Property Summary

NCBI Gene PubMed Count 66
Grant Count 133
R01 Count 81
Funding $23,780,703.94
PubMed Score 256.87
PubTator Score 106.13

Knowledge Summary

Patent (5,888)

Expression

Synonym

Accession Q01668 B0FYA3 Q13916 Q13931 Q71UT1 Q9UDC3
Symbols CACH3
CACN4
PASNA
SANDD
Cav1.3
CCHL1A2
CACNL1A2

Gene

PDB

3LV3  

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
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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.
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