Details for: SCN4A

Gene ID: 6329

Symbol: SCN4A

Ensembl ID: ENSG00000007314

Description: sodium voltage-gated channel alpha subunit 4

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 21.9994
    Cell Significance Index: -5.5800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 7.0891
    Cell Significance Index: -2.8800
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 3.3117
    Cell Significance Index: 49.5400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 3.0165
    Cell Significance Index: -2.8800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.8991
    Cell Significance Index: 74.5200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 2.2603
    Cell Significance Index: 55.1500
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 1.3833
    Cell Significance Index: 22.3200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.2845
    Cell Significance Index: 31.1200
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.5834
    Cell Significance Index: 8.2900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0731
    Cell Significance Index: 1.9600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.0606
    Cell Significance Index: 6.3100
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.0223
    Cell Significance Index: 0.1600
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.0027
    Cell Significance Index: 0.0400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0009
    Cell Significance Index: -0.1700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0011
    Cell Significance Index: -2.1000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0041
    Cell Significance Index: -2.6300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0062
    Cell Significance Index: -4.5600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0075
    Cell Significance Index: -2.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0076
    Cell Significance Index: -4.7200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0080
    Cell Significance Index: -4.5100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0084
    Cell Significance Index: -15.4500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0086
    Cell Significance Index: -1.7300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0093
    Cell Significance Index: -1.6700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0096
    Cell Significance Index: -5.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0100
    Cell Significance Index: -15.3800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0108
    Cell Significance Index: -3.1100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0117
    Cell Significance Index: -15.8800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0121
    Cell Significance Index: -5.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0129
    Cell Significance Index: -2.2100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0149
    Cell Significance Index: -2.1700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0161
    Cell Significance Index: -0.2600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0191
    Cell Significance Index: -2.3500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0215
    Cell Significance Index: -2.5300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0221
    Cell Significance Index: -4.6500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0225
    Cell Significance Index: -2.6200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0271
    Cell Significance Index: -3.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0297
    Cell Significance Index: -3.0300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0341
    Cell Significance Index: -3.9100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0359
    Cell Significance Index: -0.7000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0384
    Cell Significance Index: -0.5500
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.0431
    Cell Significance Index: -0.4500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0441
    Cell Significance Index: -1.2000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0476
    Cell Significance Index: -3.5500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0483
    Cell Significance Index: -1.0100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0485
    Cell Significance Index: -3.1300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0507
    Cell Significance Index: -6.9600
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: -0.0517
    Cell Significance Index: -0.3100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0536
    Cell Significance Index: -2.7900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0638
    Cell Significance Index: -4.2900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0658
    Cell Significance Index: -1.6400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0667
    Cell Significance Index: -1.0700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0685
    Cell Significance Index: -3.2200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0717
    Cell Significance Index: -0.7800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0718
    Cell Significance Index: -1.0600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0719
    Cell Significance Index: -1.2700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0775
    Cell Significance Index: -2.1700
  • Cell Name: ionocyte (CL0005006)
    Fold Change: -0.0784
    Cell Significance Index: -0.8200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0830
    Cell Significance Index: -3.7600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0841
    Cell Significance Index: -3.9200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0872
    Cell Significance Index: -5.3600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0907
    Cell Significance Index: -4.5800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0910
    Cell Significance Index: -1.5600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0944
    Cell Significance Index: -3.2800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0947
