Gene: CAMK2A

Alternate names for this Gene: CAMKA|CaMKIINalpha|CaMKIIalpha|MRD53|MRT63

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q32

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

Type of Gene: protein-coding

rs113331868 in CAMK2A gene and Abnormal emotion/affect behavior PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs113331868 in CAMK2A gene and Abnormality of the eye PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1287121256 in CAMK2A gene and Abnormality of the face PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs113331868 in CAMK2A gene and Congenital digestive system anomalies PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1287121256 in CAMK2A gene and Delayed speech and language development PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1287121256 in CAMK2A gene and Global developmental delay PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1287121256 in CAMK2A gene and Gross motor development delay PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs926027867 in CAMK2A gene and Growth abnormality PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs17656349 in CAMK2A gene and Inflammatory Bowel Diseases PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs113331868 in CAMK2A gene and Large head (disorder) PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554121872 in CAMK2A gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 PMID 28130356 2017 A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.

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.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

rs1554119274 in CAMK2A gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 PMID 29784083 2018 A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

rs1554121872 in CAMK2A gene and Movement Disorders PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1287121256 in CAMK2A gene and Muscle hypotonia PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs4958456 in CAMK2A gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs113331868 in CAMK2A gene and Poor school performance PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1287121256 in CAMK2A gene and Seizures PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs17656349 in CAMK2A gene and Ulcerative Colitis PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs1554121875 in CAMK2A gene and Urogenital Abnormalities PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs113331868 in CAMK2A gene and Ventricular Septal Defects PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.