Details for: SCN8A

Gene ID: 6334

Symbol: SCN8A

Ensembl ID: ENSG00000196876

Description: sodium voltage-gated channel alpha subunit 8

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: 127.1076
    Cell Significance Index: -32.2400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 4.5439
    Cell Significance Index: 129.6700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 4.0658
    Cell Significance Index: 179.8400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 3.9070
    Cell Significance Index: 147.9500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.6690
    Cell Significance Index: -8.0300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 3.6535
    Cell Significance Index: 245.6600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 3.4479
    Cell Significance Index: 82.6900
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 3.0158
    Cell Significance Index: 40.2300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.9646
    Cell Significance Index: 594.6900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 2.9494
    Cell Significance Index: 50.5500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.7548
    Cell Significance Index: 988.1000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.6129
    Cell Significance Index: 57.2100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 2.4988
    Cell Significance Index: 363.2300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 2.2489
    Cell Significance Index: 138.2300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 2.2138
    Cell Significance Index: 28.7100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.7137
    Cell Significance Index: 1185.2400
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.6232
    Cell Significance Index: 12.4500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.6119
    Cell Significance Index: 319.8800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.1461
    Cell Significance Index: 14.2200
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.9970
    Cell Significance Index: 11.0000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7605
    Cell Significance Index: 42.6800
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.6159
    Cell Significance Index: 5.8600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5701
    Cell Significance Index: 56.4000
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.5331
    Cell Significance Index: 4.4000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4722
    Cell Significance Index: 426.3600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2911
    Cell Significance Index: 47.3400
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.2890
    Cell Significance Index: 3.0100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.2053
    Cell Significance Index: 2.5600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1463
    Cell Significance Index: 15.9100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1102
    Cell Significance Index: 20.9700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0686
    Cell Significance Index: 3.1100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0554
    Cell Significance Index: 1.2000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0348
    Cell Significance Index: 0.8700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.0344
    Cell Significance Index: 0.6800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.0315
    Cell Significance Index: 1.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0304
    Cell Significance Index: 57.1800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0205
    Cell Significance Index: 0.7200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.0147
    Cell Significance Index: 0.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0108
    Cell Significance Index: 0.3100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0053
    Cell Significance Index: 8.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0027
    Cell Significance Index: 1.7100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0023
    Cell Significance Index: 4.1700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0025
    Cell Significance Index: -0.0500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0048
    Cell Significance Index: -6.5000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0094
    Cell Significance Index: -0.3000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0108
    Cell Significance Index: -6.7300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0215
    Cell Significance Index: -15.9200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0218
    Cell Significance Index: -12.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0243
    Cell Significance Index: -0.6800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0279
    Cell Significance Index: -1.7600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0430
    Cell Significance Index: -31.5000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0452
    Cell Significance Index: -20.0000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0459
    Cell Significance Index: -34.7800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0494
    Cell Significance Index: -22.4400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0610
    Cell Significance Index: -33.3400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0634
    Cell Significance Index: -2.0200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0634
    Cell Significance Index: -0.8000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0740
    Cell Significance Index: -13.3400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0825
    Cell Significance Index: -17.3700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0890
    Cell Significance Index: -6.1600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0930
    Cell Significance Index: -15.8800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0940
    Cell Significance Index: -27.0600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1039
    Cell Significance Index: -6.2400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1147
    Cell Significance Index: -2.4400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1295
    Cell Significance Index: -1.8600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1510
    Cell Significance Index: -17.3000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1716
    Cell Significance Index: -3.5600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1747
    Cell Significance Index: -10.7100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1801
    Cell Significance Index: -22.1400
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: -0.1852
    Cell Significance Index: -1.5000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2120
    Cell Significance Index: -4.5800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2167
    Cell Significance Index: -29.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2454
    Cell Significance Index: -28.6000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2464
    Cell Significance Index: -31.5900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2483
    Cell Significance Index: -28.3400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2513
    Cell Significance Index: -32.4700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2904
    Cell Significance Index: -34.2500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2983
    Cell Significance Index: -31.0600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3149
    Cell Significance Index: -32.1700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3249
    Cell Significance Index: -17.0600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.3352
    Cell Significance Index: -3.9100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3422
    Cell Significance Index: -8.5400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3589
    Cell Significance Index: -25.3800
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3661
    Cell Significance Index: -4.6200
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.3755
    Cell Significance Index: -4.4900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3776
    Cell Significance Index: -28.9800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3977
    Cell Significance Index: -31.5000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.4058
    Cell Significance Index: -18.9200
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4092
    Cell Significance Index: -8.5400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.4357
    Cell Significance Index: -4.1300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4363
    Cell Significance Index: -32.5200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4761
    Cell Significance Index: -16.6800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4901
    Cell Significance Index: -23.0400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5391
    Cell Significance Index: -34.7800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5413
    Cell Significance Index: -28.2000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6376
    Cell Significance Index: -13.5800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.7257
    Cell Significance Index: -37.7000
  • Cell Name: L5/6 near-projecting glutamatergic neuron of the primary motor cortex (CL4023043)
    Fold Change: -0.7383
    Cell Significance Index: -7.4600
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.7612
    Cell Significance Index: -14.9800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.7794
    Cell Significance Index: -33.8900

