Property Summary

NCBI Gene PubMed Count 59
Grant Count 50
R01 Count 33
Funding $7,801,306.04
PubMed Score 198.58
PubTator Score 137.81

Knowledge Summary

Patent (2,064)

Expression

  Differential Expression (1)

Disease log2 FC p
ovarian cancer 1.300 0.000

Synonym

Accession O60840 A6NI29 F5CIQ9 O43901 O95226 Q9UHB1
Symbols JM8
OA2
AIED
COD3
COD4
JMC8
CORDX
CSNB2
CORDX3
CSNB2A
CSNBX2
Cav1.4
Cav1.4alpha1

Gene

Gene RIF (34)

PMID Text
26436388 a single nucleotide change c.1555C>T in exon 13 of the CACNA1F gene, leading to the substitution of arginine by tryptophan (p.R519W) in a Chinese individual affected by retinitis pigmentosa, is identified.
26075273 novel heterozygous missense mutation (c.1555C>T, p.R519W) in CACNA1F gene, which is probably associated with XLRP.
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).
25468907 analysis of Cav1.4 complexes alpha11.4, beta2, and alpha2delta4 in HEK293T cells and in mouse retina
24796500 Mutation in Cav1.4 gene is associated with congenital stationary night blindness type 2.
24163243 Data on Cav1.4 deficient mice and human female carriers of mutations in CACNA1F are consistent with a phenotype of mosaic congenital stationary night blindness type 2A.
24124559 Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations.
23714322 In 55 male patients with Congenital Stationary Night Blindness 2, we identified 26 pathogenic sequence changes in the CACNA1F gene. Seventeen of these were novel, 14 of these mutations were nonsense or frameshift mutations, and 3 were missense mutations.
23219801 Mutations in Ca(v)1.4 alpha1 are associated with X-linked retinal disorders.
22936811 Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).
More...

AA Sequence

MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTVAVASAQRSPR      1 - 70
ALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTV     71 - 140
ETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGFDVKALRAFRV    141 - 210
LRPLRLVSGVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDP    211 - 280
SPCASSGSGRACTLNQTECRGRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWV    281 - 350
YFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS    351 - 420
ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTETQGDEDEEEG    421 - 490
ALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVFLNTLTIASEHHGQPVWLTQI    491 - 560
QEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFVVCGGILETTLVEVGAMQPLGISVLRCVRLL    561 - 630
RIFKVTRHWASLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQA    631 - 700
LLTVFQILTGEDWNVVMYDGIMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAK    701 - 770
DKGGEKSNEKDLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKE    771 - 840
KVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFRNHILGYFDYA    841 - 910
FTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSSAISVVKILRVLRVLRPLRAI    911 - 980
NRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQLFKGKFYTCTDEAKHTPQECKGSFLVYPDG    981 - 1050
DVSRPLVRERLWVNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVY   1051 - 1120
IIIIAFFMMNIFVGFVIITFRAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSA   1121 - 1190
AFEYLMFLLILLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDAL   1191 - 1260
IVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTFIKSFQALPYV   1261 - 1330
ALLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLASLPGNRCDP   1331 - 1400
ESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYD   1401 - 1470
PGAKGRIKHLDVVALLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTE   1471 - 1540
GNLEQANQELRIVIKKIWKRMKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAA   1541 - 1610
PSTSSALQAGLRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVS   1611 - 1680
LPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGTKGQNKQDEDE   1681 - 1750
EVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRKPSFTIQCLQRQGSCEDLPIP   1751 - 1820
GTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAAGEGYLGRSSGPLRTFTCLHVPGTHSDPSHG   1821 - 1890
KRGSADSLVEAVLISEGLGLFARDPRFVALAKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILS   1891 - 1960
RFDEEDLGDEMACVHAL                                                        1961 - 1977
//

Text Mined References (58)

PMID Year Title
26436388 2015 Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers.
26075273 2015 Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing.
25966695 2015 Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing.
25468907 2015 Characterization of Cav1.4 complexes (?11.4, ?2, and ?2?4) in HEK293T cells and in the retina.
24796500 2014 Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
24163243 2014 Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
24124559 2013 A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.
23714322 2013 Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
23219801 2013 What can naturally occurring mutations tell us about Ca(v)1.x channel function?
22936811 2012 Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).
More...