Property Summary

NCBI Gene PubMed Count 66
PubMed Score 256.87
PubTator Score 106.13

Knowledge Summary

Patent (5,888)

TINX Plot

  Disease (8)

Disease Target Count
Adenoma 165
Deafness 18
Refractive Errors 18
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Refractive error 43 0.0 2.0
Type 2 diabetes mellitus 192 0.0 1.0
Disease Target Count Z-score Confidence
Epilepsy 346 0.0 4.0

Expression

  Differential Expression (17)

Disease log2 FC p
posterior fossa group A ependymoma -2.500 2.6e-12
glioblastoma -2.500 2.5e-04
osteosarcoma -1.233 1.0e-02
medulloblastoma -2.500 1.5e-04
atypical teratoid / rhabdoid tumor -3.200 8.9e-11
medulloblastoma, large-cell -3.500 1.6e-06
primitive neuroectodermal tumor -1.500 1.8e-02
non-small cell lung cancer -1.223 1.7e-10
intraductal papillary-mucinous carcinoma... 2.400 6.5e-03
intraductal papillary-mucinous neoplasm ... 2.000 4.0e-02
lung cancer -3.600 1.3e-05
interstitial cystitis -2.300 2.1e-04
lung adenocarcinoma -1.200 2.5e-07
pediatric high grade glioma -2.000 8.7e-05
lung carcinoma 2.500 5.4e-25
ductal carcinoma in situ 1.300 2.0e-02
invasive ductal carcinoma 1.700 1.3e-02

Protein-protein Interaction (1)

Gene RIF (47)

