CACNB2

CACNB2
Identifiers
Aliases	CACNB2 , CACNLB2, CAVB2, MYSB, calcium voltage-gated channel auxiliary subunit beta 2, CAB2
External IDs	OMIM: 600003; MGI: 894644; HomoloGene: 75191; GeneCards: CACNB2; OMA:CACNB2 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10p12.33-p12.31 Start 18,140,424 bp [1] End 18,543,557 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 A2|2 10.7 cM Start 14,607,899 bp [2] End 14,992,719 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa buccal mucosa cell frontal pole myocardium of left ventricle middle temporal gyrus Brodmann area 46 Brodmann area 10 orbitofrontal cortex cardiac muscle tissue of right atrium right ventricle Top expressed in neural layer of retina medial dorsal nucleus lumbar subsegment of spinal cord medial geniculate nucleus dentate gyrus of hippocampal formation granule cell inner nuclear layer lateral geniculate nucleus superior frontal gyrus myocardium of ventricle cardiac muscles 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 Species Human Mouse 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 Mb Chr 2: 14.61 – 14.99 Mb PubMed search [3] [4]
Wikidata
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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

• Voltage-dependent calcium channel

References

1. GRCh38: Ensembl release 89: ENSG00000165995 – Ensembl, May 2017
2. 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 .