CAMK2D Chromosome 4
Calcium/calmodulin dependent protein kinase II delta
Upload your DNA to see your personal genotypes for variants in CAMK2D.
What This Gene Does
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]
Gene Info
Gene Group
CAMK2 family
Locus Type
gene with protein product
Location
4q26
Ensembl
ENSG00000145349
Associated Conditions (3)
Neurodevelopmental disorder
CAMK2D-related condition
See cases
Key Variants
RS2511649109
Likely pathogenic
Neurodevelopmental disorder, CAMK2D-related condition, Neurodevelopmental disorder
Health Risk
RS2098989283
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2511649293
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2511651126
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2511651497
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2512545072
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2515933527
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS867010473
Pathogenic
See cases, See cases
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2511649109 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, CAMK2D-related condition, Neurodevelopmental disorder |
| RS2098989283 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2511649293 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2511651126 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2511651497 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2512545072 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2515933527 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS867010473 | Health Risk | Pathogenic | See cases, See cases |