    Cell Significance Index: -1.3800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0960
    Cell Significance Index: -7.3700
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.0967
    Cell Significance Index: -0.9500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0973
    Cell Significance Index: -2.1300
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1031
    Cell Significance Index: -1.0000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1047
    Cell Significance Index: -3.0000
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.1092
    Cell Significance Index: -1.3500
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.1093
    Cell Significance Index: -1.4000
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1122
    Cell Significance Index: -1.1300
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1127
    Cell Significance Index: -1.2300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1145
    Cell Significance Index: -4.0100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1156
    Cell Significance Index: -3.4100
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.1183
    Cell Significance Index: -1.6200
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: -0.1199
    Cell Significance Index: -1.2400
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1201
    Cell Significance Index: -2.0700
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: -0.1215
    Cell Significance Index: -1.1900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1256
    Cell Significance Index: -3.6900
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.1258
    Cell Significance Index: -1.3900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1263
    Cell Significance Index: -7.0900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1286
    Cell Significance Index: -4.2100
  • Cell Name: tongue muscle cell (CL0002673)
    Fold Change: -0.1295
    Cell Significance Index: -0.9700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1327
    Cell Significance Index: -2.7000
  • Cell Name: group 3 innate lymphoid cell, human (CL0001078)
    Fold Change: -0.1329
    Cell Significance Index: -1.2500
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.1331
    Cell Significance Index: -1.3800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1385
    Cell Significance Index: -4.4100
  • Cell Name: parietal cell (CL0000162)
    Fold Change: -0.1448
    Cell Significance Index: -1.3700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1455
    Cell Significance Index: -3.1100
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.1497
    Cell Significance Index: -2.1900
  • Cell Name: immature NK T cell (CL0000914)
    Fold Change: -0.1500
    Cell Significance Index: -1.9200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1506
    Cell Significance Index: -4.0200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1517
    Cell Significance Index: -4.3300
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.1517
    Cell Significance Index: -1.5700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1527
    Cell Significance Index: -3.9000
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.1549
    Cell Significance Index: -2.1300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1579
    Cell Significance Index: -2.6600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1580
    Cell Significance Index: -3.9400
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.1607
    Cell Significance Index: -1.8600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The SCN4A gene exhibits several key characteristics that distinguish it from other genes. These include: 1. **High expression levels**: The SCN4A gene is significantly expressed in various cell types, including those involved in the nervous system, cardiovascular system, and muscle tissue. 2. **Voltage-gated sodium channel activity**: The SCN4A gene encodes for the alpha subunit of the voltage-gated sodium channel, which is responsible for the rapid depolarization phase of the action potential. 3. **Regulation of skeletal muscle contraction**: The SCN4A gene plays a critical role in regulating skeletal muscle contraction by action potential. 4. **Interaction with other proteins**: The SCN4A gene interacts with other proteins, including L1 and ankyrins, to regulate the function of voltage-gated sodium channels. **Pathways and Functions** The SCN4A gene is involved in multiple cellular pathways, including: 1. **Axon guidance**: The SCN4A gene plays a critical role in axon guidance, a process that ensures the proper formation of neural connections during development. 2. **Cardiac conduction**: The SCN4A gene is involved in cardiac conduction, a process that regulates the electrical activity of the heart. 3. **Muscle contraction**: The SCN4A gene regulates muscle contraction by action potential, ensuring that skeletal muscles contract and relax in a coordinated manner. 4. **Neural development**: The SCN4A gene is involved in neural development, including the formation of synapses and the regulation of neuronal excitability. **Clinical Significance** The SCN4A gene has significant clinical implications, particularly in relation to cardiac and muscular disorders. Mutations in the SCN4A gene have been associated with: 1. **Hypokalemic periodic paralysis**: A genetic disorder characterized by episodes of muscle weakness and paralysis. 2. **Long QT syndrome**: A cardiac disorder that can lead to sudden death due to abnormal heart rhythms. 3. **Muscle channelopathies**: A group of disorders characterized by abnormal ion channel function, leading to muscle weakness and paralysis. In conclusion, the SCN4A gene is a critical component of sodium voltage-gated channels that play a pivotal role in maintaining the electrical excitability of neurons and muscle cells. Its involvement in multiple cellular pathways, including axon guidance, cardiac conduction, and muscle contraction, highlights its importance in maintaining normal cellular function. Additionally, its clinical significance in relation to cardiac and muscular disorders underscores the need for further research into the SCN4A gene and its role in human disease.

