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This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2) is a Protein Coding gene. Diseases associated with CACNB2 include Brugada Syndrome 4 and Lambert-Eaton Myasthenic Syndrome. Among its related pathways are Integrin Pathway and Integration of energy metabolism. Gene Ontology (GO) annotations related to this gene include calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005245 | voltage-gated calcium channel activity | IEA,IDA | 1309651 |
GO:0005262 | calcium channel activity | NAS | 9594024 |
GO:0005515 | protein binding | IEA,IPI | 17525370 |
GO:0008331 | contributes_to high voltage-gated calcium channel activity | IDA | 1309651 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | NAS | 9594024 |
GO:0005891 | voltage-gated calcium channel complex | IEA,IDA | 17224476 |
GO:0016020 | membrane | IEA | -- |
GO:0042383 | sarcolemma | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | nNOS Signaling in Skeletal Muscle |
BMP Pathway
.44
DREAM Repression and Dynorphin Expression
.44
nNOS Signaling in Skeletal Muscle
.37
|
Caspase Cascade
.36
Calpain Protease Regulates Cellular Mechanics
.31
|
2 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
ITK and TCR Signaling
.54
|
Fc-EpsilonRI Pathway
.49
PDGF Pathway
.39
|
3 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
4 | CCR5 Pathway in Macrophages |
Androgen Signaling
.52
CCR5 Pathway in Macrophages
.52
|
Chemokine Signaling
.33
|
5 | Sweet Taste Signaling |
Melatonin Signaling
.72
Sweet Taste Signaling
.72
|
Cellular Effects of Sildenafil
.46
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006816 | calcium ion transport | IEA | -- |
GO:0007268 | chemical synaptic transmission | IBA | 21873635 |
GO:0007528 | neuromuscular junction development | TAS,IBA | 21873635 |
GO:0007601 | visual perception | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Felodipine | Approved, Investigational | Pharma | Activator, Potentiation, Target, inhibitor, blocker | 23 | ||
Nilvadipine | Approved, Investigational | Pharma | Target, inhibitor | Syk kinase inhibitor; inhibits Abeta production | 1 | |
Isradipine | Approved, Investigational | Pharma | Gating inhibitor, Target, inhibitor | 14 | ||
Nicardipine | Approved, Investigational | Pharma | Antagonist, Target, inhibitor | 41 | ||
Nifedipine | Approved | Pharma | Channel blocker, Gating inhibitor, Antagonist, Pore Blocker, Agonist, Activator, Target, inhibitor | 148 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
O-Desmethylverapamil (D-702) |
|
|
Compound | Action | Cas Number |
---|---|---|
Nilvadipine | 75530-68-6 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - |
ExUns: | 20 | ^ | 21a | · | 21b |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: | |||||
SP10: | |||||
SP11: | |||||
SP12: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CACNB2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CACNB2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CACNB2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cacnb2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cacnb2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | CACNB2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CACNB2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CACNB2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CACNB2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cacnb2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cacnb2a 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Ca-&bgr; 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | ccb-1 32 |
|
|
|
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4137 30 |
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
642210 | Uncertain Significance: Brugada syndrome 4 | 18,539,404(+) | T/C | MISSENSE_VARIANT | |
645733 | Uncertain Significance: Brugada syndrome 4 | 18,498,374(+) | C/T | MISSENSE_VARIANT | |
648108 | Uncertain Significance: Brugada syndrome 4 | 18,527,644(+) | A/G | MISSENSE_VARIANT | |
651565 | Uncertain Significance: Brugada syndrome 4 | 18,527,660(+) | C/A | MISSENSE_VARIANT | |
660294 | Uncertain Significance: Brugada syndrome 4 | 18,539,332(+) | C/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
brugada syndrome 4 |
|
|
lambert-eaton myasthenic syndrome |
|
|
brugada syndrome |
|
|
early repolarization associated with ventricular fibrillation |
|
|
short qt syndrome |
|
|