PMID Text
26606680 patients with CACNA1D mutations displayed characteristics similar to wild-type aldosterone-producing adenomas
26586120 LRP1B, BRD2 and CACNA1D are new candidate genes in fetal metabolic programming of newborns exposed to maternal hyperglycemia.
26351028 Different mutations (KCNJ5, ATP1A1, ATP2B3, and CACNA1D) are found in different aldosterone-producing nodules from the same adrenal, suggesting that somatic mutations are independent events triggered by mechanisms that remain to be identified.
26285814 Mutations in CACNA1D gene is associated with aldosterone-producing adenomas.
26255836 CACNA1D might not be a risk gene for SCZ in Han Chinese population, which add to the current state of knowledge regarding the susceptibility of CACNA1D to schizophrenia.
26049024 In overall, we provide evidence that Cav1.2 and Cav1.3 isoforms are capable of potentially functioning as zinc permeation routes, through which zinc entry can be differentially augmented by mild acidifications.
25966695 Studies indicate a role for L-type calcium channel Cav1.3 and Cav1.4 in cochlear inner hair cells (IHCs) and retinal photoreceptors (PRs).
25966692 Studies indicate the function of L-type calcium channels Cav1.3 in chromaffin cells.
25805831 Cav1.3 was overexpressed in atypical hyperplasia and endometrial carcinoma, and the estrogen-induced phosphorylation of downstream molecular ERK1/2 and CREB is the result of activation of the GPER pathway.
25620733 Study found that two de novo CACNA1D missense mutations affect evolutionary highly conserved regions in the channel's activation gate and disrupt normal channel activity by inducing a pronounced gain of channel function
25538241 ablation of Cav1.3 results in a decrease in the protein expression of myosin light chain 2, which interacts and increases the membrane localization of SK2 channels.
25249183 A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D, CYP21A2, and MED13L) and a newly discovered variant near SLC4A7.
24996399 Article summarises the latest findings and specify the roles of Cav1.2 and Cav1.3 in neurological and psychiatric diseases.Individually, CACNA1C polymorphisms and CACNA1D variants have been linked to a variety of psychiatric diseases and to congenital deafness, respectively. [Review]
24941892 Cp8 is a new of Cav1.2 and Cav1.3 channel activators.
24866132 in patients with aldosterone-producing adenomas, CACNA1D mutations were associated with smaller adenomas.
24849370 The calcium inflow through Cav1.2 and Cav1.3 channels in murine spiral ganglion neurons.
24703308 Results illustrate that the voltage sensors of Cav1.3 channels respond more sensitively to depolarization than those of Cav1.2 or Cav3.1
24120865 RNA editing of CaV1.3 channels(CDI) acts to modulate CDI in ways that substantiate a recently emerging mechanism where apoCaM begins preassociated with the IQ domain and other channel elements.
24054868 CACNA1D gene overexpression is associated with prostate cancer progression and might play an important role in Ca(2+) influx, AR activation, and cell growth in prostate cancer cells
23973784 Mouse Rad Q65P (the murine equivalent of human Rad Q66P) inhibits L-type currents conducted by CaV1.2 or CaV1.3 channels as potently as wild-type Rad (>95% inhibition of both channels).