Genular Protein ID: 1756061418

Symbol: SCN4A_HUMAN

Name: Sodium channel protein skeletal muscle subunit alpha

UniProtKB Accession Codes:

P35499 Q15478 Q16447 Q7Z6B1

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 4 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 24 DrugCentral 1 EMBL 47 EMDB 1 Ensembl 1 GO 8 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 16 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 4 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1315496

Title: Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.

PubMed ID: 1315496

DOI: 10.1002/ana.410310203

PubMed ID: 1310396

Title: Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.

PubMed ID: 1310396

DOI: 10.1016/0006-291x(92)91802-w

PubMed ID: 12766226

Title: Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

PubMed ID: 12766226

DOI: 10.1073/pnas.1230273100

PubMed ID: 1339144

Title: The genomic structure of the human skeletal muscle sodium channel gene.

PubMed ID: 1339144

DOI: 10.1093/hmg/1.7.521

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 1310898

Title: Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.

PubMed ID: 1310898

DOI: 10.1016/0092-8674(92)90151-2

PubMed ID: 24497506

Title: A disulfide tether stabilizes the block of sodium channels by the conotoxin muO[section sign]-GVIIJ.

PubMed ID: 24497506

DOI: 10.1073/pnas.1324189111

PubMed ID: 29992740

Title: A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel.

PubMed ID: 29992740

DOI: 10.1002/humu.23589

PubMed ID: 37117223

Title: Pain-causing stinging nettle toxins target TMEM233 to modulate NaV1.7 function.

PubMed ID: 37117223

DOI: 10.1038/s41467-023-37963-2

PubMed ID: 30190309

Title: Structure of the human voltage-gated sodium channel Nav1.4 in complex with beta1.

PubMed ID: 30190309

DOI: 10.1126/science.aau2486

PubMed ID: 1659948

Title: Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

PubMed ID: 1659948

DOI: 10.1016/0092-8674(91)90374-8

PubMed ID: 1659668

Title: A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.

PubMed ID: 1659668

DOI: 10.1038/354387a0

PubMed ID: 1338909

Title: Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

PubMed ID: 1338909

DOI: 10.1038/ng1092-148

PubMed ID: 1316765

Title: Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

PubMed ID: 1316765

DOI: 10.1016/0896-6273(92)90203-p

PubMed ID: 8388676

Title: Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.

PubMed ID: 8388676

DOI: 10.1002/ana.410330312

PubMed ID: 8308722

Title: Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.

PubMed ID: 8308722

DOI: 10.1113/jphysiol.1993.sp019843

PubMed ID: 8242056

Title: A novel SCN4A mutation causing myotonia aggravated by cold and potassium.

PubMed ID: 8242056

DOI: 10.1093/hmg/2.9.1349

PubMed ID: 8058156

Title: Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

PubMed ID: 8058156

DOI: 10.1212/wnl.44.8.1500

PubMed ID: 7695243

Title: Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?

PubMed ID: 7695243

DOI: 10.1002/ana.410370320

PubMed ID: 8580427

Title: Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).

PubMed ID: 8580427

DOI: 10.1097/00001756-199510010-00012

PubMed ID: 9266738

Title: A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism.

PubMed ID: 9266738

DOI: 10.1002/ana.410420219

PubMed ID: 9392583

Title: A novel muscle sodium channel mutation causes painful congenital myotonia.

PubMed ID: 9392583

DOI: 10.1002/ana.410420520

PubMed ID: 10369308

Title: A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.

PubMed ID: 10369308

DOI: 10.1001/archneur.56.6.692

PubMed ID: 10218481

Title: Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.

PubMed ID: 10218481

DOI: 10.1016/s0014-5793(99)00338-5

PubMed ID: 10599760

Title: A novel sodium channel mutation in a family with hypokalemic periodic paralysis.

PubMed ID: 10599760

DOI: 10.1212/wnl.53.9.1932

PubMed ID: 10727489

Title: Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.

PubMed ID: 10727489

DOI: 10.1136/jnnp.68.4.504

PubMed ID: 10851391

Title: Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.

PubMed ID: 10851391

DOI: 10.1212/wnl.54.11.2179

PubMed ID: 10944223

Title: Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

PubMed ID: 10944223

DOI: 10.1073/pnas.97.17.9549

PubMed ID: 11558801

Title: Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

PubMed ID: 11558801

DOI: 10.1002/ana.1144

PubMed ID: 11591859

Title: Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

PubMed ID: 11591859

DOI: 10.1212/wnl.57.7.1323

PubMed ID: 15318338

Title: Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.

PubMed ID: 15318338

DOI: 10.1002/mus.20080

PubMed ID: 15596759

Title: New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PubMed ID: 15596759

DOI: 10.1212/01.wnl.0000145768.09934.ec

PubMed ID: 15790667

Title: A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

PubMed ID: 15790667

DOI: 10.1113/jphysiol.2004.081018

PubMed ID: 16786525

Title: Cold extends electromyography distinction between ion channel mutations causing myotonia.

