CACNB2

Protein-coding gene in the species Homo sapiens
CACNB2
Identifiers
AliasesCACNB2, CACNLB2, CAVB2, MYSB, calcium voltage-gated channel auxiliary subunit beta 2, CAB2
External IDsOMIM: 600003; MGI: 894644; HomoloGene: 75191; GeneCards: CACNB2; OMA:CACNB2 - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for CACNB2
Genomic location for CACNB2
Band10p12.33-p12.31Start18,140,424 bp[1]
End18,543,557 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for CACNB2
Genomic location for CACNB2
Band2 A2|2 10.7 cMStart14,607,899 bp[2]
End14,992,719 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gastric mucosa

  • frontal pole

  • middle temporal gyrus

  • Brodmann area 46

  • Brodmann area 10

  • orbitofrontal cortex

  • right ventricle

  • cerebellar cortex

  • cerebellar hemisphere

  • dorsolateral prefrontal cortex
Top expressed in
  • medial dorsal nucleus

  • medial geniculate nucleus

  • inner nuclear layer

  • lateral geniculate nucleus

  • superior frontal gyrus

  • myocardium of ventricle

  • cardiac muscles

  • subiculum

  • habenula

  • atrium
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • calcium channel activity
  • voltage-gated ion channel activity
  • high voltage-gated calcium channel activity
  • protein binding
  • voltage-gated calcium channel activity involved in AV node cell action potential
  • voltage-gated calcium channel activity
  • voltage-gated calcium channel activity involved in cardiac muscle cell action potential
  • actin filament binding
  • voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels
Cellular component
  • L-type voltage-gated calcium channel complex
  • membrane
  • plasma membrane
  • integral component of plasma membrane
  • sarcolemma
  • voltage-gated calcium channel complex
  • photoreceptor ribbon synapse
  • presynapse
Biological process
  • regulation of voltage-gated calcium channel activity
  • calcium ion import
  • regulation of ion transmembrane transport
  • ion transport
  • neuromuscular junction development
  • calcium ion transmembrane transport
  • calcium ion transport
  • visual perception
  • positive regulation of calcium ion transport
  • chemical synaptic transmission
  • positive regulation of high voltage-gated calcium channel activity
  • regulation of heart rate by cardiac conduction
  • membrane depolarization during atrial cardiac muscle cell action potential
  • membrane depolarization during AV node cell action potential
  • positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
  • protein localization to plasma membrane
  • positive regulation of presynaptic cytosolic calcium concentration
  • induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration
  • cardiac conduction
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

783

12296

Ensembl

ENSG00000165995

ENSMUSG00000057914

UniProt

Q08289

Q8CC27

RefSeq (mRNA)
NM_000724
NM_001167945
NM_201570
NM_201571
NM_201572

NM_201590
NM_201593
NM_201596
NM_201597
NM_001330060

NM_001252533
NM_023116
NM_001309519

RefSeq (protein)
NP_000715
NP_001161417
NP_001316989
NP_963864
NP_963865

NP_963866
NP_963884
NP_963887
NP_963890
NP_963891

NP_001239462
NP_001296448
NP_075605
NP_001393019
NP_001393020

NP_001393021
NP_001393022
NP_001393023
NP_001393024
NP_001393025
NP_001393026
NP_001393027

Location (UCSC)Chr 10: 18.14 – 18.54 MbChr 2: 14.61 – 14.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.[5][6][7]


Clinical significance

Mutation in the CACNB2 gene are associated with Brugada syndrome, autism, attention deficit-hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder, and schizophrenia.[8]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165995 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057914 – 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. ^ Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P (Sep 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.
  6. ^ Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E, Furneaux HM (Jun 1993). "Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen". Ann Neurol. 33 (1): 113–20. doi:10.1002/ana.410330126. PMID 8494331. S2CID 24241609.
  7. ^ "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit".
  8. ^ Cross-Disorder Group of the Psychiatric Genomics Consortium (2013). "Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis". The Lancet. 381 (9875): 1371–9. doi:10.1016/S0140-6736(12)62129-1. PMC 3714010. PMID 23453885.

