CAMK2A calcium/calmodulin dependent protein kinase II alpha
Gene ID: 815, updated on 7-Apr-2024Gene type: protein coding
Also known as: CAMKA; MRD53; MRT63; CaMKIIalpha; CaMKIINalpha
- See all available tests in GTR for this gene
- Go to complete Gene record for CAMK2A
- Go to Variation Viewer for CAMK2A variants
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. [provided by RefSeq, Jun 2018]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Intellectual disability, autosomal dominant 53 | See labs |
| Intellectual disability, autosomal recessive 63 | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-05-24) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2023-05-24) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 5q32
- Sequence:
- Chromosome: 5; NC_000005.10 (150219491..150290130, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CAMK2A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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