PubMed ID: 16786525

DOI: 10.1002/ana.20905

PubMed ID: 16890191

Title: Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.

PubMed ID: 16890191

DOI: 10.1016/j.bbrc.2006.07.101

PubMed ID: 16832098

Title: Autosomal dominant monosymptomatic myotonia permanens.

PubMed ID: 16832098

DOI: 10.1212/01.wnl.0000223838.88872.da

PubMed ID: 18162704

Title: The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

PubMed ID: 18162704

DOI: 10.3346/jkms.2007.22.6.946

PubMed ID: 17212350

Title: A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.

PubMed ID: 17212350

DOI: 10.1002/mus.20733

PubMed ID: 17998485

Title: A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

PubMed ID: 17998485

DOI: 10.1212/01.wnl.0000290831.08585.2c

PubMed ID: 18203179

Title: Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

PubMed ID: 18203179

DOI: 10.1002/ajmg.a.32141

PubMed ID: 18046642

Title: Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.

PubMed ID: 18046642

DOI: 10.1007/s10571-007-9231-4

PubMed ID: 18690054

Title: Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.

PubMed ID: 18690054

DOI: 10.4161/chan.2.1.6051

PubMed ID: 18166706

Title: What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

PubMed ID: 18166706

DOI: 10.1212/01.wnl.0000287069.21162.94

PubMed ID: 17898326

Title: Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.

PubMed ID: 17898326

DOI: 10.1212/01.wnl.0000265397.70057.d8

PubMed ID: 19015483

Title: A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.

PubMed ID: 19015483

DOI: 10.1212/01.wnl.0000335168.86248.55

PubMed ID: 20076800

Title: Clinical diversity of SCN4A-mutation-associated skeletal muscle sodium channelopathy.

PubMed ID: 20076800

DOI: 10.3988/jcn.2009.5.4.186

PubMed ID: 19347921

Title: New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

PubMed ID: 19347921

DOI: 10.1002/mus.21155

PubMed ID: 18337100

Title: Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

PubMed ID: 18337100

DOI: 10.1016/j.nmd.2008.01.007

PubMed ID: 19118277

Title: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

PubMed ID: 19118277

DOI: 10.1212/01.wnl.0000342387.65477.46

PubMed ID: 19077043

Title: Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.

PubMed ID: 19077043

DOI: 10.1111/j.1440-1789.2008.00985.x

PubMed ID: 20522878

Title: Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.

PubMed ID: 20522878

DOI: 10.1136/jnnp.2009.177451

PubMed ID: 21043388

Title: Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.

PubMed ID: 21043388

PubMed ID: 24549961

Title: NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.

PubMed ID: 24549961

DOI: 10.1093/brain/awu015

PubMed ID: 25707578

Title: Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

PubMed ID: 25707578

DOI: 10.1002/ana.24389

PubMed ID: 26427606

Title: SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

PubMed ID: 26427606

DOI: 10.1093/hmg/ddv410

PubMed ID: 25660391

Title: SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.

PubMed ID: 25660391

DOI: 10.1016/j.nmd.2015.01.006

PubMed ID: 26700687

Title: Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

PubMed ID: 26700687

DOI: 10.1093/brain/awv352

PubMed ID: 27653901

Title: A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

PubMed ID: 27653901

DOI: 10.1016/j.jns.2016.08.030

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

PubMed ID: 26659129

Title: A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

PubMed ID: 26659129

DOI: 10.1212/wnl.0000000000002264

PubMed ID: 28262468

Title: Congenital myopathy with 'corona' fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

PubMed ID: 28262468

DOI: 10.1016/j.nmd.2017.02.001

PubMed ID: 36090556

Title: Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype.

