CAMK2D

Chr 4

calcium/calmodulin dependent protein kinase II delta

Also known as: CAMKD

NCBI Gene: 817ENSG00000145349UniProt: Q13557OMIM: 607708

The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy · ADStrongappropriate for clinical testing
Interpreting a novel variant
Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
53
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.54
LOEUF
GOF*
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?
0.54LOEUF
pLI 0.002
Z-score 3.63
OE 0.33 (0.20–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.11Z-score
OE missense 0.46 (0.40–0.54)
124 obs / 266.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.33 (0.20–0.54)
0≤0.351.4
Missense OE?0.46 (0.40–0.54)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 11 / 33.8Missense obs/exp: 124 / 266.7Syn Z: 1.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CAMK2D · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients