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

Summary

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

Location:: 5q32

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (150219491..150290130, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (150756093..150826669, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (149599054..149669693, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
[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].
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.
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.
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.
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.
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.
CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability.
Title: CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability.

Submit: New GeneRIF Correction See all GeneRIFs (67)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11735 (e-PCR)
- UniSTS:6957

CAMK2A__1170 (e-PCR)
- UniSTS:277050

1954 (e-PCR)
- UniSTS:61818

RH35759 (e-PCR)
- UniSTS:45185

G69463 (e-PCR)
- UniSTS:229537

WI-16284 (e-PCR)
- UniSTS:74421

D17S1195 (e-PCR)
- UniSTS:79816

bac51383T (e-PCR)
- UniSTS:181453

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables calmodulin-dependent protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin-dependent protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin-dependent protein kinase activity	TAS Traceable Author Statement 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	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 response to ischemia	ISS Inferred from Sequence or Structural Similarity 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 more info	PubMed
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

EC 2.7.11.17

NP_001350919.1

EC 2.7.11.17

NP_001355954.1

EC 2.7.11.17

NP_057065.2

EC 2.7.11.17

NP_741960.1

EC 2.7.11.17

NCBI Reference Sequences (RefSeq)

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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

NG_047040.1 RefSeqGene

Range

5068..75350

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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