Property Summary

NCBI Gene PubMed Count 59
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 3.5e-09

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).
22744390 This is the first case report describing outer retinal structural anomaly consistent with abnormal bipolar cell synapses in CACNA1F-related disease.
22735794 The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB).
22194652 A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a Canadian family.
21920492 Congenital stationary night blindness (CSNB2) patients had significantly thinner retinas than myopic controls; and demonstrated qualitatively normal SD OCT and FAF images, and therefore can be differentiated from retinitis pigmentosa patients.
20801516 Observational study of genetic testing. (HuGE Navigator)
20398921 Observational study of gene-disease association. (HuGE Navigator)
18206315 Temperature dependence of Cav1.4 calcium channel gating.
17949918 These findings suggest that the pathology of CSNB-2 in patients with these missense mutations in the Ca(v)1.4 calcium channel is the result in either a gain of function (F742C) or a loss of function (G1007R, R1049W).
17651254 Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution
17525176 The present study clearly indicates that AIED (Aland Island eye disease) is also caused by a novel CACNA1F gene mutation.
16505158 X linked cone-rod dystrophy (CORDX3), is caused by a mutation in CACNA1F.
16476079 The clinical phenotype of R508Q and L1364H night blindness mutations is unlikely to be explained by changes in channel gating. Instead, these mutations affect the protein expression of Ca(v)1.4 Ca(2+) channels.
16085774 Cav1.4 encodes a calcium channel with low open probability and unitary conductance
15897456 A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
15807819 Molecular analyses, reported separately, identified a novel I745T CACNA1F mutation that was associated in vitro with major alterations in gating and kinetics of the Ca(v)1.4 channel.
15761389 In a pool of eight diagnosed XLCSNB (X-linked congenital stationary night blindness) patients, five showed a sequence variation in the CACNA1F and two in the NYX gene.
15634789 Our data provide unequivocal evidence that congenital stationary night blindness type 2 missense mutations can induce severe changes in Ca(v)1.4 function.
14973233 Introduction of base pair changes associated with four incomplete X-linked congenital night blindness mutations showed that only the G369D alteration affected channel activation properties. Ca(v)1.4 was found widely expressed outside the retina
12954628 L-type Ca2+ channel plays a significant role in the Ca2+ influx pathways mediating T lymphocyte activation and proliferation
12860808 These findings indicate that a mutation of the CACNA1F gene may be associated with retinal and optic disc atrophy with a progressive decline of visual function.
12853422 The biophysical and pharmacological properties of human retinal Cav1.4alpha1 using the whole-cell patch-clamp technique after heterologous expression in tsA-201 cells were compared with other L-type alpha1 subunits
12719097 A novel mutation in the CACNA1F gene adds further support to the contention that CSNB2 represents a genetically distinct retinal disorder of a calcium channel.
12552565 Novel nonsense mutation detected in exon 7 occurs after the predicted fifth transmembrane domain, deleting part of domain I and all of domains II, III,IV, the EF-hand motif and cytoplasmic C-terminus.
12111638 comprehensive mutation analyses in the 48 CACNA1F exons in 36 families, most of them from Germany

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).
22744390 2012 Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene.
22735794 2012 Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
22194652 2011 A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
22069316 2012 Alternative splicing at C terminus of Ca(V)1.4 calcium channel modulates calcium-dependent inactivation, activation potential, and current density.
21920492 2012 Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20398921 2010 Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk.
20139964 2010 Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin.
19717559 2009 Calmodulin is a functional regulator of Cav1.4 L-type Ca2+ channels.
19029287 2009 Expression and 1,4-dihydropyridine-binding properties of brain L-type calcium channel isoforms.
18206315 2008 Temperature dependence of Cav1.4 calcium channel gating.
17949918 2007 Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.
17651254 2007 Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.
17525176 2007 A novel CACNA1F gene mutation causes Aland Island eye disease.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
16960802 2006 Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
16921373 2006 C-terminal modulator controls Ca2+-dependent gating of Ca(v)1.4 L-type Ca2+ channels.
16505158 2006 X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.
16476079 2006 Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression.
16382099 2005 International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels.
16085774 2005 Cav1.4 encodes a calcium channel with low open probability and unitary conductance.
15897456 2005 A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
15807819 2005 Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.
15772651 2005 The DNA sequence of the human X chromosome.
15761389 2005 Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
15634789 2005 Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels.
15452577 2004 Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function.
14973233 2004 The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.
12954628 2003 Identification and functional characterization of voltage-dependent calcium channels in T lymphocytes.
12860808 2003 Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.
12853422 2003 Cav1.4alpha1 subunits can form slowly inactivating dihydropyridine-sensitive L-type Ca2+ channels lacking Ca2+-dependent inactivation.
12807962 2003 A new genetic locus for X linked progressive cone-rod dystrophy.
12719097 2003 A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.
12552565 2003 Mutations in the CACNA1F and NYX genes in British CSNBX families.
12187427 2002 Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).
12111638 2002 Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
11381068 2001 Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
11281458 2001 A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
10900517 2000 Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.
10873387 2000 Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.
9662400 1998 Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
9662399 1998 An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
9529339 1998 Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.
9344658 1997 Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.
8933343 1996 Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7633454 1995 Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.