Property Summary

NCBI Gene PubMed Count 45
PubMed Score 79.27
PubTator Score 194.78

Knowledge Summary

Patent (10,397)

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytoma -2.600 1.1e-29
ependymoma -2.900 6.1e-17
oligodendroglioma -2.600 1.2e-22
glioblastoma -3.100 6.9e-08
medulloblastoma -2.900 2.0e-06
atypical teratoid / rhabdoid tumor -3.100 5.2e-06
medulloblastoma, large-cell -2.900 9.3e-05
lung cancer 1.200 4.0e-03
adult high grade glioma -2.900 1.3e-06
pilocytic astrocytoma -2.800 5.0e-10
lung adenocarcinoma 1.400 2.2e-06
Pick disease -1.300 4.9e-02

Gene RIF (23)

PMID Text
25741585 Data suggest that, in vascular smooth muscle cells, increase in cytosolic endothelin-1 (EDN1) induces sustained increase in nuclear Ca2+ via stimulation of R-type calcium channel (CACNA1E) present at the nuclear membrane.
23940630 CACNA1E gene single nucleotide polymorphisms may be involved in fentanyl sensitivity.
22846999 quartet of leucine residues in the guanylate kinase domain of CaVbeta determines the plasma membrane density of the CaV2.3 channel.
22633975 The C-terminus of human Ca(v)2.3 voltage-gated calcium channel interacts with alternatively spliced calmodulin-2 expressed in two human cell lines
22427875 CACNA1E variants affect beta cell function in patients with newly diagnosed type 2 diabetes.
22178872 the II-III loop of the Ca(v)2.3 calcium channel binds APLP1 and that this binding promotes internalization of the channel
21691059 Ca(v)2.3 Ca2+ channel interacts with the G1-subunit of V-ATPase.
21482359 Lack of high-voltage activated Cav2.3 channels results in a marked decrease in the sensitivity of transgenic animals to gamma-butyrolactone-induced absence epilepsy.
20424473 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20026913 Swapping the I-II intracellular linker between L-type CaV1.2 and R-type CaV2.3 high-voltage gated calcium channels exchanges activation attributes.
18676988 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18037383 These findings strongly suggest that both H179 and H183 in the IS3-IS4 loop are essential structural determinants required for nickel sensitive inhibition of the Cav2.3.
17934712 Genetic variation in the CACNA1E gene contributes to an increased risk of the development of type 2 diabetes by reducing insulin secretion.
17934712 Observational study of gene-disease association. (HuGE Navigator)
17727731 Observational study of gene-disease association. (HuGE Navigator)
17720895 Observational study of gene-disease association. (HuGE Navigator)
17720895 A functional variant in CACNA1E contributes to type 2 diabetes susceptibility in Pima indians by affecting insulin action.
17660294 analysis of a three-dimensional homology model of Ca(V)2.3 based upon Kv1.2 where hydrophobic residues at positions facing Val(1720) in IS6, IIS6, and IIIS6 play a critical role in stabilizing the closed state in Ca(V)2.3
17189400 Amplification and overexpression of CACNA1E correlates with relapse in favorable histology Wilms' tumors.
17050807 Neurokinin 1 receptorsmodulate CaV2.3 using three different signaling mechanisms: a fast inhibition mediated by Gbeta gamma, a slow inhibition mediated by Galpha(q/11), and a slow stimulation mediated by protein kinases C.
16855219 Full-length RGS3, RGS3T, and the core domain of RGS3 were equally effective in antagonizing inhibition of Ca(V)2.3 through M(2)R.
15845089 Review discusses the roles of Cav2.3-containing E-type Ca2+ channels which exhibit several subunit-specific features, trigger exocytosis and are also involved in long-term potentiation.

AA Sequence

MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQNCFTVNRSLF      1 - 70
IFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAG     71 - 140
IKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIV    141 - 210
LKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECK    211 - 280
DWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVL    281 - 350
SGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRT    351 - 420
EAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYWIVLSLVALNT    421 - 490
ACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIF    491 - 560
RPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFN    561 - 630
FNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLA    631 - 700
IAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERR    701 - 770
RRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGL    771 - 840
ALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFED    841 - 910
RARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQD    911 - 980
LRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSE    981 - 1050
PDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEK   1051 - 1120
RETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFD   1121 - 1190
YVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVL   1191 - 1260
RVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECI   1261 - 1330
GNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMS   1331 - 1400
IFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYR   1401 - 1470
VWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRD   1471 - 1540
TWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYV   1541 - 1610
CLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEP   1611 - 1680
DTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAE   1681 - 1750
YDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIK   1751 - 1820
IAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQL   1821 - 1890
EEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQF   1891 - 1960
QERQSLEPEVSELKSVQPSNHGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSN   1961 - 2030
SSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRC   2031 - 2100
NSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLL   2101 - 2170
SYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQHASPQRYISEPYLALHEDSH   2171 - 2240
ASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEED   2241 - 2310
DKC                                                                      2311 - 2313
//

