• Gene id: 815

Gene Summary

• Gene Symbol: CAMK2A   Gene   UCSC   Ensembl
• Aliases: CAMKA, CaMKIINalpha, CaMKIIalpha, MRD53, MRT63
• Gene name: calcium/calmodulin dependent protein kinase II alpha
• Alternate names: calcium/calmodulin-dependent protein kinase type II subunit alpha, 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 alp,
• Gene location: 5q32 (150290129: 150219490)     Exons: 20     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 606184

SNPs

rs3819392

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54660528G>A
NC_000004.11   g.55526694G>A
NG_007456.1   g.7534G>A|SEQ=[G/A]|GENE=KIT

rs3134885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54701722A>C
NC_000004.11   g.55567888A>C
NG_007456.1   g.48728A>C|SEQ=[A/C]|GENE=KIT

rs2237012

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54733832A>G
NC_000004.11   g.55599998A>G
NG_007456.1   g.80838A>G|SEQ=[A/G]|GENE=KIT

Protein Summary

• Protein general information: Q9UQM7  
  • Name: Calcium/calmodulin dependent protein kinase type II subunit alpha (CaM kinase II subunit alpha) (CaMK II subunit alpha) (EC 2.7.11.17)
  • Length: 478  
  • Mass: 54088
• Sequence:

  MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRL
  HDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKLKGA
  AVKLADFGLAIEVEGEQQAWFGFAGTPGYLSPEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQI
  KAGAYDFPSPEWDTVTPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLK
  GAILTTMLATRNFSGGKSGGNKKSDGVKESSESTNTTIEDEDTKVRKQEIIKVTEQLIEAISNGDFESYTKMCDP
  GMTAFEPEALGNLVEGLDFHRFYFENLWSRNSKPVHTTILNPHIHLMGDESACIAYIRITQYLDAGGIPRTAQSE
  ETRVWHRRDGKWQIVHFHRSGAPSVLPH

• Structural information:
  • Protein Domains: (13..27-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR013543  IPR011009  IPR032710  IPR000719  IPR017441   IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • PDB: 2VZ6 3SOA 5IG3 6OF8
  • PDBsum: 2VZ6 3SOA 5IG3 6OF8
  • DIP: 39705
  • STRING: ENSP00000381412
• Other Databases: GeneCards:  CAMK2A  Malacards:  CAMK2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002931	response to ischemia	ISS	biological process
GO:0006816	calcium ion transport	ISS	biological process
GO:0035254	glutamate receptor binding	ISS	molecular function
GO:0004674	protein serine/threonine kinase activity	ISS	molecular function
GO:0004674	protein serine/threonine kinase activity	ISS	molecular function
GO:0010666	positive regulation of cardiac muscle cell apoptotic process	ISS	biological process
GO:1902108	regulation of mitochondrial membrane permeability involved in apoptotic process	ISS	biological process
GO:0048168	regulation of neuronal synaptic plasticity	ISS	biological process
GO:0051928	positive regulation of calcium ion transport	ISS	biological process
GO:0018105	peptidyl-serine phosphorylation	ISS	biological process
GO:0046777	protein autophosphorylation	ISS	biological process
GO:0046928	regulation of neurotransmitter secretion	ISS	biological process
GO:0000082	G1/S transition of mitotic cell cycle	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004683	calmodulin-dependent protein kinase activity	IBA	molecular function
GO:0005516	calmodulin binding	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0005954	calcium- and calmodulin-dependent protein kinase complex	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0043197	dendritic spine	IDA	cellular component
GO:0038166	angiotensin-activated signaling pathway	IDA	biological process
GO:0060996	dendritic spine development	IMP	biological process
GO:1990443	peptidyl-threonine autophosphorylation	IMP	biological process
GO:2000124	regulation of endocannabinoid signaling pathway	ISS	biological process
GO:2001222	regulation of neuron migration	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051346	negative regulation of hydrolase activity	ISS	biological process
GO:0004683	calmodulin-dependent protein kinase activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004683	calmodulin-dependent protein kinase activity	IEA	molecular function
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005516	calmodulin binding	IPI	molecular function
GO:0005516	calmodulin binding	IPI	molecular function
GO:0005516	calmodulin binding	IPI	molecular function
GO:0005954	calcium- and calmodulin-dependent protein kinase complex	IDA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016301	kinase activity	IDA	molecular function
GO:0006468	protein phosphorylation	IDA	biological process
GO:0005634	nucleus	HDA	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0009931	calcium-dependent protein serine/threonine kinase activity	IMP	molecular function
GO:0006468	protein phosphorylation	IMP	biological process
GO:0004683	calmodulin-dependent protein kinase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05012	Parkinson disease
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04360	Axon guidance
hsa05205	Proteoglycans in cancer
hsa04310	Wnt signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04934	Cushing syndrome
hsa05152	Tuberculosis
hsa04217	Necroptosis
hsa04740	Olfactory transduction
hsa04921	Oxytocin signaling pathway
hsa04728	Dopaminergic synapse
hsa04114	Oocyte meiosis
hsa04722	Neurotrophin signaling pathway
hsa04725	Cholinergic synapse
hsa04922	Glucagon signaling pathway
hsa04916	Melanogenesis
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04066	HIF-1 signaling pathway
hsa04912	GnRH signaling pathway
hsa04911	Insulin secretion
hsa04012	ErbB signaling pathway
hsa04971	Gastric acid secretion
hsa04720	Long-term potentiation
hsa05031	Amphetamine addiction
hsa05214	Glioma

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Alzheimer's disease	PMID:15621017
Malignant glioma	PMID:29393370
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq