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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CAMKV
CaM kinase like vesicle associated
Chromosome 3 · 3p21.31
NCBI Gene: 79012Ensembl: ENSG00000164076.18HGNC: HGNC:28788UniProt: A0A140VKD5
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmsynapsesignal transductioncalmodulin bindingAbnormality of the skeletal systemsmoking cessationAlzheimer diseaseneurodegenerative disease
✦AI Summary

CAMKV (calmodulin kinase-like vesicle-associated protein) is a synaptic protein that binds calmodulin in the presence of calcium but lacks detectable kinase activity 1, distinguishing it from other calmodulin kinase family members 2. The protein localizes to neuronal cell membranes and synapses, where it appears to participate in calcium-dependent signal transduction 2. CAMKV has emerged as a paraneoplastic autoimmune encephalitis antigen, with IgG antibodies targeting CAMKV associated with subacute neurological disease characterized by altered mental status, seizures, hyperkinetic movements, and mesial temporal lobe abnormalities 1. CAMKV-positive encephalitis shows strong associations with uterine adenocarcinoma and responsiveness to immunotherapy, though prognosis depends on concurrent malignancy 1. Beyond autoimmunity, CAMKV has genetic relevance to cognitive function; brain expression variants show causal associations with cognitive performance in Mendelian randomization analyses 3. Additionally, CAMKV variants represent putative genetic susceptibility loci for post-traumatic stress disorder identified through genome-wide association studies 4. The protein's expression in MYCN-amplified neuroblastomas makes it a candidate immunotherapeutic target in cancer 2. These diverse associations suggest CAMKV functions at the intersection of synaptic signaling, neurological autoimmunity, and neuropsychiatric disease pathogenesis.

Sources cited
1
CAMKV is a synaptic protein that binds calmodulin, lacks kinase activity, and is an autoimmune encephalitis antigen associated with paraneoplastic disease, seizures, altered mental status, and uterine cancer
PMID: 38634529
2
CAMKV binds calmodulin but lacks kinase activity; it is a membranous protein in MYCN-amplified neuroblastomas regulated by MYCN transcription factor
PMID: 32211329
3
Brain CAMKV expression variants show causal associations with cognitive performance in Mendelian randomization analysis
PMID: 40562807
4
CAMKV gene variants are among highly promising loci identified in PTSD genome-wide association studies
PMID: 30350223
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.38Weak
smoking cessationOpen Targets
0.18Weak
Alzheimer diseaseOpen Targets
0.17Weak
neurodegenerative diseaseOpen Targets
0.17Weak
asthmaOpen Targets
0.16Weak
gastroesophageal reflux diseaseOpen Targets
0.15Weak
ulcerative colitisOpen Targets
0.15Weak
osteoarthritisOpen Targets
0.14Weak
osteoarthritis, spineOpen Targets
0.12Weak
obesityOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
hypertensionOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
PainOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
neuroblastomaOpen Targets
0.06Suggestive
health study participationOpen Targets
0.06Suggestive
Knee painOpen Targets
0.05Suggestive
Abnormality of refractionOpen Targets
0.05Suggestive
essential hypertensionOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AGAP1Shared pathway50%NXPH1Shared pathway50%AKAP7Shared pathway50%LRFN2Shared pathway33%NXPH4Shared pathway33%LUZP4Co-mentioned in literature30%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
3%
Ovary
0%
Lung
0%
Liver
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CAMKVAGAP1NXPH1AKAP7LRFN2NXPH4LUZP4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NCB2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.20Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.05–0.20]
RankingsWhere CAMKV stands among ~20K protein-coding genes
  • #13,612of 20,598
    Most Researched22
  • #462of 17,882
    Most Constrained (LOEUF)0.20 · top 5%
Genes detectedCAMKV
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autoimmune brainstem encephalitis: Clinical associations, outcomes, and proposed diagnostic criteria.
PMID: 39708293
Ann Clin Transl Neurol · 2025
1.00
2
Autoimmune encephalitis: recovery, residual symptoms and predictors of long-term sequelae.
PMID: 39832911
J Neurol Neurosurg Psychiatry · 2025
0.90
3
Paraneoplastic Calmodulin Kinase-Like Vesicle-Associated Protein (CAMKV) Autoimmune Encephalitis.
PMID: 38634529
Ann Neurol · 2024
0.80
4
Brain atrophy patterns in anti-IgLON5 disease.
PMID: 40650880
Brain · 2026
0.70
5
Exploring autoantigens in autoimmune limbic encephalitis using phage immunoprecipitation sequencing.
PMID: 40133514
J Neurol · 2025
0.60