INDRA statements for CACNA1F

This page allows you to curate the loaded statements. For more information please see the manual.

Statements

databases
phosphosite cbn pc11 biopax bel_lc signor biogrid lincs_drug tas hprd trrust ctd virhostnet phosphoelm drugbank omnipath | geneways tees isi trips rlimsp medscan sparser eidos reach
reading
CACNA1F affects AP1S2
| 6
CACNA1F binds AP1S2. 4 / 4
| 4
sparser
"The human diseases comprise: 1) a recessive retinal disorder, X-linked congenital stationary night blindness, associated with mutations in the CACNA1F gene, encoding alpha(1)1.4 subunits of L-type channels; and 2) a group of rare allelic autosomal dominant human neurological disorders including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6, all associated with mutations in the CACNA1A gene, encoding alpha(1)2.1 subunits of P/Q-type calcium channels."
11890456
sparser
"Incomplete congenital stationary night blindness type 2 (CSNB2) is an X-linked form of congenital stationary night blindness which is caused by mutations in the voltage-gated calcium-channel gene CACNA1F encoding Ca v 1.4 LTCCs (OMIM: 300110)."
20213496
sparser
"Pathogenic alterations of the CACNA1F gene are mostly associated with incomplete X-linked congenital stationary night blindness type 2A (CSNB2A, MIM 300071), a non-progressive retinal disorder."
24124559
sparser
"Notably, damaging alterations of the CACNA1F gene are mostly associated with incomplete X-linked congenital stationary night blindness type 2A (CSNB2A, MIM 300071), a non-progressive retinal disorder [ xref , xref , xref ]."
24124559
CACNA1F binds CAV1 and AP1S2. 1 / 1
| 1
sparser
"Mutations in the CACNA1F gene, which encodes Cav1.4 LTCC α1 subunits, have been associated with several X-linked visual disorders including Åland Island Eye Disease (AIED) xref , cone-rod dystrophy (CORDX3) xref , X-linked retinal disorder (XRD) xref , night blindness-associated transient tonic down-gaze (NATTD) xref and incomplete congenital stationary night blindness (iCSNB, CSNB2) xref ."
24796500
RPGR binds CACNA1F and AP1S2. 1 / 1
| 1
sparser
"The X-linked form of CRD is associated with mutations in RPGR (ID: 6103, OMIM:) and CACNA1F (ID: 778, OMIM:;)."
| PMC
CACNA1F affects calcium(2+)
2 | 3
CACNA1F inhibits calcium(2+).
| 1
CACNA1F inhibits calcium(2+). 1 / 1
| 1
reach
"Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina."
16155113
CACNA1F decreases the amount of calcium(2+).
| 1
CACNA1F decreases the amount of calcium(2+). 1 / 1
| 1
reach
"Differences in phenotype between this mouse and the previously described Cacna1f G305X knockout model, including an observable ERG b-wave in nob2 [XREF_BIBR, XREF_BIBR], led to the identification of an alternate Cacna1f splice variant, which results in reduced (~ 10%) expression of wild-type-like Ca V 1.4 in the nob2 retina [XREF_BIBR]."
29854783
CACNA1F activates calcium(2+).
| 1
CACNA1F activates calcium(2+). 1 / 1
| 1
reach
"CACNA1F gene encodes a multipass transmembrane protein of 1,977 amino acids which is homologous to L-type calcium channel alpha-1 subunits (the Ca v 1.4 channel) and mediates the influx of calcium ions into the cell [XREF_BIBR, XREF_BIBR]."
26075273
CACNA1F affects CABP4
1 1 | 3
CABP4 binds CACNA1F. 4 / 4
1 1 | 2
hprd
No evidence text available
15452577
sparser
"Thus, understanding the structural interaction of CaBP4 with CaV1.4 may provide insights for developing therapeutic agents for treating CSNB2."
23925854
biogrid
No evidence text available
15452577
sparser
"CaBP4 interacts structurally with the C-terminal region of CaV1.4 ( xref ) and this Ca 2+ -dependent interaction has been implicated in the modulation of voltage-dependent CaV1.4 activation ( xref )."
23925854
CABP4 binds CACNA1F and CACNA1F. 1 / 1
| 1
sparser
"Mutations in both CaV1.4 ( xref ) and CaBP4 ( xref ) have been identified in patients suffering from congenital stationary night blindness type 2 (CSNB2), indicating that defects in Ca 2+ -dependent regulation of CaV1.4 by CaBP4 are closely associated with CSNB2."
