INDRA statements for SCN4A

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SCN4A affects sodium(1+)
1 | 13
SCN4A activates sodium(1+).
| 10
SCN4A activates sodium(1+). 5 / 5
| 5
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"Together, these results suggest cellular SkM1 delivery should efficiently restore the pool of available sodium channels; in a fashion superior to cellular SCN5A delivery and to natively-available Na-channels."
22722661
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"A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia."
27858731
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"Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal excitability, and can present as episodes of skeletal muscle weakness, paralysis, and myotonia."
24082935
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"Subsequently, the first identification of mutations in a human channelopathy were established for hyperkalemic periodic paralysis caused by missense substitutions of SCN4A, encoding the alpha subunit of the muscle specific sodium channel Na V 1.4."
25880512
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"10 It has been proposed that mutations in SCN4A cause an increase in sodium persistent inward current, resulting in muscle depolarization and weakness in individuals with PMC."
30390395
Mutated SCN4A activates sodium(1+). 4 / 4
| 4
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"Nondystrophic myotonias (NDM) are usually divided in two groups : myotonia congenita (MC) (MIM 160800; 255700) caused by mutations of the CLCN1 gene and paramyotonia congenita (PMC) (MIM168300) or sodium channel myotonia (SCM) (MIM 608390) caused by mutations of the SCN4A [1-5]."
25088311
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"Nondystrophic myotonias (NDM) are usually divided in two groups : myotonia congenita (MC) (MIM 160800; 255700) caused by mutations of the CLCN1 gene and paramyotonia congenita (PMC) (MIM168300) or sodium channel myotonia (SCM) (MIM 608390) caused by mutations of the SCN4A [1-5]."
25088311
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"More specifically the most prominent effects caused by P72L mutation were a hyperpolarized shift of the voltage dependence of activation, a slower recovery of fast inactivation, a slower kinetic of entry in the slow inactivation, and a destabilized steady state of the slow inactivation.The shift of the voltage dependence of activation increases excitability of the cell decreasing the threshold for action potential and has been reported in previous SCN4A mutations causing hyperkaliemic periodic paralysis or sodium channel myotonia [16,17]."
25660391
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"Consequently, mutations of SCN4A encoding Na V 1.4 produce pure skeletal muscle phenotypes that now include six allelic disorders : sodium channel myotonia, paramyotonia congenita, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, congenital myasthenia, and congenital myopathy with hypotonia."
28939973
SCN4A-R675Q activates sodium(1+). 1 / 1
| 1
reach
"The R675Q mutation of the SCN4A gene enhances the activation and inactivation of the sodium channel, and the S4 transmembrane segment may have intimate relationship with the attack of weakness in normoKPP patients."
19065518
SCN4A inhibits sodium(1+).
| 3
SCN4A inhibits sodium(1+). 3 / 3
| 3
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"The mutation R1448C of gene SCN4A slows down the inactivation rate of the skeletal muscle sodium channel and invalidates rapid recovery from inactivation XREF_BIBR."
26484179
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"Our data suggest that the presence of an SCN4A gene variant that impairs sodium channel function exacerbates an infant 's vulnerability."
29605429
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"Lower levels of SCN1A, SCN2A, SCN3A, SCN4A and SCN8A expression have also been reported in heart and shown to contribute approximately 23% of the total functional sodium channels in mouse ventricular myocytes and 27% in human atrial myocytes, based on TTX sensitivity."
27702655
SCN4A increases the amount of sodium(1+).
1 |
SCN4A increases the amount of sodium(1+). 1 / 1
1 |
signor
"Voltage-gated Na1 channels (NaV channels) drive the rapid upstroke of action potentials in cardiac and skeletal muscle and in most neurons, thereby serving as initiators of electrical activity in excitable tissue. Nine genes encode a family of homologous of NaV channel pore-forming a subunits. While channels are open, Na1 ions flux through the central pore down an electrochemical gradient, further depolarizing the membrane and triggering an action potential."
27262167
Tetrodotoxin affects SCN4A
| 6
Tetrodotoxin inhibits SCN4A. 6 / 6
| 6
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"With isoproterenol 0.1 muM superfusion maintained, we added tetrodotoxin 0.1 muM, which selectively blocks SkM1 current (7)."
23395072
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"Tetrodotoxin significantly slowed the HCN2 and SkM1 -injected preparations, bringing their beating rates into the same range as the HCN2 -injected preparations."
23395072
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"Classically, nanomolar concentration of tetrodotoxin (TTX) blocks SkM1 channels whereas inhibition of SkM2 channels requires TTX concentration in the micromolar range."
9733912
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"SkM1 current should be reduced by 100 nM TTX, while that of native SCN5A channels should be minimally affected."
19103989
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"Classically, nanomolar concentration of tetrodotoxin (TTX) blocks SkM1 channels whereas inhibition of SkM2 channels requires TTX concentration in the micromolar range."
9733912
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"With isoproterenol 0.1 muM superfusion maintained, we added tetrodotoxin 0.1 muM, which selectively blocks SkM1 current."
23395072
SCN4A affects PMC
| 4
SCN4A activates PMC. 4 / 4
| 4
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"To date, 18 missense mutations in the adult skeletal muscle sodium channel alpha-subunit (SCN4A) gene have been identified to cause a spectrum of muscular diseases, including PMC of von Eulenburg, PMC without cold paralysis, potassium aggravating myotonia, and hyperkalemic periodic paralysis."
10369308
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"PMC is caused by a mutation in SCN4A which encodes the alpha-subunit of the skeletal muscle sodium channel."
22507243
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"Both dominant and recessive forms of myotonia congenita are caused by mutations in the CLCN1 gene XREF_BIBR whilst both PMC and SCM are caused by mutations in the SCN4A gene XREF_BIBR."
23810313
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"In addition, one member of the second family with overlapping symptoms has been identified as a novel mutation c. 2111C> T without the mutation c. 4343G> A. Conclusions SCN4A gene mutations can cause the overlap of PMC and PP (especially the HypoPP2)."
30931713
SCN4A affects sodium atom
| 3
SCN4A activates sodium atom. 3 / 3
| 3
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"Because of the higher frequency of attacks in SPP patients with mutations compared with SPP patients without mutation, we hypothesize that the mutations in CACNA1S and SCN4A increase the susceptibility to paralysis.Mutations in CACNA1S and SCN4A create an aberrant gating pore current, which predisposes the membrane to depolarization during hypokalemia and consequently inactivates the Na + channel."
21841462
reach
"Subsequently, the first identification of mutations in a human channelopathy were established for hyperkalemic periodic paralysis caused by missense substitutions of SCN4A, encoding the alpha subunit of the muscle specific sodium channel Na V 1.4."
25880512
reach
"Familial forms of hypoPP are caused by SCN4A (20%) and CACNA1S (60%) mutations of positively charged residues in the channel voltage sensor that create an aberrant permeation pathway for H + or Na + ions, resulting in depolarizing cation leak currents named gating pore currents."
27242528
SCN4A affects HTT
| 2 1
SCN4A binds HTT.
| 2
SCN4A binds HTT. 2 / 2
| 2
sparser
"To evaluate if the genetic interaction between the mutated forms of huntingtin and Scn4a could enhance HD pathology in the brain, we measured soluble mutant huntingtin and huntingtin intranuclear inclusions at piriform cortex and cerebellum ( xref , Fig. S2D and E), finding no differences between genotypes."
29509900
sparser
"The interaction of Scn4a and HD mutations leads to higher energy demands that trigger adaptation changes in skeletal muscles."
29509900
SCN4A activates HTT.
| 1
SCN4A activates HTT. 1 / 1
| 1
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"Mutations in Scn4a enhance HD disease progression and weight loss by accelerating muscle waste and cachexia, increasing skeletal muscle activity and energy demands."
30397387
SCN4A affects Ala-Pro
| 3
SCN4A activates Ala-Pro. 3 / 3
| 3
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"Epicardial mapping, programmed electrical stimulation, and microelectrode recordings demonstrated that overexpression of the SkM1 channel increased V max of the AP, improved conduction velocity, and suppressed VT inducibility when compared to control animals."
26615948
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"Consequently, in our two cell delivery model, expression of SkM1, but not SCN5A enhanced the dV/dt max of the AP upstroke in myocytes which were electrically coupled with HEK293 cells transfected with either of these Na + channel genes."
22526298
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"After demonstrating that SkM1 increases the AP upstroke, we then tested the effect of SkM1 on conduction velocity."
22526298
FOXH1 affects SCN4A
| 3
FOXH1 inhibits SCN4A. 3 / 3
| 3
sparser
"The time constants for recovery of fast inactivating components of the SkM1 α subunit measured by the cut-open recording technique ( Fig. 5 B ) were compared to those measured for fast inactivating currents seen in the presence of β 1 subunit ( Fig. 5 D ) and after macropatch conversion of α subunit ( Fig. 5 C )."
10512815
sparser
"We also studied the rates of fast inactivation of SkM1 and SCN5A. We took the falling phase (starting from around 2/3 of the maximal current to full inactivation, xref ) of Na + current measured in the activation experiment, and then fit the data with an exponential function to get a time constant (τ) of inactivation at each membrane potential ( xref )."
