Gene: CAMK2B

Alternate names for this Gene: CAM2|CAMK2|CAMKB|CaMKIIbeta|MRD54

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p13

Description of this Gene: calcium/calmodulin dependent protein kinase II beta

Type of Gene: protein-coding

rs1554386687 in CAMK2B gene and Abnormal emotion/affect behavior PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Abnormality of the eye PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554386687 in CAMK2B gene and Abnormality of the face PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Congenital digestive system anomalies PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Constipation PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs3757837 in CAMK2B gene and Degenerative polyarthritis PMID 23989986 2014 A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.

rs1554385305 in CAMK2B gene and Delayed speech and language development PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Dyskinetic syndrome PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Feeding difficulties PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Global developmental delay PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Gross motor development delay PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554386687 in CAMK2B gene and Growth abnormality PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Hyperkinesia PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs146929064 in CAMK2B gene and Intracranial Aneurysm PMID 29531279 2018 Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population.

rs1554385111 in CAMK2B gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

PMID 29560374 2018 De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

rs1127065 in CAMK2B gene and Metabolic Syndrome X PMID 22399527 2012 Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.

rs1554389088 in CAMK2B gene and Microcephaly (physical finding) PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Movement Disorders PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Muscle hypotonia PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 11994750 2002 The molecular basis of CaMKII function in synaptic and behavioural memory.

rs1554389088 in CAMK2B gene and Neonatal respiratory distress PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Pediatric failure to thrive PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Poor school performance PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Profound global developmental delay PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Reduced visual acuity PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554386687 in CAMK2B gene and Seizures PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Short stature PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Sleep disturbances PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs2075066 in CAMK2B gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs35452727 in CAMK2B gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.