CAMK2N1: Calcium/Calmodulin Dependent Protein Kinase II Inhibitor 1
A key regulator of CaMKII signaling in neuronal and cardiac tissues
Gene Information Card
| Symbol | CAMK2N1 |
|---|---|
| Full Name | Calcium/Calmodulin Dependent Protein Kinase II Inhibitor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 55450 ncbi.nlm.nih.gov/gene/55450 |
| Ensembl ID | ENSG00000162521 |
| UniProt ID | Q7Z7J9 |
| OMIM ID | 609970 |
| HGNC ID | 24179 |
| Aliases | CaMKIINalpha, CAMK2N, CaM-KIIN alpha |
Description
CAMK2N1 encodes a protein that specifically inhibits calcium/calmodulin-dependent protein kinase II (CaMKII). It is highly expressed in brain and heart, where it modulates CaMKII activity involved in synaptic plasticity, learning, memory, and cardiac function. Dysregulation of CAMK2N1 has been implicated in neurological disorders and cardiovascular diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Reduced CAMK2N1 expression may lead to CaMKII hyperactivity and tau hyperphosphorylation | PMID: 21533022 |
| Cardiac hypertrophy | Loss of CAMK2N1 enhances CaMKII signaling, promoting pathological hypertrophy | PMID: 23509157 |
| Schizophrenia | Altered CAMK2N1 levels associated with CaMKII dysregulation in prefrontal cortex | PMID: 24013609 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Heart | 38.7 | High |
| Skeletal muscle | 12.3 | Medium |
| Liver | 2.1 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.4 | High expression |
| HEK293 (embryonic kidney) | 8.9 | Moderate expression |
| H9c2 (cardiomyoblast) | 41.5 | High expression |
| HeLa (cervical carcinoma) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, reduced protein |
| c.124C>T (p.Arg42Trp) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CAMK2N1 are predicted to increase CaMKII activity, potentially contributing to cardiac hypertrophy and neurological disorders.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CAMK2N1.
Dominant Negative (DN)
No dominant-negative mutations have been described for CAMK2N1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CaMKII signaling pathway
• Long-term potentiation (LTP)
• Cardiac hypertrophy signaling
Protein Summary
CAMK2N1 encodes a 78-amino acid protein (CaMKIINalpha) that acts as a specific endogenous inhibitor of CaMKII. It binds to the catalytic domain of CaMKII, blocking its activity in a substrate-competitive manner. The protein is predominantly expressed in brain and heart, where it fine-tunes CaMKII-dependent phosphorylation events critical for synaptic plasticity, learning, memory, and cardiac contractility. Altered CAMK2N1 expression or function is linked to Alzheimer disease, cardiac hypertrophy, and schizophrenia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMK2N1 Knockout HEK293 Cell Line | EDJ-KQ51452 | Human | 55450 | Details Get a Quote |
| CAMK2N1 Knockout HeLa Cell Line | EDJ-KQ56586 | Human | 55450 | Details Get a Quote |
| CAMK2N1 Knockout A-549 Cell Line | EDJ-KQ65084 | Human | 55450 | Details Get a Quote |
| CAMK2N1 Knockout HCT 116 Cell Line | EDJ-KQ73531 | Human | 55450 | Details Get a Quote |
