Property Summary

NCBI Gene PubMed Count 44
PubMed Score 162.94
PubTator Score 224.91

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytic glioma -2.400 2.0e-03
posterior fossa group A ependymoma -4.000 5.6e-21
oligodendroglioma -2.500 2.3e-20
glioblastoma -4.000 7.0e-07
atypical teratoid / rhabdoid tumor -3.700 4.9e-11
group 4 medulloblastoma -1.500 1.8e-04
primitive neuroectodermal tumor -2.100 1.8e-03
pediatric high grade glioma -3.800 8.5e-10
pilocytic astrocytoma -4.500 5.7e-17
subependymal giant cell astrocytoma -2.872 2.5e-02
lung carcinoma 1.400 4.0e-33
pituitary cancer -2.600 1.8e-06
psoriasis -1.300 1.5e-12

 OMIM Phenotype (1)

Gene RIF (23)

PMID Text
26511252 AP-1 binding motifs, present only in exon 37a, enhance intracellular trafficking of exon 37a-containing Ca(V)2.2 to the axons and plasma membrane of rat dorsal root ganglia neurons
26507659 the consensus motifs of S-nitrosylation were much more abundant in Cav2.2 than in Cav1.2 and Cav2.1.
26218636 The first disease connection for Cav2.2 channels [review]
26157024 These results do not support a causal association between the CACNA1B c.4166G>A; (p.R1389H) variant and M-D.
25296916 CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
25225550 with membrane-localized CaV beta subunits, CaV2.2 channels are subject to Gbetagamma-mediated voltage-dependent inhibition, whereas cytosol-localized beta subunits confer more effective PIP2-mediated voltage-independent regulation
24566975 The interaction between LC1 and the N-type channel (CaV2.2 channel) was demonstrated.
22613715 Results show that GABA(B) receptors R1 and R2 must be activated for the modulation of N-type (Ca(v)2.2) calcium channels by analgesic alpha-conotoxins Vc1.1 and RgIA.
22590648 new mechanistic perspectives, and reveal unexpected variations in determinants, underlying inhibition of Ca(V)1.2/Ca(V)2.2 channels by distinct RGK GTPases.
22491326 Ca(2+) exits the channel through the Cav2.2.
21166801 polymorphisms and haplotypes in the human CACNA1B gene show significant differences between cerebral infarction and control patients
21057379 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20489179 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19065143 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18958281 The orientation of the Ca(v)beta subunit relative to the alpha(1)2.2 subunit is critical, and suggests additional points of contact between these subunits are required for Ca(v)beta to regulate channel activity.
16857708 Our studies of the e37a/e37b splice site reveal a multifunctional domain in the C-terminus of Ca(V)2.2 that regulates the overall activity of N-type calcium channels in nociceptors.
16627564 The Y388S mutation had no effect on current density and cell surface expression of Ca(V)2.2/alpha2delta-2/beta1b channels expressed in human embryonic kidney tsA-201 cells, when equivalent proportions of cDNA were used.
15607937 Activation of PKC resulted in its recruitment to and phosphorylation of Ca(V)2.2 channels, but PKC phosphorylation did not dissociate Ca(V)2.2 channel/syntaxin 1A complexes.
15166237 Cav2.2 alpha2delta auxiliary subunit binds to omega-conotoxins
14602720 the C-terminal region of Ca(v)2.2 does not have a critical role in regulation of the calcium channel
12414690 molecular dissection of calcium current mechanosensitivity- electrophysiology of N-type calcium channels
12018859 Results suggest that a 39 bp DNA element in the N-type voltage-gated calcium channel alpha1B gene might act as repressor in non-neuronal cells through specific interactions with DNA.

AA Sequence

MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYNPIPVKQNCFT      1 - 70
VNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPDGDKTPMSERLDDTEPYFIGI     71 - 140
FCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILATAGTDFDLRTLRAVRVLRPLKLVSGIPSLQ    141 - 210
VVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGD    211 - 280
TECREYWPGPNFGITNFDNILFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNL    281 - 350
VLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAA    351 - 420
TKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVKAQSFYWVVLC    421 - 490
VVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRSYFRSSFNCFDFGVIVGSVFE    491 - 560
VVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQL    561 - 630
FGGQFNFQDETPTTNFDTFPAAILTVFQILTGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTL    631 - 700
LNVFLAIAVDNLANAQELTKDEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQ    701 - 770
RASQLRLQNLRASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAE    771 - 840
APEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPPEARSERGRGP    841 - 910
GPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRGGPRAGPREAESGEEPARRHR    911 - 980
ARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNHQPREPHCDLETSGTVTVGPMHTLPSTCLQK    981 - 1050
VEEQPEDADNQRNVTRMGSQPPDPNTIVHIPVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSG   1051 - 1120
PRPIVPYSSMFCLSPTNLLRRFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIF   1121 - 1190
TGVFTFEMVIKMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLK   1191 - 1260
TIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELERDCRGQYLDYE   1261 - 1330
KEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYEEQGPSPGYRMELSIFYVVYF   1331 - 1400
VVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACIDFAISAKPLTRYMPQNRQSFQYKTWTFVVS   1401 - 1470
PPFEYFIMAMIALNTVVLMMKFYDAPYEYELMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDF   1471 - 1540
VTVLGSITDILVTEIAETNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLF   1541 - 1610
FIYAIIGMQVFGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECG   1611 - 1680
SDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAACGRISYNDMF   1681 - 1750
EMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIRTALEIKLAPAGTKQHQCDAE   1751 - 1820
LRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMIFDFYKQNKTTRDQMQQAPGGLSQMGPVSLF   1821 - 1890
HPLKATLEQTQPAVLRGARVFLRQKSSTSLSNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHS   1891 - 1960
TEIPVGRSGALAVDVQMQSITRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPR   1961 - 2030
GTHLCSTTPDRPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRR   2031 - 2100
ERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGPHPQGSGSVNG   2101 - 2170
SPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSLPAFSPGRLSRGLSEHNALLQ   2171 - 2240
RDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTFEEAVATNSGRSSRTSYVSSLTSQSHPLRRV   2241 - 2310
PNGYHCTLGLSSGGRARHSYHHPDQDHWC                                            2311 - 2339
//

