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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.
CAMK2B
calcium/calmodulin dependent protein kinase II beta
Chromosome 7 Β· 7p13
NCBI Gene: 816Ensembl: ENSG00000058404.22HGNC: HGNC:1461UniProt: A4D2J9
132PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
calcium/calmodulin-dependent protein kinase activityidentical protein bindingregulation of neuron migrationprotein homodimerization activityintellectual disability, autosomal dominant 54Intellectual disabilitytype 2 diabetes mellitusgenetic disorder
✦AI Summary

CAMK2B (calcium/calmodulin-dependent protein kinase II beta) is a multifunctional serine/threonine kinase with distinct roles in neuronal and non-neuronal tissues. In neurons, CAMK2B functions both as a kinase and through kinase-independent structural mechanisms. It plays an essential role in dendritic spine and synapse formation by binding and bundling actin filaments, thereby enabling proper targeting of CAMK2A and supporting long-term potentiation and hippocampus-dependent learning 1. CAMK2B regulates neuronal migration and dendritic arborization during brain development 1. In skeletal muscle, CAMK2B modulates sarcoplasmic reticulum calcium transport and responds to exercise through phosphorylation of regulatory proteins including phospholamban and triadin 2. Under endoplasmic reticulum stress, CAMK2B phosphorylates the reticulophagy regulator RETREG1, enhancing ER autophagy 3. Dysregulation of CAMK2B is implicated in disease pathogenesis: de novo CAMK2B mutations cause intellectual disability through altered autophosphorylation affecting neuronal migration 1, while CAMK2B upregulation contributes to polycystic ovary syndrome by disrupting oocyte-granulosa cell communication 4. In glioma, CAMK2B suppresses tumor progression by inhibiting the Ras/Raf/MEK/ERK pathway 5. TDP-43 dysfunction in Alzheimer's disease leads to CAMK2B cryptic splicing accumulation 6.

Sources cited
1
CAMK2B de novo mutations cause intellectual disability; tightly regulated auto-phosphorylation is essential for neuronal migration and neurodevelopment
PMID: 29100089
2
CAMK2B is involved in dendritic spine/synapse formation, neuronal plasticity, and skeletal muscle sarcoplasmic reticulum calcium transport regulation
PMID: 16690701
3
Under ER stress, CAMK2B phosphorylates FAM134B/RETREG1 to enhance oligomerization and ER-phagy activity
PMID: 31930741
4
CAMK2B upregulation inhibits transzonal projection assembly and is implicated in polycystic ovary syndrome pathogenesis
PMID: 34976213
5
CAMK2B suppresses glioma cell proliferation, invasion, and migration through inhibition of the Ras/Raf/MEK/ERK signaling pathway
PMID: 41050075
6
CAMK2B cryptic RNAs accumulate in Alzheimer's disease brains with TDP-43 pathology, potentially marking TDP-43 dysfunction
PMID: 37605276
Disease Associationsβ“˜21
intellectual disability, autosomal dominant 54Open Targets
0.77Strong
Intellectual disabilityOpen Targets
0.64Moderate
type 2 diabetes mellitusOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.45Moderate
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
Abnormality of the nervous systemOpen Targets
0.34Weak
Global developmental delayOpen Targets
0.26Weak
microcephalyOpen Targets
0.26Weak
AgitationOpen Targets
0.26Weak
ApneaOpen Targets
0.26Weak
DystoniaOpen Targets
0.26Weak
dystonic disorderOpen Targets
0.26Weak
HyperventilationOpen Targets
0.26Weak
Escherichia coli InfectionsOpen Targets
0.20Weak
diabetes mellitusOpen Targets
0.17Weak
osteoarthritisOpen Targets
0.16Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
autism spectrum disorderOpen Targets
0.12Weak
intellectual disability, autosomal dominant 40Open Targets
0.12Weak
Intellectual developmental disorder, autosomal dominant 54UniProt
Pathogenic Variants17
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)Pathogenic
Intellectual disability, autosomal dominant 54|Intellectual disability|Inborn genetic diseases|6 conditions|Abnormality of the nervous system|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 139
NM_001220.5(CAMK2B):c.709G>A (p.Glu237Lys)Pathogenic
Intellectual disability, autosomal dominant 54|Intellectual disability|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 237
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu)Pathogenic
Intellectual disability, autosomal dominant 54|Inborn genetic diseases|Intellectual disability|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 301
NM_001220.5(CAMK2B):c.328G>A (p.Glu110Lys)Pathogenic
Intellectual disability, autosomal dominant 54|Intellectual disability|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 110
NM_001220.5(CAMK2B):c.903+2T>CLikely pathogenic
not provided|Intellectual disability
β˜…β˜…β˜†β˜†2021
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)Pathogenic
Intellectual disability, autosomal dominant 54|not provided|Intellectual disability
β˜…β˜…β˜†β˜†2020β†’ Residue 29
NM_001220.5(CAMK2B):c.1834G>T (p.Glu612Ter)Likely pathogenic
Intellectual disability, autosomal dominant 54
β˜…β˜†β˜†β˜†2025β†’ Residue 612
NM_001220.5(CAMK2B):c.778C>G (p.Arg260Gly)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 260
NM_001220.5(CAMK2B):c.895A>G (p.Lys299Glu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 299
NM_001220.5(CAMK2B):c.1059+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001220.5(CAMK2B):c.601+1G>ALikely pathogenic
Intellectual disability, autosomal dominant 54
β˜…β˜†β˜†β˜†2022
NM_001220.5(CAMK2B):c.441G>C (p.Lys147Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 147
NM_001220.5(CAMK2B):c.638C>T (p.Pro213Leu)Pathogenic
Intellectual disability, autosomal dominant 54|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 213
NM_001220.5(CAMK2B):c.885_902dup (p.Asn295_Leu300dup)Likely pathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2020β†’ Residue 295
NM_001220.5(CAMK2B):c.903+1G>APathogenic
Intellectual disability|not provided
β˜…β˜†β˜†β˜†2018
NM_001220.5(CAMK2B):c.852A>T (p.Arg284Ser)Pathogenic
Intellectual disability, autosomal dominant 54
β˜†β˜†β˜†β˜†2022β†’ Residue 284
NM_001220.5(CAMK2B):c.820-1G>APathogenic
Intellectual disability
β˜†β˜†β˜†β˜†2017
View on ClinVar β†—
Related Genes
ADCY2Protein interaction100%STAT1Protein interaction100%EP300Protein interaction100%SCN5AProtein interaction100%RYR2Protein interaction100%NOS1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
66%
Liver
10%
Ovary
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CAMK2BADCY2STAT1EP300SCN5ARYR2NOS1
PROTEIN STRUCTURE
Preparing viewer…
PDB3BHH Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.45Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.32 [0.23–0.45]
RankingsWhere CAMK2B stands among ~20K protein-coding genes
  • #3,513of 20,598
    Most Researched132 Β· top quartile
  • #2,329of 5,498
    Most Pathogenic Variants17
  • #2,512of 17,882
    Most Constrained (LOEUF)0.45 Β· top quartile
Genes detectedCAMK2B
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
Reticulophagy and viral infection.
PMID: 39394962
Autophagy Β· 2025
0.90
3
Role of CAMK2D in neurodevelopment and associated conditions.
PMID: 38272033
Am J Hum Genet Β· 2024
0.80
4
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
PMID: 29100089
Am J Hum Genet Β· 2017
0.70
5
FAM134B oligomerization drives endoplasmic reticulum membrane scission for ER-phagy.
PMID: 31930741
EMBO J Β· 2020
0.60