CAMK2G Chromosome 10
Calcium/calmodulin dependent protein kinase II gamma
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What This Gene Does
The product of this gene is one of the four subunits of an enzyme which 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 gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]
Gene Info
Gene Group
CAMK2 family
Locus Type
gene with protein product
Location
10q22.2
Ensembl
ENSG00000148660
Associated Conditions (5)
Intellectual developmental disorder 59
Severe intellectual disability
Global developmental delay
Autism
Generalized hypotonia
Key Variants
RS2134277165
Likely pathogenic
Intellectual developmental disorder 59, Intellectual developmental disorder 59
Health Risk
RS2547960192
Likely pathogenic
Intellectual developmental disorder 59, Intellectual developmental disorder 59
Health Risk
RS2548411405
Likely pathogenic
Health Risk
RS2548530010
Likely pathogenic
Intellectual developmental disorder 59, Intellectual developmental disorder 59
Health Risk
RS397514627
Pathogenic/Likely pathogenic
Severe intellectual disability, Global developmental delay, Autism
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2134277165 | Health Risk | Likely pathogenic | Intellectual developmental disorder 59, Intellectual developmental disorder 59 |
| RS2547960192 | Health Risk | Likely pathogenic | Intellectual developmental disorder 59, Intellectual developmental disorder 59 |
| RS2548411405 | Health Risk | Likely pathogenic | — |
| RS2548530010 | Health Risk | Likely pathogenic | Intellectual developmental disorder 59, Intellectual developmental disorder 59 |
| RS397514627 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual disability, Global developmental delay, Autism |