23924992 A novel mechanism for modulation of the pharmacologic properties of the CaV1.3 channel is identified through posttranscriptional modification of the C terminus.
23913004 Somatic mutations in either ATP1A1 and CACNA1D were found in a subset of adrenal aldosterone-producing adenomas with a zona glomerulosa-like phenotype.
23913001 These findings implicate gain-of-function CACNA1D Ca(2+) channel mutations in adrenal aldosterone-producing adenomas and primary aldosteronism.
23791743 modulation of Cav1.3 Ca channel by calreticulin may be involved in pathological settings such as autoimmune associated congenital heart block where Cav1.3 Ca channels are downregulated
23591884 N-lobe of Ca(2+)-calmodulin binds an N-terminal spatial Ca(2+) transforming element module on the channel amino terminus, whereas the C-lobe binds an EF-hand region upstream of the IQ domain
23229155 conclude that the L-type calcium channel Cav1.3 is important in human glucose-induced insulin secretion, and common variants in CACNA1D might contribute to type 2 diabetes.
21998310 Functional properties of a newly identified C-terminal splice variant of Cav1.3 L-type Ca2+ channels
21998309 analysis of functional characterization of alternative splicing in the C terminus of L-type CaV1.3 channels
21859974 A novel pathway for ankyrin-B-dependent regulation of Cav1.3 channel membrane targeting and regulation is found in atrial myocytes.
21737448 CaV1.3 channels and intracellular calcium mediate osmotic stress-induced N-terminal c-Jun kinase activation and disruption of tight junctions in Caco-2 CELL MONOLAYERS.
21352396 Overexpression of Cav1.2 rescues electrocardiographic abnormalities, whereas deletion of Cav1.3 exacerbates the abnormalities in congenital heart block.
21131953 We describe a human channelopathy (termed SANDD syndrome, sinoatrial node dysfunction and deafness) with a cardiac and auditory phenotype that closely resembles that of Cacna1d-/- mice.
20424473 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20363327 These data suggest that RIM2beta contributes to the stabilization of Ca(v)1.3 gating kinetics in immature cochlear inner hair cells.
19885716 Ca(v)1.3 was the sole apical channel responsible for the PRL-stimulated transcellular calcium transport in intestine-like Caco-2 monolayer.
19351867 Overexpression of the intracellular II-III loop domains of Cav1.2, and possibly Cav1.3, can dislodge the corresponding endogenous channels from the lipid raft regions of the membrane in rat insulinoma (INS-1) cells.
19339512 Enhancement of calcium transport in Caco-2 monolayer through PKCzeta-dependent Cav1.3-mediated transcellular and rectifying paracellular pathways by prolactin.
19240061 Observational study of gene-disease association. (HuGE Navigator)
19225208 Three SNPs in CACNA1D or CACNA1C are genetic polymorphisms conferring sensitivity to the antihypertensive effects of L-type dCCBs in patients with hypertension.
19225208 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19004828 Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.
18482979 analysis of Ca2+-dependent gating of CaV1.3 L-type calcium channels by alternative splicing of a C-terminal regulatory domain
