Property Summary

NCBI Gene PubMed Count 42
PubMed Score 130.38
PubTator Score 142.55

Knowledge Summary

Patent (6,621)

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma -1.500 4.1e-06
posterior fossa group B ependymoma -2.900 1.4e-10
psoriasis 1.300 2.8e-03
astrocytoma -1.200 3.8e-17
glioblastoma -2.500 4.5e-09
oligodendroglioma -1.100 2.5e-11
osteosarcoma 2.194 3.3e-07
sonic hedgehog group medulloblastoma -2.400 2.3e-03
atypical teratoid/rhabdoid tumor -3.100 2.0e-09
primitive neuroectodermal tumor -1.100 3.2e-02
adult high grade glioma -2.600 2.3e-04
subependymal giant cell astrocytoma -2.166 6.6e-03
invasive ductal carcinoma -1.239 4.9e-03
inflammatory breast cancer -1.200 9.8e-08

Protein-protein Interaction (1)

Gene RIF (30)

PMID Text
26715324 In 2 families with autosomal dominant SCA, a CACNA1G mutation p.Arg1715His was found at S4 of repeat IV, the voltage sensor of the CaV3.1 which shifted it toward a positive potential.
26456284 A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
26056284 CaV3.1 channel is required for the generation of a given set of thalamocortical rhythms during unconsciousness. Further, that thalamocortical resonant neuronal activity supported by this channel is important for the control of vigilance states
24268883 CaV3.1 downregulation is a major initiating factor for the increased production of the toxic Ab peptide, then the CaV3.1 T-type calcium channel represents a novel target for preventative therapeutics in Alzheimer's disease.
23488970 Ethanol affects CaV3.2 but not CaV3.1 nor CaV3.3 channel isoforms.
22973060 Ca(V)3.1 channels represent a likely pathway for Fe(2) entry into cells.
22973059 Cd(2) carried sizable inward currents through Ca(v)3.1 channels (210 +/- 20 pA at -60 mV with 2 mM Cd(2)).
22574369 The abnormal mRNA expressions of T-type channel alpha1H and alpha1G may be one of the causes of declined semen quality and infertility in varicocele patients.
22572848 Augmentation of CaV3.1 currents by Ras-ERK activation is associated with enhanced trafficking of channels to the plasma membrane.
22469755 Cav3.1 channels may contribute to the repression of tumor proliferation and the promotion of apoptosis mediated via Cav3.1-specific calcium signals
21788606 Data showed expression of L-type (Ca(v) 1.2), P/Q-type (Ca(v) 2.1), and T-type subtype (Ca(v) 3.1 and Ca(v) 3.2) voltage-gated calcium channels (Ca(v)s) in renal artery and dissected intrarenal blood vessels from nephrectomies.
21438841 The function of T-type Ca(2+) channels is important for the proliferation of human ovarian cancer cells.
20435690 Results reveal an intracellular WPb-independent P-selectin pool in pulmonary capillary endothelium, where the regulated P-selectin surface expression is triggered by Ca(2+) transients evoked through activation of the alpha(1G) T-type channel.
20416077 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19455149 establishing CACNA1G as a novel candidate gene for autism, these alleles do not contribute a sufficient genetic effect to explain the observed linkage, indicating that there is substantial genetic heterogeneity despite the clear linkage signal
19211869 Elevated brain levels of Cacna1g channel identify a key causal component of pure absence epilepsy and a major genetic component of the epileptogenic pathway.
18801335 These results suggest that RanBPM could be a key regulator of Ca(v)3.1 channel-mediated signaling pathways.
18663132 A study evaluating whether the effect of Ni(2+) on Ca(V)3.1 is affected by permeant ions is reported.
18663131 This study reports the concentration dependence of currents through Ca(V)3.1 T-type calcium channels stably expressed in HEK 293 cells.
18591418 The sodium channel toxins tetrodotoxin and saxitoxin interact with the alpha-subunit of T-type Ca 2+ channels.
17591929 A panel of markers including at least RUNX3, CACNA1G, IGF2, and MLH1 can serve as a sensitive and specific marker panel for CIMP(Cpg island methylator phenotype)-high.
17446221 Primary T-type subunit expressed in some myometrial smooth muscle cells is Cav3.1.
17397049 Observational study of gene-disease association. (HuGE Navigator)
17397049 collective findings flag CACNA1G as a potential susceptibility locus for idiopathic generalized epilepsy subsyndromes
16671074 CACNA1G is a human gene for T-type Ca(v)3.1 calcium channels that is subject to extensive alternative RNA splicing
15774856 T-type voltage-operated Ca2+ channels are required for cell cycle progression and proliferation of human pulmonary artery smooth muscle cell.
15465033 Data describe the construction of a new cell line stably expressing alpha(1G) and Kir2.1 subunits in HEK293 cells.
12752779 The down-regulation of alpha 1G T-type calcium channel mRNA in differentiated Y79 cells is mediated primarily by decreased activity of promoter A, which could occur in conjunction with repression of the activity of promoter B.
12676336 Since allele and genotype distributions of CACNA1G polymorphisms in cases studied are not remarkably different from control groups, CACNA1G is not an important susceptibility gene for childhood absence epilepsy in the Han Chinese population.
11927664 Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability.

