Genomes and Genes
Gene Symbol: Cacnb4
Description: calcium voltage-gated channel auxiliary subunit beta 4
Alias: CAB4, voltage-dependent L-type calcium channel subunit beta-4, calcium channel beta 4 subunit, calcium channel voltage-dependent subunit beta 4, calcium channel, voltage-dependent, beta 4 subunit
- Schjött J, Hsu S, Plummer M. The neuronal beta 4 subunit increases the unitary conductance of L-type voltage-gated calcium channels in PC12 cells. J Biol Chem. 2003;278:33936-42 pubmed..Our data suggest that calcium channel beta 4 subunits affect the conductance of L-type calcium channels and that native hippocampal L-type channels contain the beta 4 subunit. ..
- Vendel A, Terry M, Striegel A, Iverson N, Leuranguer V, Rithner C, et al. Alternative splicing of the voltage-gated Ca2+ channel beta4 subunit creates a uniquely folded N-terminal protein binding domain with cell-specific expression in the cerebellar cortex. J Neurosci. 2006;26:2635-44 pubmed..These results have strong bearing on our current understanding of the structure of alternatively spliced Ca2+ channel beta subunits and the cell-specific roles they play in the CNS. ..
- Lin F, Cao Z, Hosford D. Increased number of GABAB receptors in the lethargic (lh/lh) mouse model of absence epilepsy. Brain Res. 1993;608:101-6 pubmed..Together with evidence that GABAB receptor activation can produce disinhibition, our data support a role for GABAB receptors in the expression of absence seizures in lh/lh mice. ..
- Aizawa M, Ito Y, Fukuda H. Pharmacological profiles of generalized absence seizures in lethargic, stargazer and gamma-hydroxybutyrate-treated model mice. Neurosci Res. 1997;29:17-25 pubmed..These results suggest that GABAB receptors play a significant role in the pathogenesis of generalized absence seizures in these models, although the mechanism involved in stargazer mice differ from that in the other two. ..
- Lin F, Wang Y, Lin S, Cao Z, Hosford D. GABAB receptor-mediated effects in synaptosomes of lethargic (lh/lh) mice. J Neurochem. 1995;65:2087-95 pubmed..It is possible that selective effects of presynaptic GABAB receptors or GABA release in neocortex and thalamic nuclei of lh/lh mice may contribute to mechanisms underlying absence seizures. ..
- Lin F, Barun S, Lutz C, Wang Y, Hosford D. Decreased (45)Ca(2)(+) uptake in P/Q-type calcium channels in homozygous lethargic (Cacnb4lh) mice is associated with increased beta3 and decreased beta4 calcium channel subunit mRNA expression. Brain Res Mol Brain Res. 1999;71:1-10 pubmed..Together, these findings indicate that a host of changes in VGCC subunit composition accompany reduced function of P/Q-type channels in homozygous lethargic mice. ..
- Herring J, Dung H, Yoo J, Yu J. Chronological studies of peripheral motor nerve conduction in "lethargic" mice. Electromyogr Clin Neurophysiol. 1981;21:121-34 pubmed
- Khan Z, Jinnah H. Paroxysmal dyskinesias in the lethargic mouse mutant. J Neurosci. 2002;22:8193-200 pubmed..The lethargic mutants provide additional evidence that calcium channelopathies can produce paroxysmal dyskinesias and provide a novel model for studying this unusual movement disorder. ..
- Kaja S, Todorov B, van de Ven R, Ferrari M, Frants R, van den Maagdenberg A, et al. Redundancy of Cav2.1 channel accessory subunits in transmitter release at the mouse neuromuscular junction. Brain Res. 2007;1143:92-101 pubmed..1 channel function due to alpha(2)delta-2 absence. We conclude that alpha(2)delta-2, beta(4), and gamma(2) accessory subunits are redundant for the transmitter release-mediating function of presynaptic Ca(v)2.1 channels at the mouse NMJ. ..
