Arg149Trp) | Missense | Rare (de novo) | Impaired kinase activity, associated with intellectual disability |
| c.746G>A (p.Arg249His) | Missense | Rare (de novo) | Altered calcium/calmodulin binding, linked to autism |
| c.1003A>G (p.Thr335Ala) | Missense | Not reported | Potential gain-of-function, increased autophosphorylation |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations reduce kinase activity, impairing synaptic plasticity and cognitive function.
Gain of Function (GOF)
Gain-of-function mutations enhance kinase activity, potentially leading to hyperexcitability and epilepsy.
Dominant Negative (DN)
Dominant-negative mutations disrupt holoenzyme assembly, interfering with normal CaMKII function.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • calmodulin binding |
| • calcium ion binding | • protein serine/threonine kinase activity |
| • calmodulin-dependent protein kinase activity | • signal transduction |
| • synaptic transmission | • regulation of synaptic plasticity |
| • dendrite development | • neuron projection development |
Pathways
• Calcium signaling pathway
• Long-term potentiation
• Neurotrophin signaling pathway
• Wnt signaling pathway
• ErbB signaling pathway
• Gap junction
• Oocyte meiosis
Protein Summary
The CAMK2B protein is a 542-amino acid subunit of CaMKII, characterized by an N-terminal catalytic domain, a central regulatory domain with autophosphorylation sites, and a C-terminal association domain that mediates holoenzyme formation. The beta subunit is unique in containing an actin-binding domain that targets the kinase to the cytoskeleton, crucial for dendritic spine morphology and synaptic plasticity. Post-translational modifications, including autophosphorylation at Thr287, regulate its calcium-independent activity, essential for long-term potentiation and memory consolidation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMK2B Knockout HEK293 Cell Line | EDJ-KQ283 | Human | 816 | Details Get a Quote |
| CAMK2B Knockout HeLa Cell Line | EDJ-KQ52785 | Human | 816 | Details Get a Quote |
| CAMK2B Knockout A-549 Cell Line | EDJ-KQ61254 | Human | 816 | Details Get a Quote |
| CAMK2B Knockout HCT 116 Cell Line | EDJ-KQ69750 | Human | 816 | Details Get a Quote |
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