Property Summary

NCBI Gene PubMed Count 239
Grant Count 277
R01 Count 182
Funding $34,238,885.91
PubMed Score 489.25
PubTator Score 422.68

Knowledge Summary

Patent (8,673)

Expression

Gene

PDB

1T0J   2BE6   2F3Y   2F3Z   2LQC   3G43   3OXQ  

MLP Assay (10)

AID Type Active / Inconclusive / Inactive Description
686924 other 0 / 0 / 1 ML347 Eurofin Panel Assay for BMP Inhibitor (Probe Compound)
686925 other 0 / 0 / 1 ML352 Eurofin Panel Assay for Choline Transporter Inhibitor (Probe Compound)
686926 other 0 / 0 / 1 ML354 Eurofin Panel Assay for PAR4 Antagonists Inhibitor (Probe Compound)
686927 other 0 / 0 / 1 ML353 Eurofin Panel Assay for mGlu5 SAM Inhibitor (Probe Compound)
743249 screening 1 / 0 / 0 Development of the First Potent, Selective and CNS penetrant M5 Negative Allosteric Modulator (NAM)
743250 screening 1 / 0 / 0 Discovery and characterization of a small molecule allosteric agonists of mas-related G-Protein coupled receptor X1 ( MrgX1)
743251 screening 1 / 0 / 0 Development of a novel orthosteric Muscarinic 5 (M5) antagonist possessing a hig degree of muscarinic subtype selectivity
743252 screening 1 / 0 / 0 Development of the first CNS penetrant Muscarinic 5 (M5) Positive Allosteric Modulator based on a novel non-isatin core
743435 other 0 / 0 / 0 Development of inhibitors for Dopamine D4 Receptors: Eurofin Panel Assay Results
743437 other 0 / 0 / 0 Development of inhibitors for PLD2 (Eurofin Panel Assay Results)

Gene RIF (202)

PMID Text
27124316 SNPs associated with diabetic cataract
26611642 CACNA1C risk variant affects facial emotion recognition in healthy individuals.
26553695 This integrative genomic study confirmed the role of RUNX2 as a potential driver of AS and identified a new AS susceptibility gene, CACNA1C, belonging to the calcium signaling pathway.
26541689 The linking variation in the CACNA1C gene is a neurochemical marker of neuroaxonal plasticity in those with bipolar disorder.
26525885 Single nucleotide polymorphism in an intron of the CACNA1C gene conveyed an increased risk for developing Bipolar disorder.
26509803 Study suggests initial support for a link between bipolar disorder risk SNPs rs472913 (1p32.1) and rs1006737 (CACNA1C) and brain arousal regulation
26507659 the consensus motifs of S-nitrosylation were much more abundant in Cav2.2 than in Cav1.2 and Cav2.1.
26476274 CACNA1C modulates the cellular rhythm amplitude response to lithium, providing a specific link between LTCCs and circadian rhythms in the context of Bipolar disorder and lithium
26475575 The associations of CACNA1C rs10774035 with outcome in schizophrenia-spectrum and non-association with outcome in bipolar disorders
26406417 Copy number increase of CACNA1C are associated with esophageal squamous cell carcinoma.
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AA Sequence

MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAARQAKLMGSAGN      1 - 70
ATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISIVEWKPFEIIILLTIFANCVA     71 - 140
LAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIAYGLLFHPNAYLRNGWNLLDFIIVVVGLFSA    141 - 210
ILEQATKADGANALGGKGAGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVII    211 - 280
IYAIIGLELFMGKMHKTCYNQEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFA    281 - 350
FAMLTVFQCITMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD    351 - 420
FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVAGGDIEGENCG    421 - 490
ARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNTLTIASEHYNQPNWLTEVQDTAN    491 - 560
KALLALFTAEMLLKMYSLGLQAYFVSLFNRFDCFVVCGGILETILVETKIMSPLGISVLRCVRLLRIFKI    561 - 630
TRYWNSLSNLVASLLNSVRSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDEMQTRRSTFDNFPQSLLTVF    631 - 700
QILTGEDWNSVMYDGIMAYGGPSFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLADAESLTSAQKEEE    701 - 770
EEKERKKLARTASPEKKQELVEKPAVGESKEEKIELKSITADGESPPATKINMDDLQPNENEDKSPYPNP    771 - 840
ETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAFFIFSSNNRFRLQCHRIVNDTIFTNLILFFI    841 - 910
LLSSISLAAEDPVQHTSFRNHILFYFDIVFTTIFTIEIALKILGNADYVFTSIFTLEIILKMTAYGAFLH    911 - 980
KGSFCRNYFNILDLLVVSVSLISFGIQSSAINVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIG    981 - 1050
NIVIVTTLLQFMFACIGVQLFKGKLYTCSDSSKQTEAECKGNYITYKDGEVDHPIIQPRSWENSKFDFDN   1051 - 1120
VLAAMMALFTVSTFEGWPELLYRSIDSHTEDKGPIYNYRVEISIFFIIYIIIIAFFMMNIFVGFVIVTFQ   1121 - 1190
EQGEQEYKNCELDKNQRQCVEYALKARPLRRYIPKNQHQYKVWYVVNSTYFEYLMFVLILLNTICLAMQH   1191 - 1260
YGQSCLFKIAMNILNMLFTGLFTVEMILKLIAFKPKGYFSDPWNVFDFLIVIGSIIDVILSETNHYFCDA   1261 - 1330
WNTFDALIVVGSIVDIAITEVNPAEHTQCSPSMNAEENSRISITFFRLFRVMRLVKLLSRGEGIRTLLWT   1331 - 1400
FIKSFQALPYVALLIVMLFFIYAVIGMQVFGKIALNDTTEINRNNNFQTFPQAVLLLFRCATGEAWQDIM   1401 - 1470
LACMPGKKCAPESEPSNSTEGETPCGSSFAVFYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPH   1471 - 1540
HLDEFKRIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNATL   1541 - 1610
FALVRTALRIKTEGNLEQANEELRAIIKKIWKRTSMKLLDQVVPPAGDDEVTVGKFYATFLIQEYFRKFK   1611 - 1680
KRKEQGLVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEEELDKAMKEAVSAASEDDIFRRAGGL   1681 - 1750
FGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDTESPSHEKLVDSTFTPSSYSSTGSNANINNANN   1751 - 1820
TALGRLPRPAGYPSTVSTVEGHGPPLSPAIRVQEVAWKLSSNRERHVPMCEDLELRRDSGSAGTQAHCLL   1821 - 1890
LRKANPSRCHSRESQAAMAGQEETSQDETYEVKMNHDTEACSEPSLLSTEMLSYQDDENRQLTLPEEDKR   1891 - 1960
DIRQSPKRGFLRSASLGRRASFHLECLKRQKDRGGDISQKTVLPLHLVHHQALAVAGLSPLLQRSHSPAS   1961 - 2030
FPRPFATPPATPGSRGWPPQPVPTLRLEGVESSEKLNSSFPSIHCGSWAETTPGGGGSSAARRVRPVSLM   2031 - 2100
VPSQAGAPGRQFHGSASSLVEAVLISEGLGQFAQDPKFIEVTTQELADACDMTIEEMESAADNILSGGAP   2101 - 2170
QSPNGALLPFVNCRDAGQDRAGGEEDAGCVRARGRPSEEELQDSRVYVSSL                      2171 - 2221
//

Text Mined References (242)

PMID Year Title
27218670 2016 Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.
27124316 2016 A Genome-Wide Association Study Provides New Evidence That CACNA1C Gene is Associated With Diabetic Cataract.
26611642 2015 CACNA1C risk variant affects facial emotion recognition in healthy individuals.
26553695 2015 Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease.
26541689 2016 CACNA1C polymorphism and altered phosphorylation of tau in bipolar disorder.
26525885 2015 Emergent treatments based on the pathophysiology of bipolar disorder: A selective review.
26509803 2015 Brain Arousal Regulation in Carriers of Bipolar Disorder Risk Alleles.
26507659 2015 Molecular Basis of Regulating High Voltage-Activated Calcium Channels by S-Nitrosylation.
26476274 2016 Calcium channel genes associated with bipolar disorder modulate lithium's amplification of circadian rhythms.
26475575 2015 A common risk variant in CACNA1C supports a sex-dependent effect on longitudinal functioning and functional recovery from episodes of schizophrenia-spectrum but not bipolar disorder.
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