Text Mined References (47)

PMID Year Title
25741585 2015 Nuclear membrane R-type calcium channels mediate cytosolic ET-1-induced increase of nuclear calcium in human vascular smooth muscle cells.
23940630 2013 Association between genetic polymorphisms in Ca(v)2.3 (R-type) Ca2+ channels and fentanyl sensitivity in patients undergoing painful cosmetic surgery.
23870195 2013 Genetics of coronary artery calcification among African Americans, a meta-analysis.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
22846999 2012 A quartet of leucine residues in the guanylate kinase domain of CaV? determines the plasma membrane density of the CaV2.3 channel.
22633975 2012 The C-terminus of human Ca(v)2.3 voltage-gated calcium channel interacts with alternatively spliced calmodulin-2 expressed in two human cell lines.
22427875 2012 CACNA1E variants affect beta cell function in patients with newly diagnosed type 2 diabetes. the Verona newly diagnosed type 2 diabetes study (VNDS) 3.
22178872 2011 APLP1 and Rab5A interact with the II-III loop of the voltage-gated Ca-channel Ca(v)2.3 and modulate its internalization differently.
21691059 2011 Ca(v)2.3 Ca2+ channel interacts with the G1-subunit of V-ATPase.
21482359 2011 Cav2.3 channels are critical for oscillatory burst discharges in the reticular thalamus and absence epilepsy.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20026913 Swapping the I-II intracellular linker between L-type CaV1.2 and R-type CaV2.3 high-voltage gated calcium channels exchanges activation attributes.
18676988 2008 A high-density association screen of 155 ion transport genes for involvement with common migraine.
18400181 2008 Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+.
18037383 2007 Histidine residues in the IS3-IS4 loop are critical for nickel-sensitive inhibition of the Cav2.3 calcium channel.
17934712 2007 Polymorphisms in the gene encoding the voltage-dependent Ca(2+) channel Ca (V)2.3 (CACNA1E) are associated with type 2 diabetes and impaired insulin secretion.
17727731 2007 Association analysis of chromosome 1 migraine candidate genes.
17720895 2007 Variants in the Ca V 2.3 (alpha 1E) subunit of voltage-activated Ca2+ channels are associated with insulin resistance and type 2 diabetes in Pima Indians.
17660294 2007 The role of distal S6 hydrophobic residues in the voltage-dependent gating of CaV2.3 channels.
17189400 2006 Amplification and overexpression of CACNA1E correlates with relapse in favorable histology Wilms' tumors.
17050807 2007 Neurokinin 1 receptors trigger overlapping stimulation and inhibition of CaV2.3 (R-type) calcium channels.
16855219 2007 Muscarinic modulation of Cav2.3 (R-type) calcium channels is antagonized by RGS3 and RGS3T.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16382099 2005 International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels.
15845089 2005 Presynaptic 'Ca2.3-containing' E-type Ca channels share dual roles during neurotransmitter release.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15258581 2004 Mutations in EFHC1 cause juvenile myoclonic epilepsy.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12706458 2003 Actions of sipatrigine, 202W92 and lamotrigine on R-type and T-type Ca2+ channel currents.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12401453 2002 Alternate splicing in the cytosolic II-III loop and the carboxy terminus of human E-type voltage-gated Ca(2+) channels: electrophysiological characterization of isoforms.
12202369 2002 A specific tryptophan in the I-II linker is a key determinant of beta-subunit binding and modulation in Ca(V)2.3 calcium channels.
11903132 2001 Inhibition of human alpha1E subunit-mediated ca2+ channels by the antipsychotic agent chlorpromazine.
11891061 2002 Identification of six novel genes by experimental validation of GeneMachine predicted genes.
11719851 2001 State-dependent inhibition of inactivation-deficient Ca(V)1.2 and Ca(V)2.3 channels by mibefradil.
11179973 2001 Functional coupling between 'R-type' Ca2+ channels and insulin secretion in the insulinoma cell line INS-1.
11159396 2001 Molecular determinants of inactivation within the I-II linker of alpha1E (CaV2.3) calcium channels.
9799129 1998 New isoform of the neuronal Ca2+ channel alpha1E subunit in islets of Langerhans and kidney--distribution of voltage-gated Ca2+ channel alpha1 subunits in cell lines and tissues.
9776767 1998 A method for global protein expression and antibody screening on high-density filters of an arrayed cDNA library.
9753159 1998 Structural diversity of the voltage-dependent Ca2+ channel alpha1E-subunit.
9656471 Locations of human genes for alpha 1A, alpha 1B, and alpha 1E calcium channels determined by radiation hybrid mapping.
8825650 1995 Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits.
8388125 1993 Structure and functional expression of a member of the low voltage-activated calcium channel family.
8358434 1993 3,400 new expressed sequence tags identify diversity of transcripts in human brain.
8071363 1994 Structure and functional characterization of neuronal alpha 1E calcium channel subtypes.
7536609 1994 Molecular analysis and functional expression of the human type E neuronal Ca2+ channel alpha 1 subunit.