CAMK2A

Chr 5q32

calcium/calmodulin dependent protein kinase II alpha

Aliases:: KIAA0968, CaMKIINalpha, CaMKIIα
MANE:: ENST00000671881.1

OMIM: 114078 ↗NCBI: 815 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CAMK2A · Q9UQM7

v62025-08-01

Predicted Aligned Error matrix for CAMK2A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.8/ 100

Confident

478 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)25%
Low(50–70)5%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

intellectual disability, autosomal dominant 53
0.79
Intellectual disability
0.66
intellectual disability, autosomal recessive 63
0.45
complex neurodevelopmental disorder
0.37
dengue disease
0.37
autosomal dominant non-syndromic intellectual disability
0.37
smoking initiation
0.37
inflammatory bowel disease
0.33
neurodegenerative disease
0.33
Global developmental delay
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Calcium/calmodulin-dependent protein kinase type II subunit alpha

Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in various processes, such as synaptic plasticity, neurotransmitter release and long-term potentiation (PubMed:14722083). Member of the NMDAR signaling complex in excitatory synapses, it regulates NMDAR-dependent potentiation of the AMPAR and therefore excitatory synaptic transmission (By similarity). Regulates dendritic spine development (PubMed:28130356). Also regulates the migration of developing neurons (PubMed:29100089). Phosphorylates the transcription factor FOXO3 to activate its transcriptional activity (PubMed:23805378). Phosphorylates the transcription factor ETS1 in response to calcium signaling, thereby decreasing ETS1 affinity for DNA (By similarity). In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of STAT1, stimulating the JAK-STAT signaling pathway (PubMed:11972023). In response to interferon-beta (IFN-beta) stimulation, stimulates the JAK-STAT signaling pathway (PubMed:35568036). In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of PSAT1, inhibiting ferroptosis by promoting GPX4 hydroxylation and stability (PubMed:40281343). Acts as a negative regulator of 2-arachidonoylglycerol (2-AG)-mediated synaptic signaling via modulation of DAGLA activity (By similarity)