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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CAMK4
calcium/calmodulin dependent protein kinase IV
Chromosome 5 Β· 5q22.1
NCBI Gene: 814Ensembl: ENSG00000152495.12HGNC: HGNC:1464UniProt: Q16566
103PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
myeloid dendritic cell differentiationpositive regulation of DNA-templated transcriptionfibrillar centerextracellular exosomeIntellectual disabilityhypothyroidismautismDystonia
✦AI Summary

CAMK4 (calcium/calmodulin-dependent protein kinase IV) is a versatile serine/threonine kinase that integrates calcium signaling into immune and neuronal functions 1. The kinase operates downstream of calcium/calmodulin activation to phosphorylate transcription factors including CREB1, MEF2D, and JUN, thereby regulating gene expression critical for immune responses and neuronal plasticity 2. In immune cells, CAMK4 promotes T-cell differentiation and IL-17 production in Th17 cells, with dysregulation implicated in autoimmune diseases including systemic lupus erythematosus 2. CAMK4 also regulates macrophage and keratinocyte function; deletion of Camk4 reduces psoriatic inflammation by enhancing IL-10 production and limiting pro-inflammatory gene expression 3. In the nervous system, CAMK4 contributes to synaptic plasticity and memory consolidation through calcium-dependent signaling pathways 1. Emerging evidence identifies CAMK4 as a convergence point for autism spectrum disorder pathogenesis, with both direct genetic variants and indirect effects through autism-associated genes disrupting CaMK4 signaling 4. Additionally, CAMK4 shows epigenetic regulation in skeletal muscle, maintaining hypomethylation signatures associated with muscle hypertrophy memory 5. These findings establish CAMK4 as a potential therapeutic target in autoimmune, inflammatory, neuropsychiatric, and muscle-related diseases.

Sources cited
1
CaMK4 is a versatile serine/threonine kinase regulating T-cell differentiation, podocyte function, tumor cell proliferation/apoptosis, and insulin sensitivity
PMID: 38615920
2
CaMK4 regulates gene expression by activating transcription factors in immune cells and plays important roles in Th17-driven autoimmune diseases
PMID: 29252071
3
CaMK4 expression is increased in psoriatic skin; Camk4 deletion reduces inflammation by enhancing IL-10 production by macrophages and inhibiting keratinocyte pro-inflammatory gene expression
PMID: 35869084
4
CAMK4 is an emerging risk gene for autism spectrum disorder encoding a key component of Ca2+-activated signaling pathways regulating neurodevelopment and synaptic plasticity
PMID: 39442785
5
CAMK4 maintains hypomethylated status and enhanced expression following muscle loading, indicating an epigenetic memory of hypertrophy
PMID: 29382913
Disease Associationsβ“˜20
Intellectual disabilityOpen Targets
0.53Moderate
hypothyroidismOpen Targets
0.48Moderate
autismOpen Targets
0.47Moderate
DystoniaOpen Targets
0.46Moderate
AtaxiaOpen Targets
0.46Moderate
Global developmental delayOpen Targets
0.46Moderate
Abnormality of movementOpen Targets
0.46Moderate
Atypical behaviorOpen Targets
0.46Moderate
cerebellar ataxiaOpen Targets
0.46Moderate
choreaOpen Targets
0.46Moderate
movement disorderOpen Targets
0.46Moderate
MyoclonusOpen Targets
0.46Moderate
myxedemaOpen Targets
0.41Moderate
thyroid diseaseOpen Targets
0.33Weak
autoimmune thyroid diseaseOpen Targets
0.33Weak
mathematical abilityOpen Targets
0.32Weak
PainOpen Targets
0.32Weak
Involuntary movementsOpen Targets
0.26Weak
osteitis deformansOpen Targets
0.25Weak
tympanic membrane perforationOpen Targets
0.23Weak
Pathogenic Variants2
NM_001744.6(CAMK4):c.981+1G>APathogenic
Intellectual disability;Involuntary movements|not provided
β˜…β˜†β˜†β˜†2025
NM_001744.6(CAMK4):c.929T>C (p.Met310Thr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 310
View on ClinVar β†—
Related Genes
HDAC4Protein interaction97%CREB1Protein interaction97%CREB3Protein interaction96%CREB3L1Protein interaction95%CAMKK1Protein interaction95%CAMKK2Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
84%
Liver
9%
Lung
6%
Ovary
4%
Heart
2%
Gene Interaction Network
Click a node to explore
CAMK4HDAC4CREB1CREB3CREB3L1CAMKK1CAMKK2
PROTEIN STRUCTURE
Preparing viewer…
PDB2W4O Β· 2.17 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.06Tolerant
Observed/Expected LoF0.56 [0.30–1.10]
RankingsWhere CAMK4 stands among ~20K protein-coding genes
  • #4,636of 20,598
    Most Researched103 Β· top quartile
  • #4,312of 5,498
    Most Pathogenic Variants2
  • #11,193of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedCAMK4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Resveratrol ameliorates polycystic ovary syndrome via transzonal projections within oocyte-granulosa cell communication.
PMID: 34976213
Theranostics Β· 2022
1.00
2
Calcium/calmodulin-dependent protein kinase IV promotes imiquimod-induced psoriatic inflammation via macrophages and keratinocytes in mice.
PMID: 35869084
Nat Commun Β· 2022
0.90
3
CaMK4: Structure, physiological functions, and therapeutic potential.
PMID: 38615920
Biochem Pharmacol Β· 2024
0.80
4
The role of CaMK4 in immune responses.
PMID: 29252071
Mod Rheumatol Β· 2018
0.70
5
Convergence on CaMK4: A Key Modulator of Autism-Associated Signaling Pathways in Neurons.
PMID: 39442785
Biol Psychiatry Β· 2025
0.60