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GeneE
26 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.
CAMK2A
calcium/calmodulin dependent protein kinase II alpha
Chromosome 5 Β· 5q32
NCBI Gene: 815Ensembl: ENSG00000070808.17HGNC: HGNC:1460UniProt: A0A5F9ZH21
228PubMed Papers
22Diseases
0Drugs
29Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneKinase
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of canonical NF-kappaB signal transductionpositive regulation of receptor signaling pathway via JAK-STATdendritic spinecalcium- and calmodulin-dependent protein kinase complexintellectual disability, autosomal dominant 53Intellectual disabilityintellectual disability, autosomal recessive 63smoking initiation
✦AI Summary

CAMK2A is a calcium/calmodulin-dependent protein kinase that functions as a central regulator of synaptic plasticity and neuronal development. Upon Ca2+/calmodulin binding and autophosphorylation, CAMK2A autonomously regulates long-term potentiation, synaptic transmission, and dendritic spine development 12. The kinase is essential for proper neuronal migration during brain development, with mutations affecting CAMK2A autophosphorylation at Thr286 impairing this process 3. Beyond synaptic functions, CAMK2A participates in interferon signaling, phosphorylating STAT1 in response to IFN-gamma stimulation to activate JAK-STAT pathways and promote ferroptosis inhibition 45. Clinically, de novo CAMK2A mutations cause intellectual disability and neurodevelopmental disorders, establishing the kinase's critical role in human brain function 3. CAMK2A dysfunction contributes to cardiac pathology through O-GlcNAcylation-mediated metabolic memory in diabetes, driving endothelial secretion of pathogenic extracellular vesicles that damage cardiomyocytes 6. Additionally, CAMK2A expression in hippocampal neurons modulates pain-related anxiety and depression through excitatory synaptic transmission to prefrontal corticotropin-releasing hormone neurons 7. Gene therapy approaches exploiting CAMK2A promoter specificity show promise for treating focal cortical dysplasia-related seizures 8, and CAMK2A stabilization participates in pathological macrophage polarization in smoking-induced emphysema 9.

Sources cited
1
CAMK2A functions in synaptic plasticity, neurotransmitter release, and long-term potentiation after autophosphorylation
PMID: 14722083
2
CAMK2A regulates dendritic spine development
PMID: 28130356
3
De novo CAMK2A mutations cause intellectual disability; mutations affecting autophosphorylation at Thr286 impair neuronal migration
PMID: 29100089
4
CAMK2A phosphorylates STAT1 in response to IFN-gamma stimulation to activate JAK-STAT signaling
PMID: 11972023
5
CAMK2A phosphorylates PSAT1 in response to IFN-gamma, inhibiting ferroptosis by promoting GPX4 stability
PMID: 40281343
6
Diabetes-induced O-GlcNAcylation sustains CAMK2A activation in endothelial cells, driving pathogenic sEV miR-15-16 release and cardiac dysfunction
PMID: 40179889
7
CAMK2A expression in ventral hippocampal neurons mediates pain-related anxiodepression through synaptic transmission to prefrontal CRH neurons
PMID: 38241377
8
CAMK2A promoter used to drive neuron-specific expression of anti-seizure gene therapy in focal cortical dysplasia models
PMID: 38100333
9
circADAMTS6 stabilizes CAMK2A mRNA to drive M2 macrophage polarization in smoking-induced emphysema
PMID: 38936066
Disease Associationsβ“˜22
intellectual disability, autosomal dominant 53Open Targets
0.80Strong
Intellectual disabilityOpen Targets
0.66Moderate
intellectual disability, autosomal recessive 63Open Targets
0.44Moderate
smoking initiationOpen Targets
0.40Weak
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
inflammatory bowel diseaseOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.33Weak
ulcerative colitisOpen Targets
0.29Weak
Global developmental delayOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
autism spectrum disorderOpen Targets
0.14Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.11Weak
atrial fibrillationOpen Targets
0.10Weak
Alzheimer diseaseOpen Targets
0.10Weak
hereditary attention deficit-hyperactivity disorderOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.09Suggestive
Intellectual developmental disorder, autosomal dominant 53UniProt
Intellectual developmental disorder, autosomal recessive 63UniProt
