Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	816
Gene name Gene Name - the full gene name approved by the HGNC.	Calcium/calmodulin dependent protein kinase II beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CAMK2B
Synonyms (NCBI Gene) Gene synonyms aliases	CAM2, CAMK2, CAMKB, CaMKIIbeta, MRD54
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MRD54
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(9)

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

Show/Hide all(66)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045124	hsa-miR-186-5p	CLASH	23622248
MIRT860136	hsa-miR-1228	CLIP-seq
MIRT860137	hsa-miR-129-3p	CLIP-seq
MIRT860138	hsa-miR-129-5p	CLIP-seq
MIRT860139	hsa-miR-147	CLIP-seq
MIRT860140	hsa-miR-3065-3p	CLIP-seq
MIRT860141	hsa-miR-3127-5p	CLIP-seq
MIRT860142	hsa-miR-3151	CLIP-seq
MIRT860143	hsa-miR-3202	CLIP-seq
MIRT860144	hsa-miR-3591-3p	CLIP-seq
MIRT860145	hsa-miR-3616-3p	CLIP-seq
MIRT860146	hsa-miR-3650	CLIP-seq
MIRT860147	hsa-miR-3911	CLIP-seq
MIRT860148	hsa-miR-3944-3p	CLIP-seq
MIRT860149	hsa-miR-4291	CLIP-seq
MIRT860150	hsa-miR-4436b-3p	CLIP-seq
MIRT860151	hsa-miR-4447	CLIP-seq
MIRT860152	hsa-miR-4450	CLIP-seq
MIRT860153	hsa-miR-4455	CLIP-seq
MIRT860154	hsa-miR-4472	CLIP-seq
MIRT860155	hsa-miR-4476	CLIP-seq
MIRT860156	hsa-miR-4655-5p	CLIP-seq
MIRT860157	hsa-miR-4687-5p	CLIP-seq
MIRT860158	hsa-miR-4690-3p	CLIP-seq
MIRT860159	hsa-miR-4695-5p	CLIP-seq
MIRT860160	hsa-miR-4731-5p	CLIP-seq
MIRT860161	hsa-miR-4747-5p	CLIP-seq
MIRT860162	hsa-miR-4775	CLIP-seq
MIRT860163	hsa-miR-488	CLIP-seq
MIRT860164	hsa-miR-491-5p	CLIP-seq
MIRT860165	hsa-miR-495	CLIP-seq
MIRT860166	hsa-miR-564	CLIP-seq
MIRT860167	hsa-miR-590-3p	CLIP-seq
MIRT860168	hsa-miR-609	CLIP-seq
MIRT860169	hsa-miR-644	CLIP-seq
MIRT860170	hsa-miR-765	CLIP-seq
MIRT860171	hsa-miR-1307	CLIP-seq
MIRT860172	hsa-miR-1323	CLIP-seq
MIRT860173	hsa-miR-3136-3p	CLIP-seq
MIRT860174	hsa-miR-3154	CLIP-seq
MIRT860175	hsa-miR-320e	CLIP-seq
MIRT860176	hsa-miR-3919	CLIP-seq
MIRT860177	hsa-miR-423-3p	CLIP-seq
MIRT860178	hsa-miR-4285	CLIP-seq
MIRT860179	hsa-miR-4475	CLIP-seq
MIRT860158	hsa-miR-4690-3p	CLIP-seq
MIRT860180	hsa-miR-512-3p	CLIP-seq
MIRT860181	hsa-miR-548o	CLIP-seq
MIRT860182	hsa-miR-593	CLIP-seq
MIRT860183	hsa-miR-626	CLIP-seq
MIRT860184	hsa-miR-922	CLIP-seq
MIRT860185	hsa-miR-1184	CLIP-seq
MIRT860186	hsa-miR-1205	CLIP-seq
MIRT860187	hsa-miR-3158-5p	CLIP-seq
MIRT860188	hsa-miR-3166	CLIP-seq
MIRT860189	hsa-miR-3663-5p	CLIP-seq
MIRT860190	hsa-miR-4269	CLIP-seq
MIRT860191	hsa-miR-4733-3p	CLIP-seq
MIRT860192	hsa-miR-4771	CLIP-seq
MIRT860193	hsa-miR-544	CLIP-seq
MIRT860138	hsa-miR-129-5p	CLIP-seq
MIRT1922653	hsa-miR-579	CLIP-seq
MIRT1955260	hsa-miR-624	CLIP-seq
MIRT860145	hsa-miR-3616-3p	CLIP-seq
MIRT860148	hsa-miR-3944-3p	CLIP-seq
MIRT860150	hsa-miR-4436b-3p	CLIP-seq

Show/Hide all(30)

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

MIM	HGNC	e!Ensembl
607707	1461	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 reticul

PDB

3BHH , 7URW , 7URY , 7URZ

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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in adult and fetal brain. Expression is slightly lower in fetal brain. Expressed in skeletal muscle. {ECO:0000269|PubMed:16690701}.

Sequence

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

Sequence length

666

Interactions

View interactions

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Source
Unknown
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability	GenCC
Mental retardation	intellectual disability, autosomal dominant 40, intellectual disability, autosomal dominant 54	GenCC
Metabolic Syndrome	Metabolic Syndrome	GWAS
Diabetes	Diabetes	GWAS
Intracranial Aneurysm	Intracranial Aneurysm	GWAS
Schizophrenia	Schizophrenia	GWAS

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text Mining
Abortion Spontaneous	Associate	37625567
Abruptio Placentae	Associate	30194050
Anxiety	Associate	33082841
Atrial Fibrillation	Associate	37597360
Breast Neoplasms	Associate	21871176, 27605043
Coronary Artery Disease	Associate	35151267
Diabetes Mellitus Type 2	Associate	40141237
Drug Resistant Epilepsy	Associate	40646440
Epilepsy	Associate	35805192
Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp	Associate	40646440
Glioblastoma	Associate	30816530
Glioma	Associate	30816530
Intellectual Disability	Associate	37625567
Mental Retardation Autosomal Recessive 7	Associate	37625567
Metabolic Syndrome	Associate	37612641
Neoplasm Metastasis	Stimulate	27605043
Neoplasms	Associate	21871176
Nerve Degeneration	Associate	33767277
Neurologic Manifestations	Associate	29784083
Neurotoxicity Syndromes	Associate	37906427
Prediabetic State	Associate	40141237
Sleep Disorders Circadian Rhythm	Associate	33536559

CAMK2B (calcium/calmodulin dependent protein kinase II beta)