CACNB4

Protein-coding gene in the species Homo sapiens
CACNB4
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2D46

Identifiers
AliasesCACNB4, CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6, calcium voltage-gated channel auxiliary subunit beta 4
External IDsOMIM: 601949 MGI: 103301 HomoloGene: 20188 GeneCards: CACNB4
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for CACNB4
Genomic location for CACNB4
Band2q23.3Start151,832,771 bp[1]
End152,099,167 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for CACNB4
Genomic location for CACNB4
Band2 C1.1|2 29.98 cMStart52,428,320 bp[2]
End52,676,831 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • cerebellar vermis

  • frontal pole

  • cerebellar hemisphere

  • postcentral gyrus

  • prefrontal cortex

  • superior frontal gyrus

  • dorsolateral prefrontal cortex

  • nucleus accumbens

  • Brodmann area 9

  • Achilles tendon
Top expressed in
  • cerebellar vermis

  • inferior colliculus

  • nucleus accumbens

  • lateral geniculate nucleus

  • primary motor cortex

  • medial geniculate nucleus

  • olfactory tubercle

  • prefrontal cortex

  • medial dorsal nucleus

  • temporal lobe
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
SpeciesHumanMouse
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 MbChr 2: 52.43 – 52.68 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182389 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b c "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.
  • v
  • t
  • e
  • 1vyv: BETA4 SUBUNIT OF CA2+ CHANNEL
    1vyv: BETA4 SUBUNIT OF CA2+ CHANNEL
  • 2d46: Solution Structure of the Human Beta4a-A Domain
    2d46: Solution Structure of the Human Beta4a-A Domain
  • v
  • t
  • e
Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl−: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders

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


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