PubMed ID: 36090556

DOI: 10.3389/fped.2022.944784

Sequence Information:

  • Length: 1836
  • Mass: 208061
  • Checksum: FA9A6B81B7C2D50F
  • Sequence:
    • MARPSLCTLV PLGPECLRPF TRESLAAIEQ RAVEEEARLQ RNKQMEIEEP ERKPRSDLEA 
GKNLPMIYGD PPPEVIGIPL EDLDPYYSNK KTFIVLNKGK AIFRFSATPA LYLLSPFSVV 
RRGAIKVLIH ALFSMFIMIT ILTNCVFMTM SDPPPWSKNV EYTFTGIYTF ESLIKILARG 
FCVDDFTFLR DPWNWLDFSV IMMAYLTEFV DLGNISALRT FRVLRALKTI TVIPGLKTIV 
GALIQSVKKL SDVMILTVFC LSVFALVGLQ LFMGNLRQKC VRWPPPFNDT NTTWYSNDTW 
YGNDTWYGNE MWYGNDSWYA NDTWNSHASW ATNDTFDWDA YISDEGNFYF LEGSNDALLC 
GNSSDAGHCP EGYECIKTGR NPNYGYTSYD TFSWAFLALF RLMTQDYWEN LFQLTLRAAG 
KTYMIFFVVI IFLGSFYLIN LILAVVAMAY AEQNEATLAE DKEKEEEFQQ MLEKFKKHQE 
ELEKAKAAQA LEGGEADGDP AHGKDCNGSL DTSQGEKGAP RQSSSGDSGI SDAMEELEEA 
HQKCPPWWYK CAHKVLIWNC CAPWLKFKNI IHLIVMDPFV DLGITICIVL NTLFMAMEHY 
PMTEHFDNVL TVGNLVFTGI FTAEMVLKLI AMDPYEYFQQ GWNIFDSIIV TLSLVELGLA 
NVQGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII VFIFAVVGMQ 
LFGKSYKECV CKIALDCNLP RWHMHDFFHS FLIVFRILCG EWIETMWDCM EVAGQAMCLT 
VFLMVMVIGN LVVLNLFLAL LLSSFSADSL AASDEDGEMN NLQIAIGRIK LGIGFAKAFL 
LGLLHGKILS PKDIMLSLGE ADGAGEAGEA GETAPEDEKK EPPEEDLKKD NHILNHMGLA 
DGPPSSLELD HLNFINNPYL TIQVPIASEE SDLEMPTEEE TDTFSEPEDS KKPPQPLYDG 
NSSVCSTADY KPPEEDPEEQ AEENPEGEQP EECFTEACVQ RWPCLYVDIS QGRGKKWWTL 
RRACFKIVEH NWFETFIVFM ILLSSGALAF EDIYIEQRRV IRTILEYADK VFTYIFIMEM 
LLKWVAYGFK VYFTNAWCWL DFLIVDVSII SLVANWLGYS ELGPIKSLRT LRALRPLRAL 
SRFEGMRVVV NALLGAIPSI MNVLLVCLIF WLIFSIMGVN LFAGKFYYCI NTTTSERFDI 
SEVNNKSECE SLMHTGQVRW LNVKVNYDNV GLGYLSLLQV ATFKGWMDIM YAAVDSREKE 
EQPQYEVNLY MYLYFVIFII FGSFFTLNLF IGVIIDNFNQ QKKKLGGKDI FMTEEQKKYY 
NAMKKLGSKK PQKPIPRPQN KIQGMVYDLV TKQAFDITIM ILICLNMVTM MVETDNQSQL 
KVDILYNINM IFIIIFTGEC VLKMLALRQY YFTVGWNIFD FVVVILSIVG LALSDLIQKY 
FVSPTLFRVI RLARIGRVLR LIRGAKGIRT LLFALMMSLP ALFNIGLLLF LVMFIYSIFG 
MSNFAYVKKE SGIDDMFNFE TFGNSIICLF EITTSAGWDG LLNPILNSGP PDCDPNLENP 
GTSVKGDCGN PSIGICFFCS YIIISFLIVV NMYIAIILEN FNVATEESSE PLGEDDFEMF 
YETWEKFDPD ATQFIAYSRL SDFVDTLQEP LRIAKPNKIK LITLDLPMVP GDKIHCLDIL 
FALTKEVLGD SGEMDALKQT MEEKFMAANP SKVSYEPITT TLKRKHEEVC AIKIQRAYRR 
HLLQRSMKQA SYMYRHSHDG SGDDAPEKEG LLANTMSKMY GHENGNSSSP SPEEKGEAGD 
AGPTMGLMPI SPSDTAWPPA PPPGQTVRPG VKESLV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.