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)
End	18,543,557 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	14,992,719 bp
RNA expression pattern
	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
	; ;
	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
	783
	12296
	ENSG00000165995
	ENSMUSG00000057914
	Q08289
	Q8CC27
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
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
	Wikidata
View/Edit Human	View/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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165995 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000057914 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit".
^ "Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis". The Lancet. 381 (9875): 1371–9. 2013. doi:10.1016/S0140-6736(12)62129-1. PMC 3714010. PMID 23453885.

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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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.
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165995 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9254841-5] 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.

[pmid8494331-6] 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.

[entrez-7] "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit".

[8] "Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis". The Lancet. 381 (9875): 1371–9. 2013. doi:10.1016/S0140-6736(12)62129-1. PMC 3714010. PMID 23453885.

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[2]

[3]

[4]

[5]

[6]

[7]

[8]

CACNB2

Clinical significance

See also

References

Further reading

External links