CACNB4

CACNB4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2D46
Identifiers
Aliases	CACNB4 , CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6, calcium voltage-gated channel auxiliary subunit beta 4
External IDs	OMIM: 601949; MGI: 103301; HomoloGene: 20188; GeneCards: CACNB4; OMA:CACNB4 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q23.3 Start 151,832,771 bp [1] End 152,099,167 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 C1.1|2 29.98 cM Start 52,428,320 bp [2] End 52,676,831 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar vermis lateral nuclear group of thalamus primary visual cortex frontal pole cerebellar hemisphere right hemisphere of cerebellum postcentral gyrus paraflocculus of cerebellum prefrontal cortex superior frontal gyrus Top expressed in lobe of cerebellum cerebellar vermis inferior colliculus nucleus accumbens lateral geniculate nucleus primary motor cortex medial geniculate nucleus olfactory tubercle lateral septal nucleus prefrontal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function voltage-gated calcium channel activity voltage-gated ion channel activity protein binding calcium channel activity high voltage-gated calcium channel activity Cellular component voltage-gated calcium channel complex cytosol plasma membrane synapse cytoplasmic side of plasma membrane Biological process regulation of voltage-gated calcium channel activity regulation of ion transmembrane transport membrane depolarization ion transport calcium ion transport chemical synaptic transmission neuromuscular junction development calcium ion transmembrane transport cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 785 12298 Ensembl ENSG00000182389 ENSMUSG00000017412 UniProt O00305 Q8R0S4 RefSeq (mRNA) NM_000726 NM_001005746 NM_001005747 NM_001145798 NM_001320722 NM_001330113 NM_001330114 NM_001330115 NM_001330116 NM_001330117 NM_001330118 NM_001037099 NM_001285426 NM_001285427 NM_001285428 NM_146123 NM_001355059 RefSeq (protein) NP_000717 NP_001005746 NP_001005747 NP_001139270 NP_001307651 NP_001317042 NP_001317043 NP_001317044 NP_001317045 NP_001317046 NP_001317047 NP_001032176 NP_001272355 NP_001272356 NP_001272357 NP_666235 NP_001341988 Location (UCSC) Chr 2: 151.83 – 152.1 Mb Chr 2: 52.43 – 52.68 Mb PubMed search [3] [4]
Wikidata
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Voltage-dependent L-type calcium channel subunit beta-4 is a protein that in humans is encoded by the CACNB4 gene. ^{[5] [6]}

Function

This gene encodes a member of the beta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein described in this record plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. ^[6]

Clinical significance

Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). ^[6]

Interactions

CACNB4 has been shown to interact with Cav2.1. ^{[7] [8]}

See also

• Voltage-dependent calcium channel

References

1. GRCh38: Ensembl release 89: ENSG00000182389 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000017412 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Escayg A, Jones JM, Kearney JA, Hitchcock PF, Meisler MH (Apr 1999). "Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic". Genomics. 50 (1): 14–22. doi:10.1006/geno.1998.5311. PMID   9628818.
6. "Entrez Gene: CACNB4 calcium channel, voltage-dependent, beta 4 subunit".
7. Walker, D; Bichet D; Campbell K P; De Waard M (Jan 1998). "A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca²⁺ channel alpha 1A subunit". J. Biol. Chem. 273 (4). United States: 2361–7. doi: 10.1074/jbc.273.4.2361 . ISSN   0021-9258. PMID   9442082.
8. Walker, D; Bichet D; Geib S; Mori E; Cornet V; Snutch T P; Mori Y; De Waard M (Apr 1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca²⁺ channel activation". J. Biol. Chem. 274 (18). United States: 12383–90. doi: 10.1074/jbc.274.18.12383 . ISSN   0021-9258. PMID   10212211.