23925854
CACNA1F affects CSNB2A
| 4
CACNA1F activates CSNB2A.
| 3
CACNA1F activates CSNB2A. 3 / 3
| 3
reach
"Mutations associated with CSNB2 have been identified in two genes, CACNA1F and CABP4, which cause CSNB2A and CSNB2B, respectively [XREF_BIBR, XREF_BIBR, XREF_BIBR]."
29854783
reach
"The original discovery of Ca V 1.4 is intimately associated with the phenotypic and genotypic characterization of a family of inherited retinal disorders, congenital stationary night blindness (CSNB), a subset of which (CSNB2A) is caused by mutations in CACNA1F."
29854783
reach
"CSNB2A is caused by mutations in CACNA1F, the gene that codes for the pore forming alpha 1F subunit of the L-type voltage gated calcium channel, Ca v 1.4 [XREF_BIBR, XREF_BIBR]."
29179637
CACNA1F inhibits CSNB2A.
| 1
CACNA1F inhibits CSNB2A. 1 / 1
| 1
reach
"In contrast, there is ample evidence that the loss of CACNA1F gene function causes CSNB2A."
24124559
CACNA1F affects CSNB2
| 4
CACNA1F activates CSNB2. 3 / 3
| 3
reach
"CSNB2 is most often caused by mutations in the CACNA1F gene (MIM # 300110) [XREF_BIBR, XREF_BIBR, XREF_BIBR], which encodes the alpha1F subunit of Ca v 1.4, a retina specific voltage gated L-type calcium-channel located in the membrane of photoreceptor and bipolar cell ribbon synapses [XREF_BIBR, XREF_BIBR]."
29062221
reach
"Mutations in Cacna1f cause the CSNB2."
30445045
reach
"Congenital stationary night blindness 2 caused by mutations in CABP4 merely shows cone related problems and therefore appears to be distinct from CSNB2 caused by mutations in CACNA1F."
23714322
Mutated CACNA1F activates CSNB2. 1 / 1
| 1
reach
"However, there are a few reports of atypical cases of vision loss progressing alongside the appearance of retinal and optic disc atrophy in patients with CSNB2 caused by CACNAF1 mutations [XREF_BIBR, XREF_BIBR]."
28512427
CsnB affects CACNA1F
| 2
CACNA1F binds csnB. 1 / 1
| 1
sparser
"Today, autosomal dominant CSNB (adCSNB) is only associated with Riggs phenotype driven by RHO (OMIM: 180380; Dryja, Berson, Rao, & Oprian, xref ), GNAT1 (OMIM: 139330; Dryja, Hahn, Reboul, & Arnaud, xref ), or PDE6B (OMIM: 180072; Gal, Orth, Baehr, Schwinger, & Rosenberg, xref ); X‐linked CSNB (xlCSNB) is associated with NYX (OMIM: 300278; Bech‐Hansen et al., xref ; Pusch et al., xref ) and CACNA1F (OMIM: 300110; Bech‐Hansen et al., xref ; Strom et al., xref ); autosomal recessive CSNB (arCSNB) could be complete, incomplete or Riggs‐type, which may be caused by GRM6 (OMIM: 604096; Dryja et al., xref ; Zeitz et al., xref ), TRPM1 (OMIM: 603576; Audo et al., xref ; Li et al., xref ; van Genderen et al., xref ), GPR179 (OMIM: 614515; Audo et al., xref ; Peachey et al., xref ), LRIT3 (OMIM: 615004; Zeitz et al., xref ), CABP4 (OMIM: 608965; Zeitz et al., xref ), CACNA2D4 (OMIM: 608171; Wycisk, Budde, et al., xref ; Wycisk, Zeitz, et al., xref ), SLC24A1 (OMIM: 603617)(Riazuddin et al., xref ), or GNAT1 (OMIM: 139330)(Naeem et al., xref )."
31677249
CACNA1F binds CACNA1F, CACNA1F, and csnB. 1 / 1
| 1
sparser
"While the mutation in CACNA1F gene is mostly associated with the pathogenic alterations of CSNB, CORDX3, and AIED, the phenotype observed in this study is most precisely described as RP-like."
