CAMK4 Gene: Calcium/Calmodulin-Dependent Protein Kinase IV
A key regulator of neuronal and immune signaling, implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | CAMK4 |
|---|---|
| Full Name | calcium/calmodulin dependent protein kinase IV |
| Gene Type | protein coding |
| Chromosomal Location | 5q21.3 |
| NCBI Gene ID | 814 ncbi.nlm.nih.gov/gene/814 |
| Ensembl ID | ENSG00000152495 |
| UniProt ID | Q16566 |
| OMIM ID | 114080 |
| HGNC ID | 1464 |
| Aliases | CaMK IV, caMKIV, brain Ca(2+)-calmodulin-dependent protein kinase type IV |
Description
CAMK4 encodes calcium/calmodulin-dependent protein kinase IV, a serine/threonine kinase that is activated by calcium-calmodulin and phosphorylated by CAMKK. It plays a critical role in neuronal signaling, synaptic plasticity, learning and memory, and immune cell function. CAMK4 regulates transcription factors such as CREB and MEF2, influencing gene expression in response to calcium signals. It is also involved in T-cell activation and has been implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function mutations impair CREB signaling and neuronal plasticity | ClinVar, OMIM |
| Autism spectrum disorder | De novo variants affecting kinase activity | ClinVar, literature |
| Breast cancer | Overexpression promotes cell proliferation and migration | COSMIC, literature |
| Prostate cancer | Upregulation linked to androgen receptor signaling | COSMIC, literature |
| Systemic lupus erythematosus | Altered CAMK4 expression affects T-cell function | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 4.1 | Low |
| Liver | 2.0 | Not detected |
| Kidney | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| Jurkat (T-cell leukemia) | 10.8 | Moderate expression |
| MCF7 (breast cancer) | 6.3 | Low expression |
| HeLa (cervical cancer) | 3.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg307* | Nonsense | Rare | Loss of kinase domain, likely loss-of-function |
| p.Gly109Asp | Missense | Rare | Impaired ATP binding, reduced activity |
| p.Val180Ile | Missense | Somatic (cancer) | Potential gain-of-function in cancer |
| p.Pro341Leu | Missense | Somatic (cancer) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or reduced kinase activity, associated with neurodevelopmental disorders.
Gain of Function (GOF)
Missense mutations in cancer that increase kinase activity or stability, promoting cell proliferation.
Dominant Negative (DN)
Not well documented; some missense mutations may interfere with wild-type function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • calcium/calmodulin-dependent protein kinase activity | • ATP binding |
| • protein serine/threonine kinase activity | • calmodulin binding |
| • regulation of transcription | • DNA-templated |
| • signal transduction | • nervous system development |
| • T cell activation |
Pathways
• Calcium signaling pathway
• Neurotrophin signaling pathway
• T cell receptor signaling pathway
• CREB phosphorylation pathway
• Long-term potentiation
Protein Summary
CAMK4 is a 473-amino acid protein with a serine/threonine kinase domain, a calmodulin-binding domain, and an autoinhibitory domain. It is predominantly expressed in the brain and thymus. Upon calcium influx, calmodulin binds and activates CAMK4, which then phosphorylates transcription factors like CREB, ATF1, and MEF2, regulating genes involved in synaptic plasticity and immune responses. CAMK4 also phosphorylates HDAC4, leading to its nuclear export and derepression of MEF2 targets. In cancer, CAMK4 overexpression can drive tumorigenesis through aberrant transcriptional programs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMK4 Knockout HEK293 Cell Line | EDJ-KQ1455 | Human | 814 | Details Get a Quote |
| CAMK4 Knockout HCT 116 Cell Line | EDJ-KQ21012 | Human | 814 | Details Get a Quote |
| CAMK4 Knockout HeLa Cell Line | EDJ-KQ19680 | Human | 814 | Details Get a Quote |
| CAMK4 Knockout A-549 Cell Line | EDJ-KQ61252 | Human | 814 | Details Get a Quote |
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