CAMK2B
Homo sapiens
Gene Name: calcium/calmodulin dependent protein kinase II beta
Aliases: CAM2, CAMK2, CAMKB
Chromosome No: 7
Chromosome Band: 7p13
Genetic Category: Syndromic-Rare single gene variant--Syndromic/Functional
Associated Syndrome(s): Autosomal dominant mental retardation-54 (MRD54)
Aliases: CAM2, CAMK2, CAMKB
Chromosome No: 7
Chromosome Band: 7p13
Genetic Category: Syndromic-Rare single gene variant--Syndromic/Functional
Associated Syndrome(s): Autosomal dominant mental retardation-54 (MRD54)
Summary Statistics:
ASD Reports: 14
Recent Reports: 1
Annotated variants: 22
Associated CNVs: 4
Evidence score: 2
ASD Reports: 14
Recent Reports: 1
Annotated variants: 22
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Kury et al., 2017 reported 10 individuals with intellectual disability that were found to carry de novo variants in the CAMK2B gene, many of which were experimentally shown to have either loss-of-function or gain-of-function effects; three of these individuals also presented with ASD/autistic features.
Molecular Function
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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
ID
ASD or autistic features
Support
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and
Autosomal dominant mental retardation-54 (MRD54)
DD, ID, epilepsy/seizures, stereotypy
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD, ID
Support
Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense v...
DD
Support
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population
Epilepsy/seizures
Support
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
DD, ID
Epilepsy/seizures
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders
ASD
DD, ID
Support
Ca2+/calmodulin-dependent protein kinase II β decodes ER Ca2+ transients to trigger autophagosome formation
Autosomal dominant intellectual developmental diso
Support
A familial case of CAMK2B mutation with variable expressivity
DD, epilepsy/seizures
Autosomal dominant mental retardation-54 (MRD54)
Support
Severe Developmental Delay and Behavior Abnormalities in a Patient with De Novo CAMK2B Mutation: A Case Report and Literature Review
DD, epilepsy/seizures
Recent Recommendation
A novel role for CAMKII in the regulation of cortical neuron migration: implications for neurodevelopmental disorders.