Text Mined References (45)

PMID Year Title
26511252 2015 Alternative Splicing in Ca(V)2.2 Regulates Neuronal Trafficking via Adaptor Protein Complex-1 Adaptor Protein Motifs.
26507659 2015 Molecular Basis of Regulating High Voltage-Activated Calcium Channels by S-Nitrosylation.
26218636 2015 The first disease connection for Cav2.2 channels.
26157024 2015 The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
25296916 2015 CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
25225550 2014 Voltage-dependent regulation of CaV2.2 channels by Gq-coupled receptor is facilitated by membrane-localized ? subunit.
24566975 2014 CaV2.2 channel cell surface expression is regulated by the light chain 1 (LC1) of the microtubule-associated protein B (MAP1B) via UBE2L3-mediated ubiquitination and degradation.
22613715 2012 ?-Aminobutyric acid type B (GABAB) receptor expression is needed for inhibition of N-type (Cav2.2) calcium channels by analgesic ?-conotoxins.
22590648 2012 Distinct RGK GTPases differentially use ?1- and auxiliary ?-binding-dependent mechanisms to inhibit CaV1.2/CaV2.2 channels.
22491326 2012 Nanodomain Ca²? of Ca²? channels detected by a tethered genetically encoded Ca²? sensor.
21166801 2010 The haplotype of the CACNA1B gene associated with cerebral infarction in a Japanese population.
21057379 2011 Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.
20489179 2010 Strong synaptic transmission impact by copy number variations in schizophrenia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20195357 2010 A comprehensive resource of interacting protein regions for refining human transcription factor networks.
19065143 2009 Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk.
18958281 2008 Orientation of the calcium channel beta relative to the alpha(1)2.2 subunit is critical for its regulation of channel activity.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16857708 2006 Alternative splicing in the C-terminus of CaV2.2 controls expression and gating of N-type calcium channels.
16627564 2006 The importance of occupancy rather than affinity of CaV(beta) subunits for the calcium channel I-II linker in relation to calcium channel function.
16382099 2005 International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels.
15953418 2005 G protein-gated inhibitory module of N-type (ca(v)2.2) ca2+ channels.
15728831 2005 A protein phosphatase 2calpha-Ca2+ channel complex for dephosphorylation of neuronal Ca2+ channels phosphorylated by protein kinase C.
15607937 2005 Mechanism of SNARE protein binding and regulation of Cav2 channels by phosphorylation of the synaptic protein interaction site.
15166237 2004 The alpha2delta auxiliary subunit reduces affinity of omega-conotoxins for recombinant N-type (Cav2.2) calcium channels.
15164053 2004 DNA sequence and analysis of human chromosome 9.
14684825 2003 Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays.
14602720 2004 Several structural domains contribute to the regulation of N-type calcium channel inactivation by the beta 3 subunit.
12665800 2003 A PKC epsilon-ENH-channel complex specifically modulates N-type Ca2+ channels.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12435810 2002 Characteristics of block by Pb2+ of function of human neuronal L-, N-, and R-type Ca2+ channels transiently expressed in human embryonic kidney 293 cells.
12414690 2002 Mechanosensitivity of N-type calcium channel currents.
12177192 2002 Synaptic targeting of N-type calcium channels in hippocampal neurons.
12161429 2002 Pain perception in mice lacking the beta3 subunit of voltage-activated calcium channels.
12018859 2002 A direct repeat of N-type Ca2+ channel alpha1B gene functions as a negative regulatory element in HeLa cells.
11438518 2001 Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP-25, and synaptotagmin.
11395521 2001 Binding of G alpha(o) N terminus is responsible for the voltage-resistant inhibition of alpha(1A) (P/Q-type, Ca(v)2.1) Ca(2+) channels.
11353727 2001 Distribution of a calcium channel subunit in dystrophic axons in multiple sclerosis and experimental autoimmune encephalomyelitis.
11130074 2000 Tyrosine-kinase-dependent recruitment of RGS12 to the N-type calcium channel.
10455105 1999 Association of neuronal calcium channels with modular adaptor proteins.
9030575 1997 Isolation and characterization of the 5'-upstream region of the human N-type calcium channel alpha1B subunit gene. Chromosomal localization and promoter analysis.
8825650 1995 Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits.
8750830 1995 The expression of neuronal voltage-dependent calcium channels in human cerebellum.
8684604 1996 Distribution of alpha 1A, alpha 1B and alpha 1E voltage-dependent calcium channel subunits in the human hippocampus and parahippocampal gyrus.
1321501 1992 Structure and functional expression of an omega-conotoxin-sensitive human N-type calcium channel.