AA Sequence

MDEEEDGAGAEESGQPRSFMRLNDLSGAGGRPGPGSAEKDPGSADSEAEGLPYPALAPVVFFYLSQDSRP      1 - 70
RSWCLRTVCNPWFERISMLVILLNCVTLGMFRPCEDIACDSQRCRILQAFDDFIFAFFAVEMVVKMVALG     71 - 140
IFGKKCYLGDTWNRLDFFIVIAGMLEYSLDLQNVSFSAVRTVRVLRPLRAINRVPSMRILVTLLLDTLPM    141 - 210
LGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLPENFSLPLSVDLERYYQTENEDESPFICSQPRENGMR    211 - 280
SCRSVPTLRGDGGGGPPCGLDYEAYNSSSNTTCVNWNQYYTNCSAGEHNPFKGAINFDNIGYAWIAIFQV    281 - 350
ITLEGWVDIMYFVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRVRFLSNA    351 - 420
STLASFSEPGSCYEELLKYLVYILRKAARRLAQVSRAAGVRVGLLSSPAPLGGQETQPSSSCSRSHRRLS    421 - 490
VHHLVHHHHHHHHHYHLGNGTLRAPRASPEIQDRDANGSRRLMLPPPSTPALSGAPPGGAESVHSFYHAD    491 - 560
CHLEPVRCQAPPPRSPSEASGRTVGSGKVYPTVHTSPPPETLKEKALVEVAASSGPPTLTSLNIPPGPYS    561 - 630
SMHKLLETQSTGACQSSCKISSPCLKADSGACGPDSCPYCARAGAGEVELADREMPDSDSEAVYEFTQDA    631 - 700
QHSDLRDPHSRRQRSLGPDAEPSSVLAFWRLICDTFRKIVDSKYFGRGIMIAILVNTLSMGIEYHEQPEE    701 - 770
LTNALEISNIVFTSLFALEMLLKLLVYGPFGYIKNPYNIFDGVIVVISVWEIVGQQGGGLSVLRTFRLMR    771 - 840
VLKLVRFLPALQRQLVVLMKTMDNVATFCMLLMLFIFIFSILGMHLFGCKFASERDGDTLPDRKNFDSLL    841 - 910
WAIVTVFQILTQEDWNKVLYNGMASTSSWAALYFIALMTFGNYVLFNLLVAILVEGFQAEEISKREDASG    911 - 980
QLSCIQLPVDSQGGDANKSESEPDFFSPSLDGDGDRKKCLALVSLGEHPELRKSLLPPLIIHTAATPMSL    981 - 1050
PKSTSTGLGEALGPASRRTSSSGSAEPGAAHEMKSPPSARSSPHSPWSAASSWTSRRSSRNSLGRAPSLK   1051 - 1120
RRSPSGERRSLLSGEGQESQDEEESSEEERASPAGSDHRHRGSLEREAKSSFDLPDTLQVPGLHRTASGR   1121 - 1190
GSASEHQDCNGKSASGRLARALRPDDPPLDGDDADDEGNLSKGERVRAWIRARLPACCLERDSWSAYIFP   1191 - 1260
PQSRFRLLCHRIITHKMFDHVVLVIIFLNCITIAMERPKIDPHSAERIFLTLSNYIFTAVFLAEMTVKVV   1261 - 1330
ALGWCFGEQAYLRSSWNVLDGLLVLISVIDILVSMVSDSGTKILGMLRVLRLLRTLRPLRVISRAQGLKL   1331 - 1400
VVETLMSSLKPIGNIVVICCAFFIIFGILGVQLFKGKFFVCQGEDTRNITNKSDCAEASYRWVRHKYNFD   1401 - 1470
NLGQALMSLFVLASKDGWVDIMYDGLDAVGVDQQPIMNHNPWMLLYFISFLLIVAFFVLNMFVGVVVENF   1471 - 1540
HKCRQHQEEEEARRREEKRLRRLEKKRRNLMLDDVIASGSSASAASEAQCKPYYSDYSRFRLLVHHLCTS   1541 - 1610
HYLDLFITGVIGLNVVTMAMEHYQQPQILDEALKICNYIFTVIFVLESVFKLVAFGFRRFFQDRWNQLDL   1611 - 1680
AIVLLSIMGITLEEIEVNASLPINPTIIRIMRVLRIARVLKLLKMAVGMRALLDTVMQALPQVGNLGLLF   1681 - 1750
MLLFFIFAALGVELFGDLECDETHPCEGLGRHATFRNFGMAFLTLFRVSTGDNWNGIMKDTLRDCDQEST   1751 - 1820
CYNTVISPIYFVSFVLTAQFVLVNVVIAVLMKHLEESNKEAKEEAELEAELELEMKTLSPQPHSPLGSPF   1821 - 1890
LWPGVEGPDSPDSPKPGALHPAAHARSASHFSLEHPTDRQLFDTISLLIQGSLEWELKLMDELAGPGGQP   1891 - 1960
SAFPSAPSLGGSDPQIPLAEMEALSLTSEIVSEPSCSLALTDDSLPDDMHTLLLSALESNMQPHPTELPG   1961 - 2030
PDLLTVRKSGVSRTHSLPNDSYMCRHGSTAEGPLGHRGWGLPKAQSGSVLSVHSQPADTSYILQLPKDAP   2031 - 2100
HLLQPHSAPTWGTIPKLPPPGRSPLAQRPLRRQAAIRTDSLDVQGLGSREDLLAEVSGPSPPLARAYSFW   2101 - 2170
GQSSTQAQQHSRSHSKISKHMTPPAPCPGPEPNWGKGPPETRSSLELDTELSWISGDLLPPGGQEEPPSP   2171 - 2240
RDLKKCYSVEAQSCQRRPTSWLDEQRRHSIAVSCLDSGSQPHLGTDPSNLGGQPLGGPGSRPKKKLSPPS   2241 - 2310
ITIDPPESQGPRTPPSPGICLRRRAPSSDSKDPLASGPPDSMAASPSPKKDVLSLSGLSSDPADLDP      2311 - 2377
//

