CAMK2A Chromosome 5
Calcium/calmodulin dependent protein kinase II alpha
Upload your DNA to see your personal genotypes for variants in CAMK2A.
What This Gene Does
The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]
Gene Info
Gene Group
CAMK2 family
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000070808
Associated Conditions (6)
Intellectual disability
Inborn genetic diseases
CAMK2A-related disorder
autosomal dominant 53
Global developmental delay
autosomal recessive 63
Key Variants
RS113331868
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Intellectual disability
Health Risk
RS200745191
Conflicting classifications of pathogenicity
CAMK2A-related disorder, CAMK2A-related disorder
Health Risk
RS202107716
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 53, Inborn genetic diseases
Health Risk
RS2532310162
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 53, Intellectual disability
Health Risk
RS751885208
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 53, Intellectual disability
Health Risk
RS864309606
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 53, Intellectual disability
Health Risk
RS1554122123
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1554123982
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1562164380
Likely pathogenic
Health Risk
RS1580966945
Likely pathogenic
Intellectual disability, autosomal dominant 53, Global developmental delay
Health Risk
RS1755639151
Likely pathogenic
Health Risk
RS2150279502
Likely pathogenic
Intellectual disability, autosomal dominant 53, Intellectual disability
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113331868 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Inborn genetic diseases, Intellectual disability |
| RS200745191 | Health Risk | Conflicting classifications of pathogenicity | CAMK2A-related disorder, CAMK2A-related disorder |
| RS202107716 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 53, Inborn genetic diseases |
| RS2532310162 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS751885208 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS864309606 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS1554122123 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1554123982 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1562164380 | Health Risk | Likely pathogenic | — |
| RS1580966945 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 53, Global developmental delay |
| RS1755639151 | Health Risk | Likely pathogenic | — |
| RS2150279502 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS2150280830 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS2150315525 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS2532310211 | Health Risk | Likely pathogenic | — |
| RS2532310219 | Health Risk | Likely pathogenic | — |
| RS2532312025 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS2532319609 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS2532327182 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 63, Intellectual disability |
| RS1287121256 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS1554119274 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 63, Intellectual disability |
| RS1554121872 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS1554121875 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS1554121878 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS1554122129 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS1554122526 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS1755922883 | Health Risk | Pathogenic | — |
| RS2532303553 | Health Risk | Pathogenic | — |
| RS2532315012 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS61732056 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 53, autosomal recessive 63 |
| RS926027867 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |
| RS2532311966 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 53, Intellectual disability |