Further reading

  • Williams ME, Feldman DH, McCue AF, et al. (1992). "Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype". Neuron. 8 (1): 71–84. doi:10.1016/0896-6273(92)90109-Q. PMID 1309651. S2CID 39341712.
  • Brust PF, Simerson S, McCue AF, et al. (1994). "Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly". Neuropharmacology. 32 (11): 1089–102. doi:10.1016/0028-3908(93)90004-M. PMID 8107964. S2CID 33257989.
  • Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
  • 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.
  • Robertson HM, Zumpano KL (1998). "Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome". Gene. 205 (1–2): 203–17. doi:10.1016/S0378-1119(97)00472-1. PMID 9461395.
  • Allen TJ, Mikala G (1998). "Effects of temperature on human L-type cardiac Ca2+ channels expressed in Xenopus oocytes". Pflügers Arch. 436 (2): 238–47. doi:10.1007/s004240050628. PMID 9594024. S2CID 7075998.
  • 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.
  • Brice NL, Dolphin AC (1999). "Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line". J. Physiol. 515 (3): 685–94. doi:10.1111/j.1469-7793.1999.685ab.x. PMC 2269176. PMID 10066897.
  • Gerhardstein BL, Puri TS, Chien AJ, Hosey MM (1999). "Identification of the sites phosphorylated by cyclic AMP-dependent protein kinase on the beta 2 subunit of L-type voltage-dependent calcium channels". Biochemistry. 38 (32): 10361–70. doi:10.1021/bi990896o. PMID 10441130.
  • Lie AA, Blümcke I, Volsen SG, et al. (1999). "Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy". Neuroscience. 93 (2): 449–56. doi:10.1016/S0306-4522(99)00162-1. PMID 10465427. S2CID 12890647.
  • Bünemann M, Gerhardstein BL, Gao T, Hosey MM (1999). "Functional regulation of L-type calcium channels via protein kinase A-mediated phosphorylation of the beta(2) subunit". J. Biol. Chem. 274 (48): 33851–4. doi:10.1074/jbc.274.48.33851. PMID 10567342.
  • Yamaguchi H, Okuda M, Mikala G, et al. (2000). "Cloning of the beta(2a) subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha(2)/delta and beta(2a) on the membrane expression of the alpha(1C) subunit". Biochem. Biophys. Res. Commun. 267 (1): 156–63. doi:10.1006/bbrc.1999.1926. PMID 10623591.
  • Colecraft HM, Alseikhan B, Takahashi SX, et al. (2002). "Novel functional properties of Ca2+ channel β subunits revealed by their expression in adult rat heart cells". J. Physiol. 541 (Pt 2): 435–52. doi:10.1113/jphysiol.2002.018515. PMC 2290333. PMID 12042350.
  • Takahashi SX, Mittman S, Colecraft HM (2004). "Distinctive Modulatory Effects of Five Human Auxiliary β2 Subunit Splice Variants on L-Type Calcium Channel Gating". Biophys. J. 84 (5): 3007–21. doi:10.1016/S0006-3495(03)70027-7. PMC 1302863. PMID 12719232.
  • 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. doi:10.1073/pnas.2437756100. PMC 283615. PMID 14623965.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Foell JD, Balijepalli RC, Delisle BP, et al. (2004). "Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization". Physiol. Genomics. 17 (2): 183–200. doi:10.1152/physiolgenomics.00207.2003. PMID 14762176. S2CID 38889757.
  • Harry JB, Kobrinsky E, Abernethy DR, Soldatov NM (2004). "New short splice variants of the human cardiac Cavbeta2 subunit: redefining the major functional motifs implemented in modulation of the Cav1.2 channel". J. Biol. Chem. 279 (45): 46367–72. doi:10.1074/jbc.M409523200. PMID 15339916.

External links

  • GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
  • CACNB2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  • Human CACNB2 genome location and CACNB2 gene details page in the UCSC Genome Browser.
  • v
  • t
  • e
  • 1t0h: Crystal structure of the Rattus norvegicus voltage gated calcium channel beta subunit isoform 2a
    1t0h: Crystal structure of the Rattus norvegicus voltage gated calcium channel beta subunit isoform 2a
  • 1t0j: Crystal structure of a complex between voltage-gated calcium channel beta2a subunit and a peptide of the alpha1c subunit
    1t0j: Crystal structure of a complex between voltage-gated calcium channel beta2a subunit and a peptide of the alpha1c subunit
  • 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


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