CACNB2

CACNB2
Identifikatori
Aliasi	CACNB2
Vanjski ID-jevi	OMIM: 600003 MGI: 894644 HomoloGene: 75191 GeneCards: CACNB2
Lokacija gena (čovjek)
Hrom.	Hromosom 10 (čovjek)
Kraj	18,543,557 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	14,992,719 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• calcium channel activity; • voltage-gated ion channel activity; • high voltage-gated calcium channel activity; • GO:0001948, GO:0016582 vezivanje za proteine; • 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;
Ćelijska komponenta	• L-type voltage-gated calcium channel complex; • membrana; • ćelijska membrana; • integral component of plasma membrane; • Sarkolema; • Naponom kontrolirani kalcijev kanal; • photoreceptor ribbon synapse; • presynapse;
Biološki proces	• 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; • Vid; • 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;
	Izvori:Amigo / QuickGO
Ortolozi
	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
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Podjedinica beta-2 naponski-ovisnog L-tipa kalcijskog kanala jest protein koji je kod ljudi kodiran genom CACNB2 sa hromosoma 10.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 660 aminokiselina, a molekulska težina 73.581 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MVQRDMSKSP	PTAAAAVAQE	IQMELLENVA	PAGALGAAAQ	SYGKGARRKN
RFKGSDGSTS	SDTTSNSFVR	QGSADSYTSR	PSDSDVSLEE	DREAVRREAE
RQAQAQLEKA	KTKPVAFAVR	TNVSYSAAHE	DDVPVPGMAI	SFEAKDFLHV
KEKFNNDWWI	GRLVKEGCEI	GFIPSPVKLE	NMRLQHEQRA	KQGKFYSSKS
GGNSSSSLGD	IVPSSRKSTP	PSSAIDIDAT	GLDAEENDIP	ANHRSPKPSA
NSVTSPHSKE	KRMPFFKKTE	HTPPYDVVPS	MRPVVLVGPS	LKGYEVTDMM
QKALFDFLKH	RFEGRISITR	VTADISLAKR	SVLNNPSKHA	IIERSNTRSS
LAEVQSEIER	IFELARTLQL	VVLDADTINH	PAQLSKTSLA	PIIVYVKISS
PKVLQRLIKS	RGKSQAKHLN	VQMVAADKLA	QCPPELFDVI	LDENQLEDAC
EHLADYLEAY	WKATHPPSSS	LPNPLLSRTL	ATSSLPLSPT	LASNSQGSQG
DQRTDRSAPI	RSASQAEEEP	SVEPVKKSQH	RSSSSAPHHN	HRSGTSRGLS
RQETFDSETQ	ESRDSAYVEP	KEDYSHDHVD	HYASHRDHNH	RDETHGSSDH
RHRESRHRSR	DVDREQDHNE	CNKQRSRHKS	KDRYCEKDGE	VISKKRNEAG
EWNRDVYIRQ

Klinički značaj

Mutacija gena CACNB2 povezana je sa Brugadainovim sindromom, autizmom, poremećajem pažnje i hiperaktivnosti (ADHD), bipolarnim poremećajem, veliki mdepresivnim poremećajem i shizofrenijom.^[8]

Također pogledajte

Naponski-ovisni kalcijski kanal

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165995 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000057914 - Ensembl, maj 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. S2CID 5689556.
^ 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.
^ ^a ^b "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit".
^ 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.

Dopunska literatura

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.

Vanjski linkovi

GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
CACNB2 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
Lokacija ljudskog genoma CACNB2 i stranica sa detaljima o genu CACNB2 u UCSC Genome Browseru.

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

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000057914 - Ensembl, maj 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. S2CID 5689556.

[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. S2CID 24241609.

[entrez-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.

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