22526298
sparser
"The “faster” fast inactivation of SkM1 may provide another benefit to prevent long QT syndrome3 by preventing late sodium current."
22526298
Sodium(1+) affects SCN4A
| 2
Sodium(1+) activates SCN4A. 2 / 2
| 2
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"Patients homozygous for sodium channel mutations causing paramyotonia congenita (SCN4A, Ile1393Thr), hypokalemic periodic paralysis (SCN4A, Arg1132Gln) and myotonia congenita (CLCN1, Gly190Ser, Ile556Asn, Ala313Thr, Ile556Asn) display much more severe clinical features than patients heterozygous for these mutations."
23820649
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"Mexiletine, a sodium channel blocker, targets the primary defect in sodium channelopathies (excessive activation of the sodium channel SCN4A channel protein) 10 but targets more downstream cell pathophysiology in the chloride channel, adding cellular heterogeneity to the genetic and allelic heterogeneity."
23032555
Pyraclofos affects SCN4A
| 2
Pyraclofos activates SCN4A. 2 / 2
| 2
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"We first measured the voltage dependent activation of SkM1 and SCN5A current in GFP positive cells (XREF_FIG)."
22526298
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"To study voltage dependent activation of SkM1 and SCN5A currents in GFP positive cMSC (n = 8/group), cells were held at -100 mV to prevent inactivation, and then pulsed to test potentials from -80 to +40 mV, with 5 mV increments (XREF_FIG)."
22722661
BetA1 affects SCN4A
| 2
BetA1 binds SCN4A.
| 1
SCN4A binds betA1. 1 / 1
| 1
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"In oocytes, beta 1 interacts functionally with SkM1 to modulate the abnormally slow inactivation kinetics observed with this alpha subunit expressed alone."
8240813
BetA1 activates SCN4A.
| 1
BetA1 activates SCN4A. 1 / 1
| 1
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"Coexpression of beta 1 accelerates the macroscopic kinetics of inactivation of adult rat brain IIA, embryonic rat brain III, and rat skeletal muscle SkM1 sodium channel alpha subunits."
8021275
TNF affects SCN4A
2 |
TNF increases the amount of SCN4A.
1 |
Transcriptionally active TNF increases the amount of SCN4A. 1 / 1
1 |
signor
"TNF-α increases Na(+) currents by accelerating the channel activation as well as increasing the expression of VGSCs in a mechanism dependent upon NF-κB and p38 MAPK signal pathways in CNS neurons. TNF-α increased Na(+) currents by accelerating the activation of VGSCs. VGSCs were up-regulated at both the mRNA and protein levels."
26112872
TNF activates SCN4A.
1 |
TNF activates SCN4A. 1 / 1
1 |
signor
"TNF-α increases Na(+) currents by accelerating the channel activation as well as increasing the expression of VGSCs in a mechanism dependent upon NF-κB and p38 MAPK signal pathways in CNS neurons. TNF-α increased Na(+) currents by accelerating the activation of VGSCs. The threshold for action potential (AP) was decreased and firing rate were increased. VGSCs were up-regulated at both the mRNA and protein levels."
26112872
SNTA1 affects SCN4A
1 1 |
SCN4A binds SNTA1. 2 / 2
1 1 |
biogrid
No evidence text available
15123239
hprd
No evidence text available
9412493
SCN4A affects tetrodotoxin
| 2
SCN4A inhibits tetrodotoxin.
| 1
SCN4A inhibits tetrodotoxin. 1 / 1
| 1
reach
"Na channel subunits alphaSNS (PN3) and alpha mu1 (SkM1) produce slowly inactivating and TTX resistant and rapidly inactivating and TTX sensitive currents, respectively."
9369222
SCN4A activates tetrodotoxin.
| 1
SCN4A activates tetrodotoxin. 1 / 1
| 1
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"Na channel subunits alphaSNS (PN3) and alpha mu1 (SkM1) produce slowly inactivating and TTX resistant and rapidly inactivating and TTX sensitive currents, respectively."
9369222
SCN4A affects base
| 2
SCN4A inhibits base. 1 / 1
| 1
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"Taken together, these results suggest that the SCN4A intron 21 TATCA> G mutation disrupts optimal base pairing to both U1 and U6 snRNAs."
21412952
Mutated SCN4A inhibits base. 1 / 1
| 1
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"The SCN4A mutation disrupts base pairing to U1 and U6 snRNAs."
