CAMK2B (calcium/calmodulin dependent protein kinase II beta)

Gene

• Entrez ID: 816
• Gene name: Calcium/calmodulin dependent protein kinase II beta
• Gene symbol: CAMK2B
• Synonyms: CAM2, CAMK2, CAMKB, CaMKIIbeta, MRD54
• Chromosome: 7
• Chromosome location: 7p13
• Summary: 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, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554385102	C>T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1554385111	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554385203	T>A	Pathogenic	Coding sequence variant, missense variant
rs1554385305	C>T	Pathogenic	Splice acceptor variant
rs1554386687	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554387293	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554389088	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1554402092	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1554434435	G>A	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045124	hsa-miR-186-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0004683	Function	Calmodulin-dependent protein kinase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	20668654, 25416956, 27173435, 29426014
GO:0005516	Function	Calmodulin binding	IBA	21873635
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005954	Component	Calcium- and calmodulin-dependent protein kinase complex	IDA	20668654
GO:0006468	Process	Protein phosphorylation	TAS	9060999
GO:0007165	Process	Signal transduction	TAS	9060999
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0014733	Process	Regulation of skeletal muscle adaptation	TAS	15294044
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	20668654, 25416956
GO:0042803	Function	Protein homodimerization activity	IPI	20668654
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0045202	Component	Synapse	IEA
GO:0046777	Process	Protein autophosphorylation	IDA	18817731
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	TAS	18817731
GO:0051823	Process	Regulation of synapse structural plasticity	TAS	18817731
GO:0051924	Process	Regulation of calcium ion transport	TAS	15294044
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0060998	Process	Regulation of dendritic spine development	TAS	18817731
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	ISS
GO:0090129	Process	Positive regulation of synapse maturation	ISS
GO:1900034	Process	Regulation of cellular response to heat	TAS
GO:2001222	Process	Regulation of neuron migration	IMP	29100089

Other IDs

• MIM: 607707
• HGNC: 1461
• e!Ensembl: ENSG00000058404

Protein

• UniProt ID: Q13554
• Protein name: Calcium/calmodulin-dependent protein kinase type II subunit beta (CaM kinase II subunit beta) (CaMK-II subunit beta) (EC 2.7.11.17)
• Protein function: Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle. In neurons, plays an essential structural role in the reorganization of the actin cytoskeleton during plasticity by binding and bundling actin filaments in a kinase-independent manner. This structural function is required for correct targeting of CaMK2A, which acts downstream of NMDAR to promote dendritic spine and synapse formation and maintain synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. In developing hippocampal neurons, promotes arborization of the dendritic tree and in mature neurons, promotes dendritic remodeling. Also regulates the migration of developing neurons (PubMed:29100089). Participates in the modulation of skeletal muscle function in response to exercise. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of triadin, a ryanodine receptor-coupling factor, and phospholamban (PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2.
• PDB: 3BHH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	14 → 272	Protein kinase domain	Domain
  PF08332	CaMKII_AD	534 → 661	Calcium/calmodulin dependent protein kinase II association domain	Domain

• Sequence:

  MATTVTCTRFTDEYQLYEDIGKGAFSVVRRCVKLCTGHEYAAKIINTKKLSARDHQKLER
  EARICRLLKHSNIVRLHDSISEEGFHYLVFDLVTGGELFEDIVAREYYSEADASHCIQQI
  LEAVLHCHQMGVVHRDLKPENLLLASKCKGAAVKLADFGLAIEVQGDQQAWFGFAGTPGY
  LSPEVLRKEAYGKPVDIWACGVILYILLVGYPPFWDEDQHKLYQQIKAGAYDFPSPEWDT
  VTPEAKNLINQMLTINPAKRITAHEALKHPWVCQRSTVASMMHRQETVECLKKFNARRKL
  KGAILTTMLATRNFSVGRQTTAPATMSTAASGTTMGLVEQAKSLLNKKADGVKPQTNSTK
  NSAAATSPKGTLPPAALEPQTTVIHNPVDGIKESSDSANTTIEDEDAKAPRVPDILSSVR
  RGSGAPEAEGPLPCPSPAPFSPLPAPSPRISDILNSVRRGSGTPEAEGPLSAGPPPCLSP
  ALLGPLSSPSPRISDILNSVRRGSGTPEAEGPSPVGPPPCPSPTIPGPLPTPSRKQEIIK
  TTEQLIEAVNNGDFEAYAKICDPGLTSFEPEALGNLVEGMDFHRFYFENLLAKNSKPIHT
  TILNPHVHVIGEDAACIAYIRLTQYIDGQGRPRTSQSEETRVWHRRDGKWQNVHFHCSGA
  PVAPLQ

• Sequence length: 666