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Aliases for CAMK2B Gene

Aliases for CAMK2B Gene

  • Calcium/Calmodulin Dependent Protein Kinase II Beta 2 3 5
  • Calcium/Calmodulin-Dependent Protein Kinase Type II Subunit Beta 3 4
  • Proline Rich Calmodulin-Dependent Protein Kinase 2 3
  • CaM Kinase II Beta Subunit 2 3
  • CaM-Kinase II Beta Chain 2 3
  • CaMK-II Subunit Beta 3 4
  • EC 2.7.11.17 4 56
  • CAMKB 3 4
  • CAMK2 3 4
  • CAM2 3 4
  • Calcium/Calmodulin-Dependent Protein Kinase (CaM Kinase) II Beta 2
  • Calcium/Calmodulin-Dependent Protein Kinase Type II Beta Chain 2
  • CaM Kinase II Subunit Beta 4
  • EC 2.7.11 56
  • MRD54 3

External Ids for CAMK2B Gene

Previous HGNC Symbols for CAMK2B Gene

  • CAMKB

Previous GeneCards Identifiers for CAMK2B Gene

  • GC07M043905
  • GC07M043999
  • GC07M044032
  • GC07M044225
  • GC07M044142

Summaries for CAMK2B Gene

Entrez Gene Summary for CAMK2B 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, 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]

GeneCards Summary for CAMK2B Gene

CAMK2B (Calcium/Calmodulin Dependent Protein Kinase II Beta) is a Protein Coding gene. Diseases associated with CAMK2B include Mental Retardation, Autosomal Dominant 54 and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are RET signaling and Oocyte meiosis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is CAMK2G.

UniProtKB/Swiss-Prot for CAMK2B Gene

  • 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.

Tocris Summary for CAMK2B Gene

  • Calmodulin-dependent kinases (CaMK) are a family of serine/threonine kinases that mediate many of the second messenger effects of Ca2+. At basal Ca2+ levels, CaMKs are maintained in a dormant state through autoinhibition, which can be relieved by increases in Ca2+ levels.

Gene Wiki entry for CAMK2B Gene

Additional gene information for CAMK2B Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAMK2B Gene

Genomics for CAMK2B Gene

GeneHancer (GH) Regulatory Elements for CAMK2B Gene

Promoters and enhancers for CAMK2B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J044325 Promoter/Enhancer 1.8 EPDnew Ensembl dbSUPER 600.4 +9.4 9376 2 GLIS2 ZBTB8A ZNF600 ZIC2 ZEB2 POLR2A PATZ1 ZNF692 ZNF341 ZBTB20 CAMK2B ENSG00000241057 NUDCD3 PIR57733
GH07J044333 Enhancer 0.7 Ensembl dbSUPER 600.7 +0.5 476 1.8 ZFHX2 ZNF768 ZNF335 EGR2 CAMK2B NUDCD3 TMED4 PIR57733
GH07J044288 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.7 +38.9 38875 13.8 ZNF473 ZFX SP1 SMARCA4 ZIC2 ATF1 LEF1 HDAC1 ZNF239 ZNF211 CAMK2B SPDYE1 POLR2J4 NPC1L1 POLM AEBP1 ZMIZ2 DDX56 YKT6 NUDCD3
GH07J044200 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.9 +133.1 133105 2.3 SP1 ZFX ELF3 MNT SIX5 NKRF POLR2A GTF2F1 ZNF687 MYC YKT6 AEBP1 POLM NUDCD3 CAMK2B PIR57733
GH07J044307 Enhancer 1 ENCODE dbSUPER 12.7 +26.8 26802 1.3 CTCF KLF14 RAD21 ZBTB33 PRDM10 ZNF512 KLF9 ZBTB48 GABPA SMC3 CAMK2B POLM AEBP1 NUDCD3 PIR57733
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAMK2B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CAMK2B gene promoter:
  • c-Myc
  • Max1