21412952
SCN4A affects SNTA1
1 1 |
SCN4A binds SNTA1. 2 / 2
1 1 |
biogrid
No evidence text available
15123239
hprd
No evidence text available
9412493
SCN4A affects SEPTIN7
| 1 1
SCN4A phosphorylates SEPTIN7. 2 / 2
| 1 1
sparser
"However, Ste20 and Skm1 phosphorylate Cdc10 in immune complex kinase assays, but much less efficiently than Cla4 (unpublished data)."
14993234
reach
"However, Ste20 and Skm1 phosphorylate Cdc10 in immune complex kinase assays, but much less efficiently than Cla4 (unpublished data)."
14993234
SCN4A affects PPY
| 2
SCN4A activates PPY. 2 / 2
| 2
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"XREF_BIBR XREF_BIBR XREF_BIBR Hyper PP is caused by mutations in the sodium channel gene SCN4A."
26558925
reach
"In addition, one member of the second family with overlapping symptoms has been identified as a novel mutation c. 2111C> T without the mutation c. 4343G> A. Conclusions SCN4A gene mutations can cause the overlap of PMC and PP (especially the HypoPP2)."
30931713
SCN4A affects HypoPP
| 2
SCN4A activates HypoPP. 1 / 1
| 1
reach
"HypoPP is caused by mutations in CACNA1S, which encodes the alpha-subunit of the calcium channel Ca v 1.1, and SCN4A, which encodes the alpha-subunit of sodium channel Na v 1.4."
26433613
Mutated SCN4A activates HypoPP. 1 / 1
| 1
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"Those with HypoPP caused by an SCN4A mutation are less responsive to carbonic anhydrase inhibitors or may even experience worsening of symptoms."
29125635
SCN4A affects CNBP
| 2
Mutated SCN4A activates CNBP. 2 / 2
| 2
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"The additive effects of CLCN1 missplicing and CLCN1 or SCN4A mutation cause an atypical DM2 phenotype characterized by severe and early myotonia XREF_BIBR - XREF_BIBR."
30038349
reach
"These observations suggest that CLCN1 or SCN4A mutations may contribute to exaggerate the DM2 phenotype in these patients who could be more easily identified and diagnosed than DM2 patients without the modifier gene."
27858759
NEDD4L affects SCN4A
2 |
NEDD4L ubiquitinates SCN4A.
1 |
NEDD4L ubiquitinates SCN4A. 1 / 1
1 |
signor
"The control of Nav density at the cell membrane is crucial to ensuring normal neuronal excitability. Navs are subject to posttranslational modifications that may influence their cell membrane availability. Ubiquitylation is a key process that orchestrates the internalization and subsequent degradation or recycling of Navs. This is accomplished by ubiquitin protein ligases, such as NEDD4-2 (neuronal precursor cell expressed developmentally downregulated-4 type 2)."
23778145
NEDD4L decreases the amount of SCN4A.
1 |
NEDD4L decreases the amount of SCN4A. 1 / 1
1 |
signor
"The control of Nav density at the cell membrane is crucial to ensuring normal neuronal excitability. Navs are subject to posttranslational modifications that may influence their cell membrane availability. Ubiquitylation is a key process that orchestrates the internalization and subsequent degradation or recycling of Navs. This is accomplished by ubiquitin protein ligases, such as NEDD4-2 (neuronal precursor cell expressed developmentally downregulated-4 type 2)."
23778145
HTT affects SCN4A
| 2
SCN4A binds HTT. 2 / 2
| 2
sparser
"To evaluate if the genetic interaction between the mutated forms of huntingtin and Scn4a could enhance HD pathology in the brain, we measured soluble mutant huntingtin and huntingtin intranuclear inclusions at piriform cortex and cerebellum ( xref , Fig. S2D and E), finding no differences between genotypes."
29509900
sparser
"The interaction of Scn4a and HD mutations leads to higher energy demands that trigger adaptation changes in skeletal muscles."
29509900
FGF14 affects SCN4A
2 |
FGF14 inhibits SCN4A.
1 |
FGF14 inhibits SCN4A. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
FGF14 binds SCN4A.
1 |
SCN4A binds FGF14. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
FGF13 affects SCN4A
2 |
FGF13 inhibits SCN4A.
1 |
FGF13 inhibits SCN4A. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
FGF13 binds SCN4A.
1 |
SCN4A binds FGF13. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
FGF12 affects SCN4A
2 |
FGF12 inhibits SCN4A.
1 |
FGF12 inhibits SCN4A. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
FGF12 binds SCN4A.
1 |
SCN4A binds FGF12. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
FGF11 affects SCN4A
2 |
FGF11 inhibits SCN4A.