Text Mined References (44)

PMID Year Title
26715324 2015 A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.
26456284 2015 A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
26056284 2015 Altered thalamocortical rhythmicity and connectivity in mice lacking CaV3.1 T-type Ca2+ channels in unconsciousness.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24268883 2014 Age-related downregulation of the CaV3.1 T-type calcium channel as a mediator of amyloid beta production.
23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
23488970 2013 Ethanol inhibition of a T-type Ca²+ channel through activity of protein kinase C.
22973060 2012 Fe²? block and permeation of CaV3.1 (?1G) T-type calcium channels: candidate mechanism for non-transferrin-mediated Fe²? influx.
22973059 2012 Cd²? block and permeation of CaV3.1 (?1G) T-type calcium channels: candidate mechanism for Cd²? influx.
22574369 2012 [Decreased mRNA expressions of T-type channel alpha1H and alpha1G in the sperm of varicocele patients and their implication].
22572848 2012 ZnT-1 enhances the activity and surface expression of T-type calcium channels through activation of Ras-ERK signaling.
22469755 2012 T-type voltage-activated calcium channel Cav3.1, but not Cav3.2, is involved in the inhibition of proliferation and apoptosis in MCF-7 human breast cancer cells.
21788606 2011 Functional importance of L- and P/Q-type voltage-gated calcium channels in human renal vasculature.
21438841 2011 Blockade of T-type Ca(2+) channels inhibits human ovarian cancer cell proliferation.
21084288 2011 Caveolin-3 regulates protein kinase A modulation of the Ca(V)3.2 (alpha1H) T-type Ca2+ channels.
20435690 2010 Alpha1G T-type calcium channel selectively regulates P-selectin surface expression in pulmonary capillary endothelium.
20416077 2010 Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
19455149 2010 High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.
19211869 2009 Genetic enhancement of thalamocortical network activity by elevating alpha 1g-mediated low-voltage-activated calcium current induces pure absence epilepsy.
18801335 2009 Modulation of Ca(v)3.1 T-type Ca2+ channels by the ran binding protein RanBPM.
18663132 2008 Ni2+ block of CaV3.1 (alpha1G) T-type calcium channels.
18663131 2008 Permeation and gating in CaV3.1 (alpha1G) T-type calcium channels effects of Ca2+, Ba2+, Mg2+, and Na+.
18591418 2008 Differential interactions of Na+ channel toxins with T-type Ca2+ channels.
17591929 2007 Evaluation of markers for CpG island methylator phenotype (CIMP) in colorectal cancer by a large population-based sample.
17446221 2007 Characterization of the molecular and electrophysiological properties of the T-type calcium channel in human myometrium.
17397049 2007 Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16671074 2006 Profiling the array of Ca(v)3.1 variants from the human T-type calcium channel gene CACNA1G: alternative structures, developmental expression, and biophysical variations.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16382099 2005 International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels.
15774856 2005 Low-voltage-activated (T-type) calcium channels control proliferation of human pulmonary artery myocytes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15465033 2004 The biochemical activation of T-type Ca2+ channels in HEK293 cells stably expressing alpha1G and Kir2.1 subunits.
12752779 2003 Regulation of alpha1G T-type calcium channel gene (CACNA1G) expression during neuronal differentiation.
12676336 2003 T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11927664 2002 Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability.
10692398 2000 Molecular and functional properties of the human alpha(1G) subunit that forms T-type calcium channels.
10648811 2000 Molecular cloning and functional expression of Ca(v)3.1c, a T-type calcium channel from human brain.
10574461 1999 Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
10548410 1999 Structure and alternative splicing of the gene encoding alpha1G, a human brain T calcium channel alpha1 subunit.
10493502 1999 Inactivation of CACNA1G, a T-type calcium channel gene, by aberrant methylation of its 5' CpG island in human tumors.
9495342 1998 Molecular characterization of a neuronal low-voltage-activated T-type calcium channel.