HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CAMKMT
calmodulin-lysine N-methyltransferase
Chromosome 2 · 2p21
NCBI Gene: 79823Ensembl: ENSG00000143919.16HGNC: HGNC:26276UniProt: Q7Z624
24PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmheat shock protein bindingprotein-containing complexcytoplasmcholelithiasisgallstoneshypotonia-cystinuria syndromeIrritability
✦AI Summary

CAMKMT (calmodulin-lysine N-methyltransferase) catalyzes trimethylation of lysine-116 in calmodulin, a key signaling protein involved in calcium-dependent cellular processes. The enzyme localizes to multiple cellular compartments including the nucleoplasm, cytoplasm, and nucleolus, where it participates in protein methylation and regulation of opsin-mediated signaling pathways 1. Clinically, CAMKMT is relevant to hypotonia-cystinuria syndrome, a rare neuromuscular disorder. Mutations in CAMKMT cause atypical hypotonia-cystinuria syndrome, distinguished from the classical form by preserved SLC3A1 function, featuring neonatal hypotonia, ptosis, feeding difficulties, and variable neuromuscular and autonomic manifestations 2. Genome-wide association studies have identified CAMKMT variants associated with anxiety disorder risk, particularly in European ancestry populations. The SNP rs1067327 within CAMKMT on chromosome 2 showed genome-wide significant association with anxiety disorder factor scores 3, with replication in independent military cohorts 4. However, a pilot study examining CAMKMT expression in depressed individuals found no significant differences compared to controls 5, suggesting phenotype-specific genetic effects. CAMKMT variants have also been identified in pharmacogenetic studies of dolutegravir exposure 6 and selection signatures in salt-adapted livestock 7, indicating broader biological relevance beyond neuropsychiatric function.

Sources cited
1
CAMKMT SNP rs1067327 on chromosome 2p21 showed genome-wide significant association with anxiety disorder factor scores (P=2.86 × 10^-9)
PMID: 26754954
2
CAMKMT variants in region 2p21 replicated association with shared anxiety disorder risk in European ancestry soldiers, with meta-analysis of STARRS and ANGST showing robust signal (p = 9.08×10^-11)
PMID: 31886626
3
CAMKMT mutations cause atypical hypotonia-cystinuria syndrome with neonatal hypotonia, ptosis, feeding difficulties, and neuromuscular manifestations
PMID: 28726805
4
No significant difference in CAMKMT gene expression was found between depressed patients and controls (p-value 0.150)
PMID: 34548933
5
ZBTB24 transcription factor targets CAMKMT for transcriptional repression
PMID: 30085123
6
CAMKMT rs343942 showed genome-wide significant association with dolutegravir plasma exposure variability (P = 2.4 × 10^-7)
PMID: 35512135
Disease Associationsⓘ21
cholelithiasisOpen Targets
0.44Moderate
gallstonesOpen Targets
0.39Weak
hypotonia-cystinuria syndromeOpen Targets
0.37Weak
IrritabilityOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.29Weak
obesityOpen Targets
0.28Weak
CholecystitisOpen Targets
0.27Weak
preeclampsiaOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.20Weak
familial long QT syndromeOpen Targets
0.10Weak
Alzheimer diseaseOpen Targets
0.10Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
Miyoshi myopathyOpen Targets
0.09Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
nerve plexus diseaseOpen Targets
0.07Suggestive
esophageal varicesOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.06Suggestive
Hypotonia-cystinuria syndromeUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KMT2AProtein interaction95%PPM1BProtein interaction94%SLC3A1Protein interaction94%PREPLProtein interaction94%DOT1LProtein interaction91%PLOD1Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
90%
Liver
53%
Ovary
47%
Heart
44%
Lung
43%
Gene Interaction Network
Click a node to explore
CAMKMTKMT2APPM1BSLC3A1PREPLDOT1LPLOD1
PROTEIN STRUCTURE
Preparing viewer…
PDB4PWY · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.64LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.20 [0.89–1.64]
RankingsWhere CAMKMT stands among ~20K protein-coding genes
  • #13,148of 20,598
    Most Researched24
  • #15,864of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedCAMKMT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Meta-analysis of genome-wide association studies of anxiety disorders.
PMID: 26754954
Mol Psychiatry · 2016
1.00
2
Genetic Biomarkers in Association with Depressive Disorder in UAE Residents: A Pilot Case Study.
PMID: 34548933
Oman Med J · 2021
0.90
3
Genome-wide association study of shared liability to anxiety disorders in Army STARRS.
PMID: 31886626
Am J Med Genet B Neuropsychiatr Genet · 2020
0.80
4
Genome-wide comparative analyses highlight selection signatures underlying saline adaptation in Chilika buffalo.
PMID: 38949516
Physiol Genomics · 2024
0.70
5
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
PMID: 28726805
Genet Med · 2018
0.60