1 |
FGF11 inhibits SCN4A. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
FGF11 binds SCN4A.
1 |
SCN4A binds FGF11. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
Rigosertib affects SCN4A
| 1
Rigosertib activates SCN4A. 1 / 1
| 1
reach
"Two up-regulated RTKs (RET and PDGFR-beta) and two down-regulated RTKs (Tie2 and VEGFR2) were shared as rigosertib targeted RTKs in the MDS-L and SKM1 cell lines."
25472472
Mu-CTX affects SCN4A
| 1
Mu-CTX inhibits SCN4A. 1 / 1
| 1
reach
"Only rat and human SkM1 and eel electroplax VGSCs are suppressed by mu-CTX, being blocked by nM concentrations [32]."
9613589
Hsa-miR-4789-5p affects SCN4A
1 |
Transcriptionally active hsa-miR-4789-5p decreases the amount of SCN4A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
23824327
Hsa-miR-3941 affects SCN4A
1 |
Transcriptionally active hsa-miR-3941 decreases the amount of SCN4A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
23824327
Hsa-miR-362-3p affects SCN4A
1 |
Transcriptionally active hsa-miR-362-3p decreases the amount of SCN4A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
23824327
Hsa-miR-335-5p affects SCN4A
1 |
Transcriptionally active hsa-miR-335-5p decreases the amount of SCN4A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
18185580
Hsa-miR-329-3p affects SCN4A
1 |
Transcriptionally active hsa-miR-329-3p decreases the amount of SCN4A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
23824327
Hsa-miR-1284 affects SCN4A
1 |
Transcriptionally active hsa-miR-1284 decreases the amount of SCN4A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
23824327
Flecainide affects SCN4A
| 1
Flecainide activates mutated SCN4A. 1 / 1
| 1
reach
"In a recent report, a p.G1306E mutation of SCN4A gene caused NDM and Brugada syndrome after treated with flecainide."
32276507
Cyclosporin A affects SCN4A
| 1
Cyclosporin A inhibits SCN4A. 1 / 1
| 1
reach
"Furthermore, CsA prevented the down-regulation of Scn4a and Cacna1s induced by voluntary running since no difference was found between Mdx+ wheel+ CsA mice and Mdx+ CsA mice."
30142334
ZNF333 affects SCN4A
| 1
SCN4A binds ZNF333. 1 / 1
| 1
sparser
"Conversely, none of the top-ranked rare variants in EAs had a MAC≥10 in the CH group, except for the variants in ZNF333 (MAC=26) and SCN4A (MAC=19) which were not associated with AD risk in the CH dataset (p>0.20) ( xref )."
30503768
TP53 affects SCN4A
| 1
TP53 activates SCN4A. 1 / 1
| 1
reach
"Upregulated gene sets include p53 signaling in K562 and SKM1 cells, and several gene sets associated with regulation of transcription, spliceosome and splicing in K562 cells (XREF_SUPPLEMENTARY)."
25428262
TA affects SCN4A
| 1
SCN4A binds TA. 1 / 1
| 1
sparser
"These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica."
19077043
SNTB2 affects SCN4A
1 |
SCN4A binds SNTB2. 1 / 1
1 |
hprd
No evidence text available
9412493
SNTB1 affects SCN4A
1 |
SCN4A binds SNTB1. 1 / 1
1 |
hprd
No evidence text available
9412493
SLC9A3R1 affects SCN4A
1 |
SCN4A binds SLC9A3R1. 1 / 1
1 |
biogrid
No evidence text available
9677412
SLC13A4 affects SCN4A
| 1
SCN4A binds SLC13A4. 1 / 1
| 1
reach
"Here, we show that Ste20, Cla4, and Skm1 form a complex with Sut1, a transcriptional regulator that promotes sterol uptake."
19793923
SCN4A affects pyraclofos
| 1
SCN4A activates pyraclofos. 1 / 1
| 1
reach
"Hyperkalemic periodic paralysis (HyperPP) is a dominantly inherited muscle disease caused by mutations in SCN4A gene encoding skeletal muscle voltage gated Na v 1.4 channels."
27714768
SCN4A affects potassium(1+)
| 1
Mutated SCN4A activates potassium(1+). 1 / 1
| 1
reach
"New mutations of SCN4A cause a potassium sensitive normokalemic periodic paralysis."
15596759
SCN4A affects phenotype
| 1
Mutated SCN4A activates phenotype. 1 / 1
| 1
reach
"This phenotype, also named NormoPP, is caused by SCN4A mutations at deeper locations of the voltage sensor of domain II at codon 675."
