CAMKMT: Calcium/Calmodulin Dependent Protein Kinase Methyltransferase
A key regulator of calmodulin methylation and calcium signaling
Gene Information Card
| Symbol | CAMKMT |
|---|---|
| Full Name | Calcium/Calmodulin Dependent Protein Kinase Methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 2p21 |
| NCBI Gene ID | 79823 ncbi.nlm.nih.gov/gene/79823 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q7Z624 |
| OMIM ID | 615438 |
| HGNC ID | 26276 |
| Aliases | C2orf34, FLJ12671, calmodulin-lysine N-methyltransferase |
Description
CAMKMT encodes a methyltransferase that specifically methylates lysine 115 of calmodulin (CaM). This methylation is critical for the proper function of calmodulin in calcium signaling pathways, affecting downstream targets such as calcium/calmodulin-dependent protein kinases (CAMKs). The gene is located on chromosome 2p21 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function mutations in CAMKMT impair calmodulin methylation, disrupting calcium signaling and neuronal function. | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in CAMKMT have been associated with ASD, possibly through altered synaptic plasticity. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 5.1 | Low |
| Kidney | 7.9 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| SH-SY5Y | 14.3 | Neuroblastoma cells |
| HeLa | 6.8 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; truncated protein |
| c.632G>A (p.Arg211Gln) | Missense | Rare | Likely damaging; reduced methyltransferase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing calmodulin methylation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • methyltransferase activity (GO:0008168) | • calmodulin binding (GO:0005516) |
| • zinc ion binding (GO:0008270) | • methylation (GO:0032259) |
| • cytoplasm (GO:0005737) |
Pathways
• Calmodulin-dependent signaling
• Calcium signaling pathway
Protein Summary
CAMKMT is a 323-amino acid protein that functions as a calmodulin-lysine N-methyltransferase. It specifically trimethylates lysine 115 of calmodulin, a modification essential for calmodulin's ability to activate calcium/calmodulin-dependent protein kinases. The protein contains a methyltransferase domain and is localized in the cytoplasm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMKMT Knockout HEK293 Cell Line | EDJ-KQ12716 | Human | 79823 | Details Get a Quote |
| CAMKMT Knockout A-549 Cell Line | EDJ-KQ41801 | Human | 79823 | Details Get a Quote |
| CAMKMT Knockout HCT 116 Cell Line | EDJ-KQ41802 | Human | 79823 | Details Get a Quote |
| CAMKMT Knockout HeLa Cell Line | EDJ-KQ41803 | Human | 79823 | Details Get a Quote |
