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    CAMK2A calcium/calmodulin dependent protein kinase II alpha [ Homo sapiens (human) ]

    Gene ID: 815, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CAMK2Aprovided by HGNC
    Official Full Name
    calcium/calmodulin dependent protein kinase II alphaprovided by HGNC
    Primary source
    HGNC:HGNC:1460
    See related
    Ensembl:ENSG00000070808 MIM:114078; AllianceGenome:HGNC:1460
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAMKA; MRD53; MRT63; CaMKIIalpha; CaMKIINalpha
    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]
    Expression
    Restricted expression toward brain (RPKM 112.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See CAMK2A in Genome Data Viewer
    Location:
    5q32
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150219491..150290130, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150756093..150826669, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149599054..149669693, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:149565453-149566393 Neighboring gene caudal type homeobox 1 Neighboring gene solute carrier family 6 member 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149585404-149586030 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:149587985-149589184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149589159-149589702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149590543-149591114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149606977-149607538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149607539-149608100 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:149637006-149637189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149644251-149644786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149672518-149673099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149673100-149673680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149681719-149682259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149682260-149682800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149682801-149683340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149688475-149689108 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:149689109-149689742 Neighboring gene arylsulfatase family member I Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:149696468-149697667 Neighboring gene uncharacterized LOC105378225

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Nitric oxide induces Ca2+-independent activity of the Ca2+/calmodulin-dependent protein kinase II (CaMKII). Coultrap SJ, et al. J Biol Chem, 2014 Jul 11. PMID 24855644, Free PMC Article
    2. Decreased prefrontal CaMKII alpha mRNA in bipolar illness. Xing G, et al. Neuroreport, 2002 Mar 25. PMID 11930170
    3. alpha-CaMKII controls the growth of human osteosarcoma by regulating cell cycle progression. Yuan K, et al. Lab Invest, 2007 Sep. PMID 17632540, Free PMC Article
    4. Association of a CAMK2A genetic variant with logical memory performance and hippocampal volume in the elderly. Rhein C, et al. Brain Res Bull, 2020 Aug. PMID 32418901
    5. Effect of endurance exercise training on Ca2+ calmodulin-dependent protein kinase II expression and signalling in skeletal muscle of humans. Rose AJ, et al. J Physiol, 2007 Sep 1. PMID 17627985, Free PMC Article

    See all (224) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. circADAMTS6 via stabilizing CAMK2A is involved in smoking-induced emphysema through driving M2 macrophage polarization.
      Title: circADAMTS6 via stabilizing CAMK2A is involved in smoking-induced emphysema through driving M2 macrophage polarization.
    2. Camk2a suppresses denervated muscle atrophy by maintaining the Ca2+ homeostasis in muscle cells.
      Title: Camk2a suppresses denervated muscle atrophy by maintaining the Ca2+ homeostasis in muscle cells.
    3. Association of CaMK2A and MeCP2 signaling pathways with cognitive ability in adolescents.
      Title: Association of CaMK2A and MeCP2 signaling pathways with cognitive ability in adolescents.
    4. Calcium calmodulin kinase II activity is required for cartilage homeostasis in osteoarthritis.
      Title: Calcium calmodulin kinase II activity is required for cartilage homeostasis in osteoarthritis.
    5. [Dysregulation of MAD2L1/CAMK2A/PTTG1 Gene Cluster Maintains the Stemness Characteristics of Uterine Corpus Endometrial Carcinoma].
      Title: [Dysregulation of MAD2L1/CAMK2A/PTTG1 Gene Cluster Maintains the Stemness Characteristics of Uterine Corpus Endometrial Carcinoma].
    6. Association of a CAMK2A genetic variant with logical memory performance and hippocampal volume in the elderly.
      Title: Association of a CAMK2A genetic variant with logical memory performance and hippocampal volume in the elderly.
    7. Nanoscale regulation of L-type calcium channels differentiates between ischemic and dilated cardiomyopathies.
      Title: Nanoscale regulation of L-type calcium channels differentiates between ischemic and dilated cardiomyopathies.
    8. Role of Oxidation-Dependent CaMKII Activation in the Genesis of Abnormal Action Potentials in Atrial Cardiomyocytes: A Simulation Study.
      Title: Role of Oxidation-Dependent CaMKII Activation in the Genesis of Abnormal Action Potentials in Atrial Cardiomyocytes: A Simulation Study.
    9. Flexible linkers in CaMKII control the balance between activating and inhibitory autophosphorylation.
      Title: Flexible linkers in CaMKII control the balance between activating and inhibitory autophosphorylation.
    10. CAMK2A supported tumor initiating cells of lung adenocarcinoma by upregulating SOX2 through EZH2 phosphorylation.
      Title: CAMK2A supported tumor initiating cells of lung adenocarcinoma by upregulating SOX2 through EZH2 phosphorylation.
    Submit: New GeneRIF Correction See all GeneRIFs (68)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 53
    MedGen: C4540481 OMIM: 617798 GeneReviews: Not available
    		Compare labs
    Intellectual disability, autosomal recessive 63
    MedGen: C4748167 OMIM: 618095 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-05-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2023-05-24)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat induces upregulation of HDAC2 expression and downregulation of CREB and CaMKIIa expression in human neuroblastoma SK-N-MC cells PubMed
    tat Tat-induced IL-10 expression is regulated by p38 MAPK- and CaMK II-activated CREB-1 as well as Sp-1 transcription factors PubMed
    tat HIV-1 Tat inhibits the activation of CAMKII elicited via LFA-1 in NK cells, providing evidence that Tat inhibits NK cell activation which might contribute to the impairment of natural immunity in HIV-1 infection PubMed
    tat HIV-1 Tat inhibits the activation of CAMKII elicited via beta (3) integrin PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0968

