Gene Gene information from NCBI Gene database.
Entrez ID 816
Gene name Calcium/calmodulin dependent protein kinase II beta
Gene symbol CAMK2B
Synonyms (NCBI Gene)
CAM2CAMK2CAMKBCaMKIIbetaMRD54
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, t
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003779 Function Actin binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004683 Function Calcium/calmodulin-dependent protein kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607707 1461 ENSG00000058404
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
VTPEAKNLINQMLTINPAKRITAHEALKHPWV
CQRSTVASMMHRQETVECLKKFNARRKL
KGAILTTMLATRNFSVGRQTTAPATMSTAASGTTMGLVEQAKSLLNKKADGVKPQTNSTK
NSAAATSPKGTLPPAALEPQTTVIHNPVDGIKESSDSANTTIEDEDAKAPRVPDILSSVR
RGSGAPEAEGPLPCPSPAPFSPLPAPSPRISDILNSVRRGSGTPEAEGPLSAGPPPCLSP
ALLGPLSSPSPRISDILNSVRRGSGTPEAEGPSPVGPPPCPSPTIPGPLPTPSRKQEIIK
TTEQLIEAVNNGDFEAYAKICDPGLTSFEPEALGNLVEGMDFHRFYFENLLAKNSKPIHT
TILNPHVHVIGEDAACIAYIRLTQYIDGQGRPRTSQSEETRVWHRRDGKWQNVHFHCSGA
P
VAPLQ
Sequence length 666
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the nervous system Likely pathogenic; Pathogenic rs1554389088 RCV001814167
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs2128963917, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs2096680726 RCV005622120
RCV000577913
RCV000577892
RCV000577873
RCV000577912
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal dominant 54 Likely pathogenic; Pathogenic rs2486084284, rs1554385111, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1554387293, rs1554385203 RCV003236654
RCV000516162
RCV000516159
RCV000516163
RCV000516161
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 33082841 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 37597360 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability Non-Syndromic Intellectual Disability Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 21871176, 27605043
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21871176, 27605043 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30951563
★☆☆☆☆
Found in Text Mining only
Congenital digestive system anomalies Congenital Digestive System Anomalies CLINVAR_DG 29100089
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 35151267 Associate
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis GWASCAT_DG 23989986
★☆☆☆☆
Found in Text Mining only