16973824 The modulation of alpha(1D) Ca(2+) channel by PKC was prevented by dialyzing cells with a 35-amino acid peptide mimicking the alpha(1D) NH(2)-terminal region comprising S81.
15939813 demonstrate (1) expression of the alpha1D Ca channel in human fetal heart, (2) inhibition of alpha1D I(Ca-L) by positive IgG, and (3) direct cross-reactivity of positive IgG with the alpha1D Ca channel protein
14981074 functional but non-voltage-gated L-type Ca2+ channels are expressed at the plasma membrane in T cells and play a role in the antigen receptor-mediated Ca2+ flux in these cells
11424233 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAARQAKAAQTMS      1 - 70
TSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPARALFCLSLNNPIRRACISIVEWKPFDIFILLAIFANC     71 - 140
VALAIYIPFPEDDSNSTNHNLEKVEYAFLIIFTVETFLKIIAYGLLLHPNAYVRNGWNLLDFVIVIVGLF    141 - 210
SVILEQLTKETEGGNHSSGKSGGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLF    211 - 280
VIIIYAIIGLELFIGKMHKTCFFADSDIVAEEDPAPCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNF    281 - 350
AFAMLTVFQCITMEGWTDVLYWMNDAMGFELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARG    351 - 420
DFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGEEGKRNTSMPTSETESVNTENVSGEGENRGCCG    421 - 490
SLCQAISKSKLSRRWRRWNRFNRRRCRAAVKSVTFYWLVIVLVFLNTLTISSEHYNQPDWLTQIQDIANK    491 - 560
VLLALFTCEMLVKMYSLGLQAYFVSLFNRFDCFVVCGGITETILVELEIMSPLGISVFRCVRLLRIFKVT    561 - 630
RHWTSLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDETQTKRSTFDNFPQALLTVFQ    631 - 700
ILTGEDWNAVMYDGIMAYGGPSSSGMIVCIYFIILFICGNYILLNVFLAIAVDNLADAESLNTAQKEEAE    701 - 770
EKERKKIARKESLENKKNNKPEVNQIANSDNKVTIDDYREEDEDKDPYPPCDVPVGEEEEEEEEDEPEVP    771 - 840
AGPRPRRISELNMKEKIAPIPEGSAFFILSKTNPIRVGCHKLINHHIFTNLILVFIMLSSAALAAEDPIR    841 - 910
SHSFRNTILGYFDYAFTAIFTVEILLKMTTFGAFLHKGAFCRNYFNLLDMLVVGVSLVSFGIQSSAISVV    911 - 980
KILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQLFKGKFYRCTDEAKS    981 - 1050
NPEECRGLFILYKDGDVDSPVVRERIWQNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDSNGENIGP   1051 - 1120
IYNHRVEISIFFIIYIIIVAFFMMNIFVGFVIVTFQEQGEKEYKNCELDKNQRQCVEYALKARPLRRYIP   1121 - 1190
KNPYQYKFWYVVNSSPFEYMMFVLIMLNTLCLAMQHYEQSKMFNDAMDILNMVFTGVFTVEMVLKVIAFK   1191 - 1260
PKGYFSDAWNTFDSLIVIGSIIDVALSEADPTESENVPVPTATPGNSEESNRISITFFRLFRVMRLVKLL   1261 - 1330
SRGEGIRTLLWTFIKSFQALPYVALLIAMLFFIYAVIGMQMFGKVAMRDNNQINRNNNFQTFPQAVLLLF   1331 - 1400
RCATGEAWQEIMLACLPGKLCDPESDYNPGEEYTCGSNFAIVYFISFYMLCAFLIINLFVAVIMDNFDYL   1401 - 1470
TRDWSILGPHHLDEFKRIWSEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNS   1471 - 1540
DGTVMFNATLFALVRTALKIKTEGNLEQANEELRAVIKKIWKKTSMKLLDQVVPPAGDDEVTVGKFYATF   1541 - 1610
LIQDYFRKFKKRKEQGLVGKYPAKNTTIALQAGLRTLHDIGPEIRRAISCDLQDDEPEETKREEEDDVFK   1611 - 1680
RNGALLGNHVNHVNSDRRDSLQQTNTTHRPLHVQRPSIPPASDTEKPLFPPAGNSVCHNHHNHNSIGKQV   1681 - 1750
PTSTNANLNNANMSKAAHGKRPSIGNLEHVSENGHHSSHKHDREPQRRSSVKRTRYYETYIRSDSGDEQL   1751 - 1820
PTICREDPEIHGYFRDPHCLGEQEYFSSEECYEDDSSPTWSRQNYGYYSRYPGRNIDSERPRGYHHPQGF   1821 - 1890
LEDDDSPVCYDSRRSPRRRLLPPTPASHRRSSFNFECLRRQSSQEEVPSSPIFPHRTALPLHLMQQQIMA   1891 - 1960
VAGLDSSKAQKYSPSHSTRSWATPPATPPYRDWTPCYTPLIQVEQSEALDQVNGSLPSLHRSSWYTDEPD   1961 - 2030
ISYRTFTPASLTVPSSFRNKNSDKQRSADSLVEAVLISEGLGRYARDPKFVSATKHEIADACDLTIDEME   2031 - 2100
SAASTLLNGNVRPRANGDVGPLSHRQDYELQDFGPGYSDEEPDPGRDEEDLADEMICITTL            2101 - 2161
//