20237798
SCN4A affects normoKPP
| 1
SCN4A activates normoKPP. 1 / 1
| 1
reach
"HyperKPP and normoKPP are caused by mutations of the same gene SCN4A, the gene encoding the skeletal muscle voltage gated sodium channel."
29907477
SCN4A affects metabolic process
| 1
Mutated SCN4A activates metabolic process. 1 / 1
| 1
reach
"In-depth characterization of draggen mice, a novel mouse model of myotonia and periodic paralysis, found alterations in whole animal metabolism caused by Scn4a mutations accompanied by inappropriate AMPK activation in mice."
25348630
SCN4A affects hypoPP
| 1
SCN4A inhibits hypoPP. 1 / 1
| 1
reach
"Familial hypoPP is caused by loss-of-function mutations in at least two different genes : CACNL1A3 and SCN4A encoding for the alpha1 subunits of the skeletal muscle L-type Ca 2+ channel and voltage dependent Na + channels, respectively [15,16]."
17825556
SCN4A affects hypoKPP
| 1
SCN4A activates hypoKPP. 1 / 1
| 1
reach
"CACNA1S, SCN4A or KCNJ2 variants can cause hypoKPP."
31483760
SCN4A affects betA1
| 1
SCN4A binds betA1. 1 / 1
| 1
reach
"In oocytes, beta 1 interacts functionally with SkM1 to modulate the abnormally slow inactivation kinetics observed with this alpha subunit expressed alone."
8240813
SCN4A affects autophagy
| 1
SCN4A activates autophagy. 1 / 1
| 1
reach
"Azacitidine resistant SKM1 myeloid cells are defective for AZA induced mitochondrial apoptosis and autophagy."
21654192
SCN4A affects apoptotic process
| 1
SCN4A activates apoptotic process. 1 / 1
| 1
reach
"Azacitidine resistant SKM1 myeloid cells are defective for AZA induced mitochondrial apoptosis and autophagy."
21654192
SCN4A affects adenosine 5'-monophosphate
| 1
Mutated SCN4A activates adenosine 5'-monophosphate. 1 / 1
| 1
reach
"At the molecular level, Scn4a mutations activate AMP activated protein kinase (AMPK), leading to a fibre switch towards more oxidative types."
30397387
SCN4A affects ZNF333
| 1
SCN4A binds ZNF333. 1 / 1
| 1
sparser
"Conversely, none of the top-ranked rare variants in EAs had a MAC≥10 in the CH group, except for the variants in ZNF333 (MAC=26) and SCN4A (MAC=19) which were not associated with AD risk in the CH dataset (p>0.20) ( xref )."
30503768
SCN4A affects VT/VF
| 1
SCN4A inhibits VT/VF. 1 / 1
| 1
reach
"Whereas SkM1 gene transfer reduces the incidence of inducible VT/VF, Cx32 therapy to improve gap junctional conductance results in larger infarct size, a different VT morphology, and no antiarrhythmic efficacy."
22374989
SCN4A affects TA
| 1
SCN4A binds TA. 1 / 1
| 1
sparser
"These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica."
19077043
SCN4A affects SUB
| 1
SCN4A activates SUB. 1 / 1
| 1
reach
"Both dominant and recessive forms of myotonia congenita are caused by mutations in the CLCN1 gene XREF_BIBR whilst both PMC and SCM are caused by mutations in the SCN4A gene XREF_BIBR."
23810313
SCN4A affects SNTB2
1 |
SCN4A binds SNTB2. 1 / 1
1 |
hprd
No evidence text available
9412493
SCN4A affects SNTB1
1 |
SCN4A binds SNTB1. 1 / 1
1 |
hprd
No evidence text available
9412493
SCN4A affects SLC9A3R1
1 |
SCN4A binds SLC9A3R1. 1 / 1
1 |
biogrid
No evidence text available
9677412
SCN4A affects SLC13A4
| 1
SCN4A binds SLC13A4. 1 / 1
| 1
reach
"Here, we show that Ste20, Cla4, and Skm1 form a complex with Sut1, a transcriptional regulator that promotes sterol uptake."
19793923
SCN4A affects PODXL
| 1
SCN4A activates PODXL. 1 / 1
| 1
reach
"Paramyotonia (PC) is also caused by dominant SCN4A missense mutations."
22701429
SCN4A affects PC
| 1
SCN4A activates PC. 1 / 1
| 1
reach
"In most known cases, PC is caused by a single nucleotide mutation in the SCN4A gene that encodes the alpha-subunit of the skeletal muscle sodium channel XREF_BIBR."
