Gene Gene information from NCBI Gene database.
Entrez ID 815
Gene name Calcium/calmodulin dependent protein kinase II alpha
Gene symbol CAMK2A
Synonyms (NCBI Gene)
CAMKACaMKIINalphaCaMKIIalphaMRD53MRT63
Chromosome 5
Chromosome location 5q32
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 calmo
SNPs SNP information provided by dbSNP.
14
SNP ID Visualize variation Clinical significance Consequence
rs113331868 C>A,T Pathogenic Splice donor variant
rs864309606 G>A Uncertain-significance, pathogenic Coding sequence variant, missense variant
rs926027867 G>A,T Pathogenic Coding sequence variant, missense variant
rs1287121256 C>G,T Pathogenic Missense variant, coding sequence variant, synonymous variant
rs1554119274 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
192
miRTarBase ID miRNA Experiments Reference
MIRT529406 hsa-miR-302c-3p PAR-CLIP 22012620
MIRT529405 hsa-miR-520f-3p PAR-CLIP 22012620
MIRT529404 hsa-miR-1251-3p PAR-CLIP 22012620
MIRT457398 hsa-miR-4688 PAR-CLIP 23592263
MIRT457397 hsa-miR-6743-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle ISS
GO:0000166 Function Nucleotide binding IEA
GO:0002931 Process Response to ischemia ISS
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IDA 28130356
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114078 1460 ENSG00000070808
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UQM7
Protein name Calcium/calmodulin-dependent protein kinase type II subunit alpha (CaM kinase II subunit alpha) (CaMK-II subunit alpha) (EC 2.7.11.17)
Protein function Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in various processes, such as synaptic plasticity, neurotransmitter release and long-term potentiati
PDB 2VZ6 , 3SOA , 5IG3 , 6OF8 , 6VZK , 6W4O , 6W4P , 6X5G , 6X5Q , 7KL0 , 7KL1 , 7KL2 , 7REC , 7UIQ , 7UIR , 7UIS , 7UJP , 7UJQ , 7UJR , 7UJS , 7UJT , 9EOY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 13 271 Protein kinase domain Domain
PF08332 CaMKII_AD 346 473 Calcium/calmodulin dependent protein kinase II association domain Domain
Sequence
Sequence length 478
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
63
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Likely pathogenic rs1580966945 RCV001255385
Intellectual disability Pathogenic; Likely pathogenic rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982 RCV000577925
RCV000577902
RCV000577918
RCV000577905
RCV000577883
RCV000577915
RCV000577897
RCV000577878
Intellectual disability, autosomal dominant 53 Likely pathogenic; Pathogenic rs2150280830, rs2150315525, rs2150279502, rs2532315012, rs2532319609, rs2532312025, rs2532311966, rs1554121872, rs1554121875, rs926027867, rs1554122129, rs1287121256, rs1554122526, rs1554121878, rs1580966945
View all (1 more)
RCV001507313
RCV001706924
RCV002274473
RCV002468817
RCV003149128
RCV003149129
RCV003761181
RCV000516152
RCV000516155
RCV002470885
RCV000516153
RCV000516151
RCV000516156
RCV000678211
RCV000678213
RCV000824996
RCV001270422
Intellectual disability, autosomal recessive 63 Likely pathogenic; Pathogenic rs2532327182, rs1554119274, rs61732056 RCV004560490
RCV000678210
RCV001270422
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Uncertain significance rs2150279471 RCV003125908
CAMK2A-related disorder Conflicting classifications of pathogenicity; Likely benign; Uncertain significance rs200745191, rs372258019, rs2532303477, rs186348077, rs201063740, rs55856831 RCV003938616
RCV003941144
RCV003966284
RCV003904633
RCV003973907
RCV003961937
Neurodevelopmental disorder Uncertain significance rs2481475962 RCV003389159
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 21811019
Arthritis Rheumatoid Associate 33673283
Autism Spectrum Disorder Associate 37510258
Bipolar Disorder Associate 25730879, 27063557
Brain Diseases Associate 37510258
Carcinogenesis Associate 30220561
Cerebral Hemorrhage Associate 36854487
Congenital Abnormalities Associate 37510258
Developmental Disabilities Associate 23695276, 29784083, 37510258
Drug Resistant Epilepsy Associate 40646440