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium/calmodulin-dependent protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium/calmodulin-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium/calmodulin-dependent protein kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables glutamate receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in angiotensin-activated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to interferon-beta IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to type II interferon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dendritic spine development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of hydrolase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in peptidyl-serine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in peptidyl-threonine autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cardiac muscle cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein autophosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of endocannabinoid signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of mitochondrial membrane permeability involved in apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neuronal synaptic plasticity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of neuronal synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to ischemia ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of calcium- and calmodulin-dependent protein kinase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in dendritic spine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    calcium/calmodulin-dependent protein kinase type II subunit alpha
    Names
    CaM kinase II alpha subunit
    CaM-kinase II alpha chain
    CaMK-II alpha subunit
    caM kinase II subunit alpha
    caMK-II subunit alpha
    calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha
    calcium/calmodulin-dependent protein kinase II alpha-B subunit
    calcium/calmodulin-dependent protein kinase type II alpha chain
    NP_001350918.1
    NP_001350919.1
    NP_001355954.1
    NP_057065.2
    NP_741960.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047040.1 RefSeqGene

      Range
      5068..75350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363989.1 → NP_001350918.1  calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC011372
      Consensus CDS
      CCDS43387.1
      UniProtKB/TrEMBL
      A8K161, Q8IWE0
      Related
      ENSP00000507199.1, ENST00000682786.1
      Conserved Domains (2) summary
      cd14086
      Location:11 → 302
      STKc_CaMKII; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type II
      pfam08332
      Location:357 → 484
      CaMKII_AD; Calcium/calmodulin dependent protein kinase II association domain

    2. NM_001363990.1 → NP_001350919.1  calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC011372
      Consensus CDS
      CCDS43386.1
      UniProtKB/Swiss-Prot
      Q9UL21, Q9UQM7, Q9Y2H4, Q9Y352
      UniProtKB/TrEMBL
      Q7LDD5, Q8IWE0
      Related
      ENSP00000500642.1, ENST00000672479.1
      Conserved Domains (2) summary
      cd14086
      Location:11 → 302
      STKc_CaMKII; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type II
      pfam08332
      Location:346 → 473
      CaMKII_AD; Calcium/calmodulin dependent protein kinase II association domain

    3. NM_001369025.2 → NP_001355954.1  calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC011372
      Consensus CDS
      CCDS93803.1
      UniProtKB/TrEMBL
      A0A5F9ZH21, Q8IWE0
      Related
      ENSP00000499939.1, ENST00000672752.1
      Conserved Domains (2) summary
      cd14086
      Location:11 → 302
      STKc_CaMKII; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type II
      pfam08332
      Location:346 → 473
      CaMKII_AD; Calcium/calmodulin dependent protein kinase II association domain

    4. NM_015981.4 → NP_057065.2  calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 1

      See identical proteins and their annotated locations for NP_057065.2

      Status: REVIEWED

      Source sequence(s)
      AC011372, AK289776, BC040457, BF951952
      Consensus CDS
      CCDS43387.1
      UniProtKB/TrEMBL
      A8K161, Q8IWE0
      Related
      ENSP00000500386.1, ENST00000671881.1
      Conserved Domains (2) summary
      cd14086
      Location:11 → 302
      STKc_CaMKII; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type II
      pfam08332
      Location:357 → 484
      CaMKII_AD; Calcium/calmodulin dependent protein kinase II association domain

    5. NM_171825.3 → NP_741960.1  calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 2

      See identical proteins and their annotated locations for NP_741960.1

      Status: REVIEWED

      Source sequence(s)
      AB023185, AC011372, BC040457, BF951952
      Consensus CDS
      CCDS43386.1
      UniProtKB/Swiss-Prot
      Q9UL21, Q9UQM7, Q9Y2H4, Q9Y352
      UniProtKB/TrEMBL
      Q7LDD5, Q8IWE0
      Related
      ENSP00000261793.8, ENST00000348628.11
      Conserved Domains (2) summary
      cd14086
      Location:11 → 302
      STKc_CaMKII; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type II
      pfam08332
      Location:346 → 473
      CaMKII_AD; Calcium/calmodulin dependent protein kinase II association domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      150219491..150290130 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      150756093..150826669 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UQM7.2 GenPept UniProtKB/Swiss-Prot:Q9UQM7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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