26484179
SCN4A affects PATJ
1 |
SCN4A binds PATJ. 1 / 1
1 |
hprd
No evidence text available
16637659
SCN4A affects NormoKPP
| 1
SCN4A activates NormoKPP. 1 / 1
| 1
reach
"Familial NormoKPP caused by the SCN4A p.M1592V mutation is rare, and its clinical features vary."
29930533
SCN4A affects Na+ channel
| 1
SCN4A activates Na+ channel. 1 / 1
| 1
reach
"Hypokalemic periodic paralysis type 2 (hypoPP2) is an inherited skeletal muscle disorder caused by missense mutations in the SCN4A gene encoding the alpha subunit of the skeletal muscle Na+ channel (Nav1.4)."
16890191
SCN4A affects NAV1
| 1
SCN4A activates NAV1. 1 / 1
| 1
reach
"Our data support the notion that the NaV1.4 dysfunction caused by the SCN4A variants will exacerbate this vulnerability."
29605429
SCN4A affects MYBL2
| 1
SCN4A decreases the amount of MYBL2. 1 / 1
| 1
reach
"To model gene dose insufficiency by RNA interference (RNAi), we used a set of eight shRNA expression vectors in the MDS and AML cell line SKM1, which reduced MYBL2 expression to 5-30% of the endogenous MYBL2 levels (XREF_FIG), approximating the endogenous levels we had identified in CD34+ cells from patients (XREF_FIG)."
23878725
SCN4A affects HyperKPP
| 1
SCN4A activates HyperKPP. 1 / 1
| 1
reach
"HyperKPP and normoKPP are caused by mutations of the same gene SCN4A, the gene encoding the skeletal muscle voltage gated sodium channel."
29907477
SCN4A affects HOKPP2
| 1
SCN4A activates HOKPP2. 1 / 1
| 1
reach
"HOKPP1 and HOKPP2 are caused by mutations in CACNA1S (calcium channel, voltage dependent, L type, alpha 1S subunit) (OMIM # 114208) and SCN4A (sodium channel, voltage gated, type IV, alpha subunit) (OMIM # 603967), respectively [XREF_BIBR, XREF_BIBR]."
25430699
SCN4A affects HOKPP1
| 1
SCN4A activates HOKPP1. 1 / 1
| 1
reach
"HOKPP1 and HOKPP2 are caused by mutations in CACNA1S (calcium channel, voltage dependent, L type, alpha 1S subunit) (OMIM # 114208) and SCN4A (sodium channel, voltage gated, type IV, alpha subunit) (OMIM # 603967), respectively [XREF_BIBR, XREF_BIBR]."
25430699
SCN4A affects FGF14
1 |
SCN4A binds FGF14. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
SCN4A affects FGF13
1 |
SCN4A binds FGF13. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
SCN4A affects FGF12
1 |
SCN4A binds FGF12. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
SCN4A affects FGF11
1 |
SCN4A binds FGF11. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
20679355
SCN4A affects ERBIN
1 |
SCN4A binds ERBIN. 1 / 1
1 |
biogrid
No evidence text available
15123239
SCN4A affects Deglutition Disorders
| 1
SCN4A activates Deglutition Disorders. 1 / 1
| 1
eidos
"443 In foals with Quarter Horse breeding , HYPP can be a cause of dysphagia ."
| PMC
SCN4A affects DLG3
1 |
SCN4A binds DLG3. 1 / 1
1 |
hprd
No evidence text available
16637659
SCN4A affects DLG2
1 |
SCN4A binds DLG2. 1 / 1
1 |
hprd
No evidence text available
16637659
SCN4A affects DLG1
1 |
SCN4A binds DLG1. 1 / 1
1 |
hprd
No evidence text available
16637659
SCN4A affects DEFB1
| 1
SCN4A binds DEFB1. 1 / 1
| 1
sparser
"In oocytes, beta 1 interacts functionally with SkM1 to modulate the abnormally slow inactivation kinetics observed with this alpha subunit expressed alone."
8240813
SCN4A affects CLE45 peptide
| 1
SCN4A binds CLE45 peptide. 1 / 1
| 1
reach
"Furthermore, a direct and specific binding of CLE45 peptide with SKM1 protein was demonstrated."
26779239
SCN4A affects CLE45
| 1
SCN4A binds CLE45. 1 / 1
| 1
reach
"In conclusion, CLE45 mitigates heat stress by binding with SKM1 and SKM2 to sustain pollen growth under higher temperatures and maintain successful seed production."