26075273
PAEP affects CACNA1F
| 2
CACNA1F binds PAEP. 2 / 2
| 2
sparser
"In 2013, Xiong et al. [ xref ] produced Rubik-like magnetic nanoassemblies (MNAs) composed of four oleic acid-capped iron oxide nanocubes (Fe 3 O 4 @OA NCs) with a shell of dioleate-modified polyethylene glycol (OA2-PEG) ( xref A,B)."
32244817
sparser
"In 2013, Xiong et al. [ xref ] produced Rubik-like magnetic nanoassemblies (MNAs) composed of four oleic acid-capped iron oxide nanocubes (Fe 3 O 4 @OA NCs) with a shell of dioleate-modified polyethylene glycol (OA2-PEG) ( xref A,B)."
32244817
CACNA1F affects csnB
| 2
CACNA1F binds csnB. 1 / 1
| 1
sparser
"Today, autosomal dominant CSNB (adCSNB) is only associated with Riggs phenotype driven by RHO (OMIM: 180380; Dryja, Berson, Rao, & Oprian, xref ), GNAT1 (OMIM: 139330; Dryja, Hahn, Reboul, & Arnaud, xref ), or PDE6B (OMIM: 180072; Gal, Orth, Baehr, Schwinger, & Rosenberg, xref ); X‐linked CSNB (xlCSNB) is associated with NYX (OMIM: 300278; Bech‐Hansen et al., xref ; Pusch et al., xref ) and CACNA1F (OMIM: 300110; Bech‐Hansen et al., xref ; Strom et al., xref ); autosomal recessive CSNB (arCSNB) could be complete, incomplete or Riggs‐type, which may be caused by GRM6 (OMIM: 604096; Dryja et al., xref ; Zeitz et al., xref ), TRPM1 (OMIM: 603576; Audo et al., xref ; Li et al., xref ; van Genderen et al., xref ), GPR179 (OMIM: 614515; Audo et al., xref ; Peachey et al., xref ), LRIT3 (OMIM: 615004; Zeitz et al., xref ), CABP4 (OMIM: 608965; Zeitz et al., xref ), CACNA2D4 (OMIM: 608171; Wycisk, Budde, et al., xref ; Wycisk, Zeitz, et al., xref ), SLC24A1 (OMIM: 603617)(Riazuddin et al., xref ), or GNAT1 (OMIM: 139330)(Naeem et al., xref )."
31677249
CACNA1F binds CACNA1F, CACNA1F, and csnB. 1 / 1
| 1
sparser
"While the mutation in CACNA1F gene is mostly associated with the pathogenic alterations of CSNB, CORDX3, and AIED, the phenotype observed in this study is most precisely described as RP-like."
26075273
CACNA1F affects PAEP
| 2
CACNA1F binds PAEP. 2 / 2
| 2
sparser
"In 2013, Xiong et al. [ xref ] produced Rubik-like magnetic nanoassemblies (MNAs) composed of four oleic acid-capped iron oxide nanocubes (Fe 3 O 4 @OA NCs) with a shell of dioleate-modified polyethylene glycol (OA2-PEG) ( xref A,B)."
32244817
sparser
"In 2013, Xiong et al. [ xref ] produced Rubik-like magnetic nanoassemblies (MNAs) composed of four oleic acid-capped iron oxide nanocubes (Fe 3 O 4 @OA NCs) with a shell of dioleate-modified polyethylene glycol (OA2-PEG) ( xref A,B)."
32244817
CACNA1F affects ERG
| 2
CACNA1F inhibits ERG. 1 / 1
| 1
reach
"Mutations in CACNA1F, which encodes the Ca (v) 1.4 subunit of a voltage gated L-type calcium channel, cause X linked incomplete congenital stationary night blindness (CSNB2), a condition of defective retinal neurotransmission which results in night blindness, reduced visual acuity, and diminished ERG b-wave."
20238058
Mutated CACNA1F inhibits ERG. 1 / 1
| 1
reach
"As previously reported in Cacna1f nob2 mice, CACNA1F mutations in humans cause ERG b-wave reductions under both dark adapted (scotopic) and light adapted (photopic) conditions."
18596967
Cytokine affects CACNA1F
| 1
CACNA1F binds cytokine. 1 / 1
| 1
sparser
"AIED may be associated with the release of proinflamatory cytokines, such as tumor necrosis factor alpha (TNFα) [ xref , xref ], and Interleukin-1 beta (IL-1β) [ xref ]."