Genomic Locations for CAMK2B Gene

Genomic Locations for CAMK2B Gene
chr7:44,217,150-44,334,577
(GRCh38/hg38)
Size:
117,428 bases
Orientation:
Minus strand
chr7:44,256,749-44,374,176
(GRCh37/hg19)
Size:
117,428 bases
Orientation:
Minus strand

Genomic View for CAMK2B Gene

Genes around CAMK2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAMK2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAMK2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAMK2B Gene

Proteins for CAMK2B Gene

  • Protein details for CAMK2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13554-KCC2B_HUMAN
    Recommended name:
    Calcium/calmodulin-dependent protein kinase type II subunit beta
    Protein Accession:
    Q13554
    Secondary Accessions:
    • A4D2K0
    • A4D2K1
    • A4D2K2
    • A4D2K3
    • A4D2K4
    • A4D2K5
    • A4D2K6
    • O95437
    • O95438
    • O95599
    • Q9UGH7
    • Q9UGH8
    • Q9UGH9
    • Q9UNX0
    • Q9UNX7
    • Q9UP00
    • Q9Y5N4
    • Q9Y6F4

    Protein attributes for CAMK2B Gene

    Size:
    666 amino acids
    Molecular mass:
    72678 Da
    Quaternary structure:
    • CAMK2 is composed of 4 different chains: alpha (CAMK2A), beta (CAMK2B), gamma (CAMK2G), and delta (CAMK2D). The different isoforms assemble into homo- or heteromultimeric holoenzymes composed of 12 subunits with two hexameric rings stacked one on top of the other (PubMed:14722083, Ref.19). Interacts with SYNGAP1 and CAMK2N2 (By similarity). Interacts with MPDZ (PubMed:15312654). Interacts with FOXO3 (By similarity). Interacts (when in a kinase inactive state not associated with calmodulin) with ARC; leading to target ARC to inactive synapses (By similarity).
    SequenceCaution:
    • Sequence=AAC99802.1; Type=Frameshift; Positions=426, 433, 511, 516; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CAMK2B Gene

    Alternative splice isoforms for CAMK2B Gene

neXtProt entry for CAMK2B Gene

Selected DME Specific Peptides for CAMK2B Gene

Q13554:
  • WACGVILYILLVGYPPFWDEDQH
  • TVASMMHRQETV
  • NNGDFEAY
  • CLKKFNARRKLKGAILTT
  • KGAAVKLADFGLAIEV
  • CTRFTDEYQL
  • NIVRLHD
  • YGKPVDIWA
  • HYLVFDLVTGGELFEDIVARE
  • GVILYIL
  • FPSPEWD
  • QAWFGFAGTPGYLSPEVL
  • WACGVIL
  • FEPEALGNLVEG
  • VHRDLKPENLLLASK
  • VKLADFG
  • VTGGELF
  • YSEADASHCIQQILE
  • EPQTTVIHNP
  • TEQLIEA
  • MLTINPAKRI
  • VVHRDLK
  • QIKAGAYD
  • TTIEDED
  • KKADGVK
  • PSPEWDTVTPEAKNLINQMLT
  • LADFGLA
  • QSEETRVWH
  • DGKWQNVHFH
  • DAACIAYIRLTQY
  • DFHRFYFEN
  • RKQEIIK
  • LKPENLL
  • RDLKPEN
  • GKGAFSVVRRC
  • AAKIINTKKL
  • TCTRFTD
  • FNARRKL
  • NIVRLHDSISEEG
  • QKLEREARICR
  • VHRDLKP

Post-translational modifications for CAMK2B Gene

  • Autophosphorylation of Thr-287 following activation by Ca(2+)/calmodulin. Phosphorylation of Thr-287 locks the kinase into an activated state.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CAMK2B Gene

Gene Families for CAMK2B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for CAMK2B Gene

GenScript: Design optimal peptide antigens:
  • Calcium/calmodulin-dependent protein kinase (CaM kinase) II beta (A4D2J9_HUMAN)
  • Calcium/calmodulin-dependent protein kinase (CaM kinase) II beta (A4D2K5_HUMAN)
  • cDNA FLJ58056, highly similar to Calcium/calmodulin-dependent protein kinase type II beta chain (EC 2.7.11.17) (B7Z1Z6_HUMAN)
  • Calcium/calmodulin-dependent protein kinase (CaM kinase) II beta, isoform CRA_d (D3DVK8_HUMAN)
  • Calcium/calmodulin-dependent protein kinase type II subunit beta (KCC2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13554