Further reading

• Volsen SG, Day NC, McCormack AL, et al. (1997). "The expression of voltage-dependent calcium channel beta subunits in human cerebellum". Neuroscience. 80 (1): 161–74. doi:10.1016/S0306-4522(97)00115-2. PMID   9252229. S2CID   27406120.
• Lory P, Ophoff RA, Nahmias J (1997). "Towards a unified nomenclature describing voltage-gated calcium channel genes". Hum. Genet. 100 (2): 149–50. doi:10.1007/s004390050481. PMID   9254840. S2CID   21167466.
• Taviaux S, Williams ME, Harpold MM, et al. (1997). "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca²⁺ channels to chromosomes 10p12 and 2q22-q23". Hum. Genet. 100 (2): 151–4. doi:10.1007/PL00008704. PMID   9254841. S2CID   5689556.
• Walker D, Bichet D, Campbell KP, De Waard M (1998). "A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca²⁺ channel alpha 1A subunit". J. Biol. Chem. 273 (4): 2361–7. doi: 10.1074/jbc.273.4.2361 . PMID   9442082.
• Betz R, Leibiger B, Farnebo F, et al. (1998). "Mapping of the human Ca²⁺ channel beta 4 subunit to 2q22-23 and its expression in developing mouse". Mamm. Genome. 9 (4): 310–1. doi:10.1007/s003359900755. PMID   9530629. S2CID   43010915.
• Day NC, Volsen SG, McCormack AL, et al. (1998). "The expression of voltage-dependent calcium channel beta subunits in human hippocampus". Brain Res. Mol. Brain Res. 60 (2): 259–69. doi:10.1016/S0169-328X(98)00186-7. PMID   9757060.
• Walker D, Bichet D, Geib S, et al. (1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca²⁺ channel activation". J. Biol. Chem. 274 (18): 12383–90. doi: 10.1074/jbc.274.18.12383 . PMID   10212211.
• Escayg A, De Waard M, Lee DD, et al. (2000). "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia". Am. J. Hum. Genet. 66 (5): 1531–9. doi:10.1086/302909. PMC   1378014 . PMID   10762541.
• Helton TD, Horne WA (2002). "Alternative splicing of the beta 4 subunit has alpha1 subunit subtype-specific effects on Ca²⁺ channel gating". J. Neurosci. 22 (5): 1573–82. doi:10.1523/JNEUROSCI.22-05-01573.2002. PMC   6758875 . PMID   11880487.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Finlin BS, Crump SM, Satin J, Andres DA (2004). "Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases". Proc. Natl. Acad. Sci. U.S.A. 100 (24): 14469–74. Bibcode:2003PNAS..10014469F. doi: 10.1073/pnas.2437756100 . PMC   283615 . PMID   14623965.
• Chen YH, Li MH, Zhang Y, et al. (2004). "Structural basis of the alpha1-beta subunit interaction of voltage-gated Ca²⁺ channels". Nature. 429 (6992): 675–80. Bibcode:2004Natur.429..675C. doi:10.1038/nature02641. PMID   15170217. S2CID   4422712.
• Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC   515316 . PMID   15342556.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Vendel AC, Rithner CD, Lyons BA, Horne WA (2006). "Solution structure of the N-terminal A domain of the human voltage-gated Ca²⁺channel beta4a subunit". Protein Sci. 15 (2): 378–83. doi:10.1110/ps.051894506. PMC   2242464 . PMID   16385006.
• Vendel AC, Terry MD, Striegel AR, et al. (2006). "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. 26 (10): 2635–44. doi: 10.1523/JNEUROSCI.0067-06.2006 . PMC   6675161 . PMID   16525042.
• von Brevern M, Ta N, Shankar A, et al. (2006). "Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4". Headache. 46 (7): 1136–41. doi:10.1111/j.1526-4610.2006.00504.x. PMID   16866717. S2CID   40915635.
• Kobayashi T, Yamada Y, Fukao M, et al. (2007). "The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit". Biochem. Biophys. Res. Commun. 360 (3): 679–83. doi:10.1016/j.bbrc.2007.06.112. PMID   17618603.

External links

• CACNB4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human CACNB4 genome location and CACNB4 gene details page in the UCSC Genome Browser .
• Overview of all the structural information available in the PDB for UniProt : O00305 (Voltage-dependent L-type calcium channel subunit beta-4) at the PDBe-KB .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.