Property Summary

NCBI Gene PubMed Count 44
Grant Count 92
R01 Count 54
Funding $10,036,838.66
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 0.002
posterior fossa group A ependymoma -4.000 0.000
oligodendroglioma -2.500 0.000
glioblastoma -4.000 0.000
atypical teratoid / rhabdoid tumor -3.700 0.000
group 4 medulloblastoma -1.500 0.000
primitive neuroectodermal tumor -2.100 0.002
pediatric high grade glioma -3.800 0.000
pilocytic astrocytoma -4.500 0.000
subependymal giant cell astrocytoma -2.872 0.025
lung carcinoma 1.400 0.000
pituitary cancer -2.600 0.000
psoriasis -1.300 0.000

Synonym

Accession Q00975 B1AQK5
Symbols BIII
CACNN
DYT23
Cav2.2
CACNL1A5

Gene

PDB

2LCM  

 OMIM Term (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.
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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.
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