UniProtKB/Swiss-Prot:

KCC2B_HUMAN :
  • The CAMK2 protein kinases contain a unique C-terminal subunit association domain responsible for oligomerization.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
Domain:
  • The CAMK2 protein kinases contain a unique C-terminal subunit association domain responsible for oligomerization.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
genes like me logo Genes that share domains with CAMK2B: view

Function for CAMK2B Gene

Molecular function for CAMK2B Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.17;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.17;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by Ca(2+)/calmodulin. Binding of calmodulin results in conformational change that relieves intrasteric autoinhibition and allows autophosphorylation of Thr-287 which turns the kinase in a constitutively active form and confers to the kinase a Ca(2+)-independent activity.
UniProtKB/Swiss-Prot Induction:
Activity is induced in skeletal muscle during exercise.
GENATLAS Biochemistry:
protein kinase,type II,calcium/calmodulin dependent,beta isoform

Enzyme Numbers (IUBMB) for CAMK2B Gene

Phenotypes From GWAS Catalog for CAMK2B Gene

Gene Ontology (GO) - Molecular Function for CAMK2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004683 calmodulin-dependent protein kinase activity IBA 21873635
GO:0005515 protein binding IPI 20668654
genes like me logo Genes that share ontologies with CAMK2B: view
genes like me logo Genes that share phenotypes with CAMK2B: view

Human Phenotype Ontology for CAMK2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAMK2B Gene

MGI Knock Outs for CAMK2B:

Animal Model Products

CRISPR Products

miRNA for CAMK2B Gene

miRTarBase miRNAs that target CAMK2B

Clone Products

  • Applied Biological Materials (abm): Clones for CAMK2B - Now 50% OFF >
  • * CAMK2B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CAMK2B tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Transcription Factor Targets and HOMER Transcription for CAMK2B Gene

Localization for CAMK2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAMK2B Gene

Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Sarcoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse. Note=In slow-twitch muscle, evenly distributed between longitudinal SR and junctional SR.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAMK2B gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 3
endoplasmic reticulum 3
plasma membrane 1
mitochondrion 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAMK2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CAMK2B: view

Pathways & Interactions for CAMK2B Gene

PathCards logo

SuperPathways for CAMK2B Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Development Angiotensin activation of ERK
4 Aldosterone synthesis and secretion
5 Development Endothelin-1/EDNRA signaling
genes like me logo Genes that share pathways with CAMK2B: view

SIGNOR curated interactions for CAMK2B Gene

Activates:
Inactivates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for CAMK2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation TAS 9060999
GO:0007165 signal transduction TAS 9060999
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0010976 positive regulation of neuron projection development ISS --
genes like me logo Genes that share ontologies with CAMK2B: view

Drugs & Compounds for CAMK2B Gene

(11) Drugs for CAMK2B Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Calcium Approved Nutra 7611
[4-({4-[(5-cyclopropyl-1H-pyrazol-3-yl)amino]-6-(methylamino)pyrimidin-2-yl}amino)phenyl]acetonitrile Experimental Pharma Target 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0
Autocamtide-2-related inhibitory peptide Pharma inhibitor of calmodulin-dependent protein kinase II (CaM-kinase II, CaMKII) 0

(3) Additional Compounds for CAMK2B Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Autocamtide-2-related inhibitory peptide, myristoylated
201422-04-0
KN 93
139298-40-1

(4) Tocris Compounds for CAMK2B Gene

Compound Action Cas Number
A 484954 CaM kinase III (eEF-2 kinase) inhibitor 142557-61-7
Autocamtide-2-related inhibitory peptide, myristoylated CaM kinase II inhibitor; enhanced cell permeable derivative of Autocamtide-2-related inhibitory peptide 201422-04-0
KN 93 CaM kinase II inhibitor; also K+ channel blocker (KV) 139298-40-1
NH 125 CaM kinase III (eEF-2 kinase) inhibitor 278603-08-0

