CAMK2B Chromosome 7
Calcium/calmodulin dependent protein kinase II beta
Upload your DNA to see your personal genotypes for variants in CAMK2B.
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 beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Gene Info
Gene Group
CAMK2 family
Locus Type
gene with protein product
Location
7p13
Ensembl
ENSG00000058404
Associated Conditions (8)
Intellectual disability
autosomal dominant 54
Inborn genetic diseases
Autism spectrum disorder
Hereditary ataxia
autosomal dominant 40
6 conditions
Abnormality of the nervous system
Key Variants
RS1039889497
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 54, Intellectual disability
Health Risk
RS1252609453
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1267339772
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1344342135
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139081314
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Intellectual disability
Health Risk
RS1488399289
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1584086882
Conflicting classifications of pathogenicity
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS2096481989
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2096699885
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2485051580
Conflicting classifications of pathogenicity
Health Risk
RS2486009300
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 54, Intellectual disability
Health Risk
RS2486086588
Conflicting classifications of pathogenicity
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1039889497 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 54, Intellectual disability |
| RS1252609453 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1267339772 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1344342135 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139081314 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Inborn genetic diseases, Intellectual disability |
| RS1488399289 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1584086882 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder, Autism spectrum disorder |
| RS2096481989 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2096699885 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2485051580 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2486009300 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 54, Intellectual disability |
| RS2486086588 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370415166 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373065396 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374476287 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 54, Inborn genetic diseases |
| RS555460132 | Health Risk | Conflicting classifications of pathogenicity | Hereditary ataxia, Hereditary ataxia |
| RS747472065 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755427879 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 40, Inborn genetic diseases |
| RS757988232 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771606853 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776719958 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS777076470 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780130215 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 54, Intellectual disability |
| RS901679452 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2096680726 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2128963917 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2485697689 | Health Risk | Likely pathogenic | — |
| RS2486084284 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 54, Intellectual disability |
| RS2486097207 | Health Risk | Likely pathogenic | — |
| RS1554385102 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1554385203 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 54, Intellectual disability |
| RS1554385305 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1554386687 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 54, Intellectual disability |
| RS1554387293 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 54, Intellectual disability |
| RS1554402092 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 54, Intellectual disability |
| RS1554434435 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 54, Intellectual disability |
| RS1554385111 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 54, Inborn genetic diseases |
| RS1554389088 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 54, Inborn genetic diseases |