23912888
TET2 affects CACNA1F
| 1
TET2 inhibits CACNA1F. 1 / 1
| 1
reach
"Overexpression of miR-544 inhibits the activity of the YY1 and PRC2 complex and promotes the transcription and expression of the ten-eleven translocation 2 (TET2) gene, thereby activating the key factors of the serotonergic synapse pathway, CACNA1F, and CYP2D6."
32127022
RP affects CACNA1F
| 1
CACNA1F binds RP. 1 / 1
| 1
sparser
"The association of CACNA1F mutations with RP in these two patients is uncertain, although the phenotype in the patients is consistent with RP, and mutations in CACNA1F are predicted to be null."
25999675
RENBP affects CACNA1F
| 1
RENBP inhibits CACNA1F. 1 / 1
| 1
reach
"Age dependent Reduction of CACNA1F Immunoreactivity in Mutant Photoreceptors."
24466230
PRRC2A affects CACNA1F
| 1
PRRC2A binds CACNA1F. 1 / 1
| 1
sparser
"The m-OA2-G2 complexes formed fibrillar structures similar to those observed in the bola-C18-G1 images, potentially due to increased hydrophobic interactions from the additional oleate tail enhancing the stability of assembly ()."
26436138
PLD affects CACNA1F
| 1
CACNA1F binds PLD. 1 / 1
| 1
sparser
"Interestingly, for unknown reasons, the association of PLD with JM8 drastically reduced the rate of hypersensitivity reactions compared to JM8 alone (9% vs 0%, P = 0.0008)."
20957139
ISRADIPINE affects CACNA1F
| 1
ISRADIPINE inhibits CACNA1F. 1 / 1
| 1
trips
"The dihydropyridine (DHP)-antagonist isradipine blocked Cav1.4alpha1 with approximately 15-fold lower sensitivity than Cav1.2alpha1 and in a voltage-dependent manner."
12853422
IL1 affects CACNA1F
| 1
IL1 binds CACNA1F. 1 / 1
| 1
sparser
"Also, it seems that cytokines play a significant role in pathogenesis of disease and response of treatment, as TNF expression has correlated with steroid-sensitive AIED [ xref ] and expression of interleukin-1 has associated with steroid resistant AIED [ xref ]."
29977417
EAF2 affects CACNA1F
| 1
EAF2 activates CACNA1F. 1 / 1
| 1
reach
"Congenital stationary night blindness (CSNB) is a heterogeneous group of retinal dysfunction caused by autosomal traits (13 recessively inherited genes, 3 dominantly inherited genes) and X linked traits (NYX and CACNA1F) [XREF_BIBR]."
30186847
CACNA1F affects iCSNB
| 1
CACNA1F activates iCSNB. 1 / 1
| 1
reach
"The NYX gene mutation gives rise to cCSNB (CSNB1), whereas the CACNA1F gene mutation leads to iCSNB (CSNB2) [XREF_BIBR - XREF_BIBR]."
24555124
CACNA1F affects exocytosis
| 1
Mutated CACNA1F activates exocytosis. 1 / 1
| 1
reach
"In vivo, Cacna1f mutations cause night blindness in mice and humans by compromising Ca 2+ -dependent exocytosis in terminals of rod and cone photoreceptors."
22183401
CACNA1F affects cytokine
| 1
CACNA1F binds cytokine. 1 / 1
| 1
sparser
"AIED may be associated with the release of proinflamatory cytokines, such as tumor necrosis factor alpha (TNFα) [ xref , xref ], and Interleukin-1 beta (IL-1β) [ xref ]."
23912888
CACNA1F affects cellular component organization
| 1
CACNA1F inhibits cellular component organization. 1 / 1
| 1
reach
"Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina."
16155113
CACNA1F affects calcium-binding, and protein 4
| 1
CACNA1F binds CACNA1F, protein 4, and calcium-binding. 1 / 1
| 1
sparser
"Our observation that CSNB2 patients had thinner inner and outer retinas compared with myopic controls suggests that there may be structural differences in CSNB2 eyes that are associated with mutations in the CACNA1F or calcium-binding protein 4 genes."