(5) ApexBio Compounds for CAMK2B Gene

Compound Action Cas Number
Autocamtide-2-related inhibitory peptide inhibitor of calmodulin-dependent protein kinase II (CaM-kinase II, CaMKII) 167114-91-2
CaMKII-IN-1 1208123-85-6
KN-92 CaMKII inhibitor 176708-42-2
KN-93 hydrochloride CaMK II inhibitor
KN-93 Phosphate CaM kinase II inhibitor, water soluble and cell permeable 1188890-41-6
genes like me logo Genes that share compounds with CAMK2B: view

Drug Products

Transcripts for CAMK2B Gene

Unigene Clusters for CAMK2B Gene

Calcium/calmodulin-dependent protein kinase II beta:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for CAMK2B - Now 50% OFF >
  • * CAMK2B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CAMK2B tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for CAMK2B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c · 14d ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - -
SP8: - - - - -
SP9: - - - -
SP10: - - -
SP11: -
SP12:
SP13:
SP14:
SP15:

ExUns: 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - - -
SP14: -
SP15:

Relevant External Links for CAMK2B Gene

GeneLoc Exon Structure for
CAMK2B
ECgene alternative splicing isoforms for
CAMK2B

Expression for CAMK2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAMK2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAMK2B Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.6), Brain - Cerebellum (x5.5), Brain - Putamen (basal ganglia) (x4.8), and Brain - Nucleus accumbens (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for CAMK2B Gene

This gene is overexpressed in Brain (40.1) and Frontal cortex (19.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAMK2B Gene



Protein tissue co-expression partners for CAMK2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CAMK2B Gene:

CAMK2B

SOURCE GeneReport for Unigene cluster for CAMK2B Gene:

Hs.351887

mRNA Expression by UniProt/SwissProt for CAMK2B Gene:

Q13554-KCC2B_HUMAN
Tissue specificity: Widely expressed. Expressed in adult and fetal brain. Expression is slightly lower in fetal brain. Expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for CAMK2B Gene

  • Nervous system(4.3)
  • Muscle(4.1)
  • Liver(4)
  • Lung(4)
genes like me logo Genes that share expression patterns with CAMK2B: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CAMK2B Gene

Orthologs for CAMK2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CAMK2B Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia CAMK2B 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Camk2b 34
  • 91.96 (n)
mouse
(Mus musculus)
Mammalia Camk2b 17 35 34
  • 91.5 (n)
cow
(Bos Taurus)
Mammalia CAMK2B 35 34
  • 90.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CAMK2B 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAMK2B 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAMK2B 34
  • 84.46 (n)
lizard
(Anolis carolinensis)
Reptilia CAMK2B 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia camk2b 34
  • 78.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.987 34
zebrafish
(Danio rerio)
Actinopterygii camk2b2 35
  • 91 (a)
OneToMany
camk2b1 35
  • 82 (a)
OneToMany
LOC798222 34
  • 79.26 (n)
Dr.12561 34
fruit fly
(Drosophila melanogaster)
Insecta CaMKII 35
  • 73 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-43 35
  • 49 (a)
OneToMany
corn
(Zea mays)
Liliopsida Zm.1824 34
Species where no ortholog for CAMK2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAMK2B Gene

ENSEMBL:
Gene Tree for CAMK2B (if available)
TreeFam:
Gene Tree for CAMK2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAMK2B: view image

Paralogs for CAMK2B Gene

(73) SIMAP similar genes for CAMK2B Gene using alignment to 13 proteins:

  • KCC2B_HUMAN
  • A4D2J9_HUMAN
  • B7Z1Z6_HUMAN
  • D3DVK8_HUMAN
  • E7EQE4_HUMAN
  • E7ERS6_HUMAN
  • E7ETC9_HUMAN
  • E9PBE8_HUMAN
  • H7BXS4_HUMAN
  • H7BZC6_HUMAN
  • H7C394_HUMAN
  • Q75KE9_HUMAN
  • Q75LA8_HUMAN
genes like me logo Genes that share paralogs with CAMK2B: view