Pathogenic Variants29
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)Pathogenic
Intellectual disability, autosomal dominant 53|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 259
NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu)Pathogenic
Intellectual disability|not provided|Intellectual disability, autosomal dominant 53
β˜…β˜…β˜†β˜†2024β†’ Residue 212
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys)Likely pathogenic
Intellectual disability, autosomal dominant 53|Global developmental delay
β˜…β˜…β˜†β˜†2019β†’ Residue 17
NM_015981.4(CAMK2A):c.325G>A (p.Glu109Lys)Likely pathogenic
Intellectual disability, autosomal dominant 53
β˜…β˜†β˜†β˜†2026β†’ Residue 109
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)Pathogenic
Intellectual disability, autosomal dominant 53;Intellectual disability, autosomal recessive 63|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 74
NM_015981.4(CAMK2A):c.901G>A (p.Gly301Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 301
NM_015981.4(CAMK2A):c.1219C>T (p.Arg407Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 407
NM_015981.4(CAMK2A):c.290T>C (p.Leu97Pro)Likely pathogenic
Intellectual disability, autosomal recessive 63
β˜…β˜†β˜†β˜†2023β†’ Residue 97
NM_015981.4(CAMK2A):c.857C>A (p.Thr286Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 286
NM_015981.4(CAMK2A):c.851_857delinsTGCATG (p.Gln284fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 284
NM_015981.4(CAMK2A):c.666C>A (p.Tyr222Ter)Pathogenic
Intellectual disability, autosomal dominant 53
β˜…β˜†β˜†β˜†2021β†’ Residue 222
NM_015981.4(CAMK2A):c.755T>C (p.Leu252Pro)Likely pathogenic
Intellectual disability, autosomal dominant 53
β˜…β˜†β˜†β˜†2020β†’ Residue 252
NM_015981.4(CAMK2A):c.59G>A (p.Gly20Asp)Likely pathogenic
Intellectual disability, autosomal dominant 53
β˜…β˜†β˜†β˜†2020β†’ Residue 20
NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)Likely pathogenic
Intellectual disability, autosomal dominant 53
β˜…β˜†β˜†β˜†2020β†’ Residue 139
NM_015981.4(CAMK2A):c.502C>T (p.Gln168Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 168
NM_015981.4(CAMK2A):c.809G>A (p.Trp270Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 270
NM_015981.4(CAMK2A):c.902G>A (p.Gly301Glu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 301
NM_015981.4(CAMK2A):c.524G>C (p.Gly175Ala)Likely pathogenic
Intellectual disability, autosomal dominant 53
β˜…β˜†β˜†β˜†β†’ Residue 175
NM_015981.4(CAMK2A):c.785_790del (p.Ala262_Ala263del)Likely pathogenic
Intellectual disability, autosomal dominant 53
β˜…β˜†β˜†β˜†β†’ Residue 262
NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser)Pathogenic
Intellectual disability, autosomal dominant 53|Intellectual disability
β˜†β˜†β˜†β˜†2022β†’ Residue 98
View on ClinVar β†—
Related Genes
ACTN2Protein interaction100%ADCY2Protein interaction100%STAT1Protein interaction100%EP300Protein interaction100%SCN5AProtein interaction100%RYR2Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
9%
Lung
1%
Ovary
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CAMK2AACTN2ADCY2STAT1EP300SCN5ARYR2
PROTEIN STRUCTURE
Preparing viewer…
PDB6X5G Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.19Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.06–0.19]
RankingsWhere CAMK2A stands among ~20K protein-coding genes
  • #1,767of 20,598
    Most Researched228 Β· top 10%
  • #1,832of 5,498
    Most Pathogenic Variants29
  • #378of 17,882
    Most Constrained (LOEUF)0.19 Β· top 5%
Genes detectedCAMK2A
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
O-GlcNAcylation-mediated endothelial metabolic memory contributes to cardiac damage via small extracellular vesicles.
PMID: 40179889
Cell Metab Β· 2025
1.00
2
Anti-seizure gene therapy for focal cortical dysplasia.
PMID: 38100333
Brain Β· 2024
0.90
3
Corticotropin-releasing hormone neurons control trigeminal neuralgia-induced anxiodepression via a hippocampus-to-prefrontal circuit.
PMID: 38241377
Sci Adv Β· 2024
0.80
4
Role of CAMK2D in neurodevelopment and associated conditions.
PMID: 38272033
Am J Hum Genet Β· 2024
0.70
5
A mitochondria-related gene-based signature predicts pancreatic ductal adenocarcinoma clinical outcome and revealed CAMK2A/THEM4 regulates progression phenotypes and mitophagy in vivo and in vitro.
PMID: 41353164
J Transl Med Β· 2025
0.68