21920492
CACNA1F affects b-wave
| 1
Mutated CACNA1F inhibits b-wave. 1 / 1
| 1
reach
"As previously reported in Cacna1f nob2 mice, CACNA1F mutations in humans cause ERG b-wave reductions under both dark adapted (scotopic) and light adapted (photopic) conditions."
18596967
CACNA1F affects XLRP
| 1
CACNA1F activates XLRP. 1 / 1
| 1
reach
"In our study, we have applied NGS to find CACNA1F gene mutation causing XLRP in a Chinese family."
26075273
CACNA1F affects RP
| 1
CACNA1F binds RP. 1 / 1
| 1
sparser
"The association of CACNA1F mutations with RP in these two patients is uncertain, although the phenotype in the patients is consistent with RP, and mutations in CACNA1F are predicted to be null."
25999675
CACNA1F affects PRRC2A
| 1
PRRC2A binds CACNA1F. 1 / 1
| 1
sparser
"The m-OA2-G2 complexes formed fibrillar structures similar to those observed in the bola-C18-G1 images, potentially due to increased hydrophobic interactions from the additional oleate tail enhancing the stability of assembly ()."
26436138
CACNA1F affects PLD
| 1
CACNA1F binds PLD. 1 / 1
| 1
sparser
"Interestingly, for unknown reasons, the association of PLD with JM8 drastically reduced the rate of hypersensitivity reactions compared to JM8 alone (9% vs 0%, P = 0.0008)."
20957139
CACNA1F affects IL1
| 1
IL1 binds CACNA1F. 1 / 1
| 1
sparser
"Also, it seems that cytokines play a significant role in pathogenesis of disease and response of treatment, as TNF expression has correlated with steroid-sensitive AIED [ xref ] and expression of interleukin-1 has associated with steroid resistant AIED [ xref ]."
29977417
CACNA1F affects CSNB2B
| 1
CACNA1F activates CSNB2B. 1 / 1
| 1
reach
"Mutations associated with CSNB2 have been identified in two genes, CACNA1F and CABP4, which cause CSNB2A and CSNB2B, respectively [XREF_BIBR, XREF_BIBR, XREF_BIBR]."
29854783
CACNA1F affects CSNB2A phenotypes
| 1
CACNA1F activates CSNB2A phenotypes. 1 / 1
| 1
reach
"This report of a missense mutation in CACNA1F causing AIED and CSNB2A phenotypes in a family confirms that both diseases are allelic and that other genetic or environmental modifiers influence the expression of CACNA1F."
22194652
CACNA1F affects CORDX3 [
| 1
CACNA1F activates CORDX3 [. 1 / 1
| 1
reach
"However, the interval located on Xp11.3-p11.23 contains the CACNA1F gene shown to cause CORDX3 [XREF_BIBR]."
24124559
CACNA1F affects CAPN
| 1
CACNA1F activates CAPN. 1 / 1
| 1
reach
"However, knockout of Cacna1f prevented excess activation of calpain commonly seen in degenerating photoreceptors (3), highlighting the dependence of this phenomenon on synaptic VGCCs."
27270916
CACNA1F affects AIED
| 1
CACNA1F activates AIED. 1 / 1
| 1
reach
"The present study clearly indicates that AIED is also caused by a novel CACNA1F gene mutation."
17525176
AP1S2 affects CACNA1F, and RPGR
| 1
RPGR binds CACNA1F and AP1S2. 1 / 1
| 1
sparser
"The X-linked form of CRD is associated with mutations in RPGR (ID: 6103, OMIM:) and CACNA1F (ID: 778, OMIM:;)."
| PMC
AP1S2 affects CACNA1F, and CAV1
| 1
CACNA1F binds CAV1 and AP1S2. 1 / 1
| 1
sparser
"Mutations in the CACNA1F gene, which encodes Cav1.4 LTCC α1 subunits, have been associated with several X-linked visual disorders including Åland Island Eye Disease (AIED) xref , cone-rod dystrophy (CORDX3) xref , X-linked retinal disorder (XRD) xref , night blindness-associated transient tonic down-gaze (NATTD) xref and incomplete congenital stationary night blindness (iCSNB, CSNB2) xref ."
24796500
CACNA1F affects calcium(2+), and calcium(2+)
|
CACNA1F catalyzes the conversion of calcium(2+) into calcium(2+). 1 / 1
1 |
biopax:panther
No evidence text available