Property Summary

NCBI Gene PubMed Count 198
Grant Count 206
R01 Count 121
Funding $34,041,801.51
PubMed Score 1066.07
PubTator Score 1044.93

Knowledge Summary

Patent (22,628)

Expression

Synonym

Accession O00555 J3KP41 P78510 P78511 Q16290 Q92690 Q99790 Q99791 Q99792 Q99793 Q9NS88 Q9UDC4
Symbols BI
EA2
FHM
MHP
APCA
HPCA
MHP1
SCA6
CAV2.1
EIEE42
CACNL1A4

Gene

PDB

3BXK  

Gene RIF (165)

PMID Text
26912519 Cav2.1 dysfunction in episodic ataxia type 2 has unexpected effects on axon excitability.
26566276 CACNA1A might play a role in the etiology of autism as demonstrated in the Chinese Han population
26507659 the consensus motifs of S-nitrosylation were much more abundant in Cav2.2 than in Cav1.2 and Cav2.1.
26216687 Study revealed no association between the 15 tagSNPs of CACNA1A, 1C, and 1H and antiepileptic drug efficacy in the Chinese Han epileptic population; the TAGAA haplotype of CACNA1A may be a risk factor for drug resistance
26063920 The results of this study suggest that the polyQ carrying the CT fragment of the P/Q-type channel is sufficient to cause SCA6 pathogenesis in mice.
25954029 Expression of DnaJ-1 potently suppresses alpha1ACT-dependent degeneration , concomitant with decreased aggregation of the pathogenic protein. Mutating the nuclear importer karyopherin a3 also leads to reduced toxicity from pathogenic CACNA1A
25869926 South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes
25784583 This study showed that Genetic analyses identified a nonsense mutation in exon 23 which has been registered in dbSNP as a pathogenic allele.
25735478 This report illustrates the phenotypic heterogeneity of CACNA1A loss-of-function mutations and stresses the cognitive and epileptic manifestations caused by the loss of CaV2.1 channels function
25706626 A genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to exfoliation syndrome.
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AA Sequence

MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQN      1 - 70
CLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYF     71 - 140
IGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIP    141 - 210
SLQVVLKSIMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPART    211 - 280
CPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFF    281 - 350
MLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGA    351 - 420
LRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFY    421 - 490
WTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVII    491 - 560
GSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFIVVFAL    561 - 630
LGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLF    631 - 700
GNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKP    701 - 770
AKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSR    771 - 840
AAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGS    841 - 910
LEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAERRARH    911 - 980
REGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRP    981 - 1050
IQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNA   1051 - 1120
ASRRTPNNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNA   1121 - 1190
NPDPLPKKEEEKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIA   1191 - 1260
LAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAF   1261 - 1330
TGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFK   1331 - 1400
GKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSV   1401 - 1470
DATFENQGPSPGYRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAIS   1471 - 1540
AKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFS   1541 - 1610
LECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRI   1611 - 1680
LLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRTFFQALMLLF   1681 - 1750
RSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRD   1751 - 1820
SSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNT   1821 - 1890
VHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAM   1891 - 1960
MIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPS   1961 - 2030
WVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAE   2031 - 2100
NQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGR   2101 - 2170
YTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRAR   2171 - 2240
ARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRKAGGS   2241 - 2310
GPPQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPR   2311 - 2380
ACRHGGARWPASGPHVSEGPPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRS   2381 - 2450
PRTPRASGPACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC                  2451 - 2505
//

Text Mined References (206)

PMID Year Title
26912519 2016 In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.
26716990 2015 A Single Amino Acid Deletion (?F1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
26566276 2015 Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population.
26507659 2015 Molecular Basis of Regulating High Voltage-Activated Calcium Channels by S-Nitrosylation.
26216687 2015 Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population.
26063920 2015 Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25954029 2015 DnaJ-1 and karyopherin ?3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.
25869926 2015 ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
25784583 2015 Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.
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