Variants for CAMK2B Gene

Sequence variations from dbSNP and Humsavar for CAMK2B Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1554385102 likely-pathogenic, uncertain-significance, Intellectual disability, not provided 44,241,699(-) C/T splice_donor_variant
rs1554385111 pathogenic, uncertain-significance, MENTAL RETARDATION, AUTOSOMAL DOMINANT 54, Intellectual disability, Inborn genetic diseases 44,241,702(-) T/C coding_sequence_variant, missense_variant
rs1554385203 pathogenic, MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 44,241,751(-) T/A coding_sequence_variant, missense_variant
rs1554385305 pathogenic, Intellectual disability 44,241,784(-) C/T splice_acceptor_variant
rs1554386687 pathogenic, MENTAL RETARDATION, AUTOSOMAL DOMINANT 54, Intellectual disability 44,242,328(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CAMK2B Gene

Variant ID Type Subtype PubMed ID
dgv11298n54 CNV loss 21841781
dgv11299n54 CNV gain 21841781
dgv11300n54 CNV gain+loss 21841781
dgv11301n54 CNV gain 21841781
dgv11302n54 CNV gain 21841781
dgv11303n54 CNV loss 21841781
dgv11304n54 CNV gain+loss 21841781
dgv11305n54 CNV gain 21841781
dgv11306n54 CNV gain+loss 21841781
dgv11307n54 CNV loss 21841781
dgv11308n54 CNV loss 21841781
dgv11309n54 CNV loss 21841781
dgv11310n54 CNV loss 21841781
dgv3786e59 CNV duplication 20981092
esv22639 CNV loss 19812545
esv24646 CNV gain 19812545
esv2629662 CNV insertion 19546169
esv2734322 CNV deletion 23290073
esv3427474 CNV duplication 20981092
esv9227 CNV loss 19470904
nsv1074090 CNV deletion 25765185
nsv1075949 CNV deletion 25765185
nsv1078582 CNV duplication 25765185
nsv1112926 CNV deletion 24896259
nsv1112927 CNV deletion 24896259
nsv1144171 CNV deletion 24896259
nsv509195 CNV insertion 20534489
nsv606751 CNV gain 21841781
nsv606752 CNV gain 21841781
nsv606755 CNV gain 21841781
nsv606756 CNV loss 21841781
nsv606779 CNV loss 21841781
nsv606780 CNV loss 21841781
nsv606784 CNV loss 21841781
nsv606785 CNV loss 21841781
nsv606789 CNV loss 21841781
nsv606790 CNV loss 21841781
nsv606797 CNV gain 21841781
nsv606799 CNV loss 21841781
nsv606802 CNV loss 21841781
nsv606804 CNV loss 21841781
nsv606805 CNV loss 21841781
nsv830984 CNV gain 17160897
nsv951638 CNV deletion 24416366

Variation tolerance for CAMK2B Gene

Residual Variation Intolerance Score: 19.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.79; 79.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAMK2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAMK2B
Human Gene Mutation Database (HGMD)
CAMK2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAMK2B Gene

Disorders for CAMK2B Gene

MalaCards: The human disease database

(4) MalaCards diseases for CAMK2B Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KCC2B_HUMAN
  • Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:29100089, ECO:0000269 PubMed:29560374}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CAMK2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CAMK2B: view

No data available for Genatlas for CAMK2B Gene

Publications for CAMK2B Gene

  1. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. (PMID: 29100089) Küry S … Mercier S (American journal of human genetics 2017) 3 4 58
  2. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. (PMID: 22399527) Kristiansson K … Salomaa V (Circulation. Cardiovascular genetics 2012) 3 45 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 58
  4. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M … van Ree JM (Biological psychiatry 2009) 3 45 58
  5. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PMID: 19156168) Need AC … Goldstein DB (European journal of human genetics : EJHG 2009) 3 45 58

Products for CAMK2B Gene