Text Mined References (70)

PMID Year Title
26606680 2016 Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase or CACNA1D Gene Mutations.
26586120 2015 LRP1B, BRD2 and CACNA1D: new candidate genes in fetal metabolic programming of newborns exposed to maternal hyperglycemia.
26351028 2015 Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma.
26285814 2015 Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas.
26255836 2015 Evaluation of genetic susceptibility of common variants in CACNA1D with schizophrenia in Han Chinese.
26049024 2015 Differential zinc permeation and blockade of L-type Ca2+ channel isoforms Cav1.2 and Cav1.3.
25966695 2015 Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing.
25966692 2015 Cav1.3 Channels as Key Regulators of Neuron-Like Firings and Catecholamine Release in Chromaffin Cells.
25805831 2015 Ca2+ channel subunit ? 1D promotes proliferation and migration of endometrial cancer cells mediated by 17?-estradiol via the G protein-coupled estrogen receptor.
25620733 2015 CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.
25538241 2015 Regulation of gene transcription by voltage-gated L-type calcium channel, Cav1.3.
25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
25055868 2014 Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
24996399 2014 The role of L-type voltage-gated calcium channels Cav1.2 and Cav1.3 in normal and pathological brain function.
24941892 2014 Pyrimidine-2,4,6-triones are a new class of voltage-gated L-type Ca2+ channel activators.
24866132 2014 Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
24849370 2014 Genetic, cellular, and functional evidence for Ca2+ inflow through Cav1.2 and Cav1.3 channels in murine spiral ganglion neurons.
24703308 2014 C-terminal modulatory domain controls coupling of voltage-sensing to pore opening in Cav1.3 L-type Ca(2+) channels.
24144296 2013 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
24120865 2013 Continuously tunable Ca(2+) regulation of RNA-edited CaV1.3 channels.
24054868 2014 Cav1.3 channel ?1D protein is overexpressed and modulates androgen receptor transactivation in prostate cancers.
23973784 2013 Potent inhibition of L-type Ca2+ currents by a Rad variant associated with congestive heart failure.
23924992 2013 C-terminal alternative splicing of CaV1.3 channels distinctively modulates their dihydropyridine sensitivity.
23913004 2013 Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
23913001 2013 Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
23791743 2013 Calreticulin negatively regulates the surface expression of Cav1.3 L-type calcium channel.
23591884 2013 Dynamic switching of calmodulin interactions underlies Ca2+ regulation of CaV1.3 channels.
23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
23229155 2013 The human L-type calcium channel Cav1.3 regulates insulin release and polymorphisms in CACNA1D associate with type 2 diabetes.
21998310 2011 Functional properties of a newly identified C-terminal splice variant of Cav1.3 L-type Ca2+ channels.
21998309 2011 Functional characterization of alternative splicing in the C terminus of L-type CaV1.3 channels.
21901158 2011 Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
21859974 2011 Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation.
21737448 2011 CaV1.3 channels and intracellular calcium mediate osmotic stress-induced N-terminal c-Jun kinase activation and disruption of tight junctions in Caco-2 CELL MONOLAYERS.
21352396 2011 Rescue and worsening of congenital heart block-associated electrocardiographic abnormalities in two transgenic mice.
21280120 2011 Loss of recognition by cross-reactive T cells and its relation to a C-terminus-induced conformational reorientation of an HLA-B*2705-bound peptide.
21131953 2011 Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
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.
20363327 2010 Modulation of Cav1.3 Ca2+ channel gating by Rab3 interacting molecule.
19885716 2010 Transepithelial calcium transport in prolactin-exposed intestine-like Caco-2 monolayer after combinatorial knockdown of TRPV5, TRPV6 and Ca(v)1.3.
19351867 2009 The intracellular II-III loops of Cav1.2 and Cav1.3 uncouple L-type voltage-gated Ca2+ channels from glucagon-like peptide-1 potentiation of insulin secretion in INS-1 cells via displacement from lipid rafts.
19339512 2009 Enhancement of calcium transport in Caco-2 monolayer through PKCzeta-dependent Cav1.3-mediated transcellular and rectifying paracellular pathways by prolactin.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19225208 2009 Genetic polymorphisms of L-type calcium channel alpha1C and alpha1D subunit genes are associated with sensitivity to the antihypertensive effects of L-type dihydropyridine calcium-channel blockers.
19004828 2009 Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.
18482979 2008 Modulation of voltage- and Ca2+-dependent gating of CaV1.3 L-type calcium channels by alternative splicing of a C-terminal regulatory domain.
17110593 2007 Molecular coupling of a Ca2+-activated K+ channel to L-type Ca2+ channels via alpha-actinin2.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16973824 2006 Protein kinase C activation inhibits Cav1.3 calcium channel at NH2-terminal serine 81 phosphorylation site.
16921373 2006 C-terminal modulator controls Ca2+-dependent gating of Ca(v)1.4 L-type Ca2+ channels.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
15939813 2005 Novel molecular mechanism involving alpha1D (Cav1.3) L-type calcium channel in autoimmune-associated sinus bradycardia.
14981074 2004 Non-voltage-gated L-type Ca2+ channels in human T cells: pharmacology and molecular characterization of the major alpha pore-forming and auxiliary beta-subunits.
11581302 2001 Requirement for the L-type Ca(2+) channel alpha(1D) subunit in postnatal pancreatic beta cell generation.
11441182 2001 A beta2 adrenergic receptor signaling complex assembled with the Ca2+ channel Cav1.2.
11424233 Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients.
11292657 2001 Fibroblast growth factor receptor 2 (FGFR2) in brain neurons and retinal pigment epithelial cells act via stimulation of neuroendocrine L-type channels (Ca(v)1.3).
11285265 2001 alpha 1D (Cav1.3) subunits can form l-type Ca2+ channels activating at negative voltages.
11160515 2001 Biophysical properties, pharmacology, and modulation of human, neuronal L-type (alpha(1D), Ca(V)1.3) voltage-dependent calcium currents.
10468580 1999 Syntaxin 1 interacts with the L(D) subtype of voltage-gated Ca(2+) channels in pancreatic beta cells.
9894156 1998 Genomic structure of the regulatory region of the voltage-gated calcium channel alpha 1D.
8738134 1996 Characterization of an L-type calcium channel expressed by human retinal Müller (glial) cells.
7557998 1995 The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes.
1849233 1991 Primary structure and functional expression from complementary DNA of a brain calcium channel.
1664412 1991 A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3.
1335101 1992 Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma.
1324226 1992 Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3.
1309948 1992 Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells.
1309651 1992 Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.