- Grueter C, Abiria S, Wu Y, Anderson M, Colbran R. Differential regulated interactions of calcium/calmodulin-dependent protein kinase II with isoforms of voltage-gated calcium channel beta subunits. Biochemistry. 2008;47:1760-7 pubmed publisher..In combination, these data show that phosphorylation dynamically regulates the interactions of specific isoforms of the Ca2+ channel beta subunits with CaMKII. ..
- Kuhn S, Knirsch M, Ruttiger L, Kasperek S, Winter H, Freichel M, et al. Ba2+ currents in inner and outer hair cells of mice lacking the voltage-dependent Ca2+ channel subunits beta3 or beta4. Channels (Austin). 2009;3:366-76 pubmed..These results indicate that neither Ca(V)beta3 nor Ca(V)beta4 are indispensable for hair cell Ca(2+) currents but contribute to the overall current properties. ..
- Subramanyam P, Obermair G, Baumgartner S, Gebhart M, Striessnig J, Kaufmann W, et al. Activity and calcium regulate nuclear targeting of the calcium channel beta4b subunit in nerve and muscle cells. Channels (Austin). 2009;3:343-55 pubmed..The activity-dependent shuttling of beta(4b) into and out of the nucleus indicates a specific role of this beta subunit in neurons, in communicating the activity of calcium channels to the nucleus. ..
- Rima M, Daghsni M, De Waard S, Gaborit N, Fajloun Z, Ronjat M, et al. The ?4 subunit of the voltage-gated calcium channel (Cacnb4) regulates the rate of cell proliferation in Chinese Hamster Ovary cells. Int J Biochem Cell Biol. 2017;89:57-70 pubmed publisher..Mutations of the neuronal Cacnb4 (?4) subunit are linked to human neuropsychiatric disorders including epilepsy and intellectual ..
- Dung H, Swigart R. Histo-pathologic observations of the nervous and lymphoid tissues of "lethargic" mutant mice. Tex Rep Biol Med. 1972;30:23-39 pubmed
- Geib S, Sandoz G, Mabrouk K, Matavel A, Marchot P, Hoshi T, et al. Use of a purified and functional recombinant calcium-channel beta4 subunit in surface-plasmon resonance studies. Biochem J. 2002;364:285-92 pubmed
- Catterall W. Voltage-gated calcium channels. Cold Spring Harb Perspect Biol. 2011;3:a003947 pubmed publisher..This article presents the molecular relationships and physiological functions of these Ca(2+) channel proteins and provides information on their molecular, genetic, physiological, and pharmacological properties. ..
- Helton T, Horne W. Alternative splicing of the beta 4 subunit has alpha1 subunit subtype-specific effects on Ca2+ channel gating. J Neurosci. 2002;22:1573-82 pubmed..Our data are best explained by a model in which distinct modes of activation and inactivation result from beta-subunit splice variant-specific interactions with an alpha1 subunit gating structure. ..
- McEnery M, Copeland T, Vance C. Altered expression and assembly of N-type calcium channel alpha1B and beta subunits in epileptic lethargic (lh/lh) mouse. J Biol Chem. 1998;273:21435-8 pubmed..It is intriguing to speculate that the increased excitability and susceptibility to seizures observed in the lh/lh mouse arises from the inappropriate expression of an immature population of N-type VDCC throughout neuronal development. ..
- Hosford D, Wang Y, Liu C, Snead O. Characterization of the antiabsence effects of SCH 50911, a GABA-B receptor antagonist, in the lethargic mouse, gamma-hydroxybutyrate, and pentylenetetrazole models. J Pharmacol Exp Ther. 1995;274:1399-403 pubmed..These findings suggest that antiabsence activity may be a defining feature of GABAB receptor antagonists and provide a rationale for pursuing clinical trials of GABAB receptor antagonists in human patients with absence seizures. ..
- Xu H, Dorn G, Shetty A, Parihar A, Dave T, Robinson S, et al. A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans. J Pers Med. 2018;8: pubmed publisher..4 × 10-7). We detected association of a variant in a novel intronic locus in the CACNB4 gene meeting genome-wide levels of significance (p = 4.1 × 10-8)...