26779239
SCN4A affects CALM1
1 |
SCN4A binds CALM1. 1 / 1
1 |
biogrid
No evidence text available
15746172
SCN4A affects CALM
| 1
CALM binds SCN4A. 1 / 1
| 1
sparser
"One clue to its function may come from the demonstration that SCN4a, a voltage-gated Na + channel, is regulated by Ca 2+ and calmodulin through the interactions of calmodulin with the C-terminal domain of SCN4a ( xref )."
28695212
SCN4A affects Action potential
1 |
SCN4A activates Action potential. 1 / 1
1 |
signor
"The expression of voltage-gated sodium channels (NaVs) is a key feature for initiation and conduction of action potentials in excitable tissues and cells such as cardiac and skeletal muscle and neurons."
26043074
SCN4A affects 3-methylcholanthrene
| 1
SCN4A activates 3-methylcholanthrene. 1 / 1
| 1
reach
"MC is caused by mutations in the skeletal muscle chloride channel gene (CLCN1 [OMIM 118425]) and the skeletal muscle sodium channel gene (SCN4A [OMIM 603967])."
29451154
RPL23 affects SCN4A
| 1
RPL23 inhibits SCN4A. 1 / 1
| 1
reach
"RPL23 knockdown increases apoptosis and induces cell cycle arrest of SKM1 and K562 cells."
28539603
PPARA affects SCN4A
1 |
Transcriptionally active PPARA decreases the amount of SCN4A. 1 / 1
1 |
biopax:ctd
No evidence text available
19710929
PATJ affects SCN4A
1 |
SCN4A binds PATJ. 1 / 1
1 |
hprd
No evidence text available
16637659
IL10 affects SCN4A
1 |
Transcriptionally active IL10 decreases the amount of SCN4A. 1 / 1
1 |
signor
"Interleukin-10 down-regulates voltage gated sodium channels in rat dorsal root ganglion neurons. Consistent with the electrophysiological results, real-time PCR and western blot revealed that IL-10 (200 pg/ml) down-regulated VGSCs in both mRNA and protein levels and reversed the up-regulation of VGSCs by TNF-α."
23357618
ERBIN affects SCN4A
1 |
SCN4A binds ERBIN. 1 / 1
1 |
biogrid
No evidence text available
15123239
DLG3 affects SCN4A
1 |
SCN4A binds DLG3. 1 / 1
1 |
hprd
No evidence text available
16637659
DLG2 affects SCN4A
1 |
SCN4A binds DLG2. 1 / 1
1 |
hprd
No evidence text available
16637659
DLG1 affects SCN4A
1 |
SCN4A binds DLG1. 1 / 1
1 |
hprd
No evidence text available
16637659
DEFB1 affects SCN4A
| 1
SCN4A binds DEFB1. 1 / 1
| 1
sparser
"In oocytes, beta 1 interacts functionally with SkM1 to modulate the abnormally slow inactivation kinetics observed with this alpha subunit expressed alone."
8240813
CLE45 peptide affects SCN4A
| 1
SCN4A binds CLE45 peptide. 1 / 1
| 1
reach
"Furthermore, a direct and specific binding of CLE45 peptide with SKM1 protein was demonstrated."
26779239
CLE45 affects SCN4A
| 1
SCN4A binds CLE45. 1 / 1
| 1
reach
"In conclusion, CLE45 mitigates heat stress by binding with SKM1 and SKM2 to sustain pollen growth under higher temperatures and maintain successful seed production."
26779239
CLA4 affects SCN4A, and STE20
| 1
SCN4A binds STE20 and CLA4. 1 / 1
| 1
sparser
"Here, we show that Ste20, Cla4, and Skm1 form a complex with Sut1, a transcriptional regulator that promotes sterol uptake."
19793923
CALM1 affects SCN4A
1 |
SCN4A binds CALM1. 1 / 1
1 |
biogrid
No evidence text available
15746172
CALM affects SCN4A
| 1
CALM binds SCN4A. 1 / 1
| 1
sparser
"One clue to its function may come from the demonstration that SCN4a, a voltage-gated Na + channel, is regulated by Ca 2+ and calmodulin through the interactions of calmodulin with the C-terminal domain of SCN4a ( xref )."
28695212
BRCA1 affects SCN4A
| 1
BRCA1 activates SCN4A. 1 / 1
| 1
reach
"SKM1, coding for a Ste20 and PAK (p21-activated-kinase)-like serine/threonine protein kinase presumably involved in the activation of polarised growth, 72 is up-regulated by all BRCA1 variant sets."
19493677
AZA affects SCN4A
| 1
AZA activates SCN4A. 1 / 1
| 1
reach
"Collectively, our findings indicate that AZA promotes apoptosis and autophagy in SKM1 cells, and that AZA-R cells are resistant to both apoptosis and autophagy induced by AZA."
21654192