AlphaFold predicted structure
CAMK2B · Q13554

Mean pLDDT
70.6/ 100
Confident
666 residues
Confidence breakdown
- Very high(≥ 90)44%
- Confident(70–90)17%
- Low(50–70)4%
- Very low(< 50)35%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
calcium/calmodulin dependent protein kinase II beta
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedintellectual disability, autosomal dominant 54
Intellectual disability
type 2 diabetes mellitus
hereditary disease
dengue disease
autosomal dominant non-syndromic intellectual disability
Abnormality of the nervous system
Global developmental delay
microcephaly
dystonic disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Calcium/calmodulin-dependent protein kinase type II subunit beta
Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle (PubMed:16690701). In neurons, plays an essential structural role in the reorganization of the actin cytoskeleton during plasticity by binding and bundling actin filaments in a kinase-independent manner. This structural function is required for correct targeting of CaMK2A, which acts downstream of NMDAR to promote dendritic spine and synapse formation and maintain synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. In developing hippocampal neurons, promotes arborization of the dendritic tree and in mature neurons, promotes dendritic remodeling. Also regulates the migration of developing neurons (PubMed:29100089). Participates in the modulation of skeletal muscle function in response to exercise (PubMed:16690701). In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of triadin, a ryanodine receptor-coupling factor, and phospholamban (PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2. In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of STAT1, stimulating the JAK-STAT signaling pathway (By similarity). Phosphorylates reticulophagy regulator RETREG1 at 'Ser-151' under endoplasmic reticulum stress conditions which enhances RETREG1 oligomerization and its membrane scission and reticulophagy activity (PubMed:31930741)
CAMK2B · Q13554

Mean pLDDT
70.6/ 100
Confident
666 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0