• Gene id: 816

Gene Summary

• Gene Symbol: CAMK2B   Gene   UCSC   Ensembl
• Aliases: CAM2, CAMK2, CAMKB, CaMKIIbeta, MRD54
• Gene name: calcium/calmodulin dependent protein kinase II beta
• Alternate names: calcium/calmodulin-dependent protein kinase type II subunit beta, CaM kinase II beta subunit, CaM-kinase II beta chain, caMK-II subunit beta, proline rich calmodulin-dependent protein kinase,
• Gene location: 7p13 (44326166: 44217149)     Exons: 28     NC_000007.14
• Gene summary(Entrez): The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, t
• OMIM: 607707

SNPs

rs11467497

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.145515_145518CAAA[1]
NC_000020.10   g.126156_126159CAAA[1]
NM_030931.4   c.159_162CAAA[1]
NM_030931.3   c.159_162CAAA[1]
NP_112193.1   p.Gln55fs|SEQ=[CAAA/-]|GENE=DEFB126

rs140685149

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.145673_145674del
NC_000020.11   g.145674del
NC_000020.11   g.145674dup
NC_000020.10   g.126314_126315del
NC_000020.10   g.126315del
NC_000020.10   g.126315dup
NM_030931.4   c.317_318del
NM_030931.4   c.318del
NM_030931.4   c.318dup
NM_030931.3   c.317_3

Protein Summary

• Protein general information: Q13554  
  • Name: Calcium/calmodulin dependent protein kinase type II subunit beta (CaM kinase II subunit beta) (CaMK II subunit beta) (EC 2.7.11.17)
  • Length: 666  
  • Mass: 72678
  • Tissue specificity: Widely expressed. Expressed in adult and fetal brain. Expression is slightly lower in fetal brain. Expressed in skeletal muscle. {ECO
• Sequence:

  MATTVTCTRFTDEYQLYEDIGKGAFSVVRRCVKLCTGHEYAAKIINTKKLSARDHQKLEREARICRLLKHSNIVR
  LHDSISEEGFHYLVFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKCKG
  AAVKLADFGLAIEVQGDQQAWFGFAGTPGYLSPEVLRKEAYGKPVDIWACGVILYILLVGYPPFWDEDQHKLYQQ
  IKAGAYDFPSPEWDTVTPEAKNLINQMLTINPAKRITAHEALKHPWVCQRSTVASMMHRQETVECLKKFNARRKL
  KGAILTTMLATRNFSVGRQTTAPATMSTAASGTTMGLVEQAKSLLNKKADGVKPQTNSTKNSAAATSPKGTLPPA
  ALEPQTTVIHNPVDGIKESSDSANTTIEDEDAKAPRVPDILSSVRRGSGAPEAEGPLPCPSPAPFSPLPAPSPRI
  SDILNSVRRGSGTPEAEGPLSAGPPPCLSPALLGPLSSPSPRISDILNSVRRGSGTPEAEGPSPVGPPPCPSPTI
  PGPLPTPSRKQEIIKTTEQLIEAVNNGDFEAYAKICDPGLTSFEPEALGNLVEGMDFHRFYFENLLAKNSKPIHT
  TILNPHVHVIGEDAACIAYIRLTQYIDGQGRPRTSQSEETRVWHRRDGKWQNVHFHCSGAPVAPLQ

• Structural information:
  • Protein Domains: (14..27-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR013543  IPR011009  IPR032710  IPR000719  IPR017441   IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • PDB: 3BHH
  • PDBsum: 3BHH
  • DIP: 39770
  • STRING: ENSP00000379098
• Other Databases: GeneCards:  CAMK2B  Malacards:  CAMK2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043005	neuron projection	IBA	cellular component
GO:0005516	calmodulin binding	IBA	molecular function
GO:0004683	calmodulin-dependent protein kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0061003	positive regulation of dendritic spine morphogenesis	ISS	biological process
GO:0060998	regulation of dendritic spine development	TAS	biological process
GO:0051924	regulation of calcium ion transport	TAS	biological process
GO:0051823	regulation of synapse structural plasticity	TAS	biological process
GO:0014733	regulation of skeletal muscle adaptation	TAS	biological process
GO:0090129	positive regulation of synapse maturation	ISS	biological process
GO:0048169	regulation of long-term neuronal synaptic plasticity	TAS	biological process
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:2001222	regulation of neuron migration	IMP	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:0005516	calmodulin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006468	protein phosphorylation	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0004683	calmodulin-dependent protein kinase activity	IEA	molecular function
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	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:0042803	protein homodimerization activity	IPI	molecular function
GO:0005954	calcium- and calmodulin-dependent protein kinase complex	IDA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

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
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray