Biology:CACNB2
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.[1][2][3]
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.[4]
See also
- Voltage-dependent calcium channel
References
- ↑ "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. Sep 1997. doi:10.1007/PL00008704. PMID 9254841.
- ↑ "Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen". Ann Neurol 33 (1): 113–20. Jun 1993. doi:10.1002/ana.410330126. PMID 8494331.
- ↑ "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=783.
- ↑ 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. 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.
- 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.
- 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.
- "Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome". Gene 205 (1–2): 203–17. 1998. doi:10.1016/S0378-1119(97)00472-1. PMID 9461395.
- "Effects of temperature on human L-type cardiac Ca2+ channels expressed in Xenopus oocytes". Pflügers Arch. 436 (2): 238–47. 1998. doi:10.1007/s004240050628. PMID 9594024.
- 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.
- "Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line". J. Physiol. 515 (3): 685–94. 1999. doi:10.1111/j.1469-7793.1999.685ab.x. PMID 10066897.
- "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. 1999. 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.
- "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. 1999. 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. PMID 12042350.
- "Distinctive Modulatory Effects of Five Human Auxiliary β2 Subunit Splice Variants on L-Type Calcium Channel Gating". Biophys. J. 84 (5): 3007–21. 2004. doi:10.1016/S0006-3495(03)70027-7. PMID 12719232.
- "Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases". Proc. Natl. Acad. Sci. U.S.A. 100 (24): 14469–74. 2004. doi:10.1073/pnas.2437756100. 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.
- "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. 2004. doi:10.1074/jbc.M409523200. PMID 15339916.
External links
- GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
- CACNB2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Human CACNB2 genome location and CACNB2 gene details page in the UCSC Genome Browser.
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