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:** 1. **Expression Pattern:** SCN8A is predominantly expressed in neurons, particularly in inhibitory interneurons, Purkinje cells, and stellate neurons, which are crucial for regulating neural activity and synaptic transmission. 2. **Channel Properties:** Nav8.1 channels exhibit characteristics of both fast-inactivating (IA) and slow-inactivating (IA2) sodium channels, allowing for a wide range of expression and modulation of neuronal excitability. 3. **Subcellular Localization:** SCN8A channels are primarily localized at the axon initial segment, node of Ranvier, and presynaptic active zones, where they play a key role in the generation and propagation of action potentials. 4. **Regulation:** SCN8A channels are modulated by various factors, including calcium ions, voltage-dependent calcium channels, and synaptic neurotransmitters, which can influence their biophysical properties and excitability. **Pathways and Functions:** 1. **Action Potential Generation:** SCN8A channels contribute to the generation of action potentials by allowing the rapid influx of sodium ions into the neuron, which initiates the depolarization phase. 2. **Axonal Propagation:** Nav8.1 channels are essential for the propagation of action potentials along the axon, enabling the transmission of electrical signals over long distances. 3. **Synaptic Transmission:** SCN8A channels play a critical role in the regulation of synaptic transmission by modulating the release and uptake of neurotransmitters, such as GABA, at excitatory and inhibitory synapses. 4. **Neuronal Excitability:** SCN8A channels influence the excitability of neurons by regulating the threshold for action potential generation, which is critical for maintaining proper neural function and preventing excessive neuronal activity. **Clinical Significance:** 1. **Neurological Disorders:** Mutations in the SCN8A gene have been associated with various neurological disorders, including epilepsy, myasthenia gravis, and Lambert-Eaton myasthenic syndrome. 2. **Epilepsy:** SCN8A mutations have been linked to a subset of epilepsy cases, particularly those with a history of infantile spasms or early-onset epilepsy. 3. **Myasthenia Gravis:** SCN8A mutations have been identified in patients with myasthenia gravis, a chronic autoimmune disorder characterized by muscle weakness and fatigue. 4. **Therapeutic Targets:** Understanding the role of SCN8A in neural function and excitability has led to the development of novel therapeutic strategies, including the use of sodium channel blockers to treat epilepsy and myasthenia gravis. In conclusion, the SCN8A gene plays a critical role in the nervous system's voltage-gated sodium channels, influencing neuronal excitability, synaptic transmission, and action potential generation. Mutations in this gene have been associated with various neurological disorders, highlighting its importance in maintaining proper neural function and excitability. Further research into the SCN8A gene and its role in neurological diseases will continue to uncover new therapeutic targets and improve our understanding of the complex mechanisms underlying neural function and dysfunction.

Genular Protein ID: 3031052342

Symbol: SCN8A_HUMAN

Name: Sodium channel protein type 8 subunit alpha

UniProtKB Accession Codes:

Q9UQD0 B9VWG8 O95788 Q9NYX2 Q9UPB2

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 4 ChEMBL 1 ChiTaRS 1 ComplexPortal 4 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 20 DrugCentral 1 EMBL 34 EMDB 3 Ensembl 6 ExpressionAtlas 1 GO 25 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 9 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 RNAct 1 Reactome 2 RefSeq 6 Rhea 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9295353

Title: Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.

PubMed ID: 9295353

DOI: 10.1074/jbc.272.38.24008

PubMed ID: 9828131

Title: Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.

PubMed ID: 9828131

DOI: 10.1006/geno.1998.5550

PubMed ID: 19136557

Title: Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A.

PubMed ID: 19136557

DOI: 10.1074/jbc.m801892200

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15282281

Title: Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons.

PubMed ID: 15282281

DOI: 10.1523/jneurosci.1628-04.2004

PubMed ID: 16236810

Title: Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

PubMed ID: 16236810

DOI: 10.1136/jmg.2005.035667

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: 28428547

Title: The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance of the S1-S2 voltage-sensor region for sodium channel subtype selectivity.

PubMed ID: 28428547

DOI: 10.1038/s41598-017-01129-0

PubMed ID: 33245860

Title: Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

PubMed ID: 33245860

DOI: 10.1016/j.ajhg.2020.10.017

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: 36823201

Title: Structure of human NaV1.6 channel reveals Na+ selectivity and pore blockade by 4,9-anhydro-tetrodotoxin.

PubMed ID: 36823201

DOI: 10.1038/s41467-023-36766-9

PubMed ID: 36696443

Title: Cryo-EM structure of human voltage-gated sodium channel Nav1.6.

PubMed ID: 36696443

DOI: 10.1073/pnas.2220578120

PubMed ID: 22365152

Title: de novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

PubMed ID: 22365152

DOI: 10.1016/j.ajhg.2012.01.006

PubMed ID: 24352161

Title: De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

PubMed ID: 24352161

DOI: 10.1177/0883073813511300

PubMed ID: 23708187

Title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PubMed ID: 23708187

DOI: 10.1038/ng.2646

PubMed ID: 24888894

Title: Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

PubMed ID: 24888894

DOI: 10.1111/epi.12668

PubMed ID: 25239001

Title: Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

PubMed ID: 25239001

DOI: 10.1016/j.eplepsyres.2014.08.020

PubMed ID: 24874546

Title: A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

PubMed ID: 24874546

DOI: 10.1016/j.nbd.2014.05.017

PubMed ID: 25785782

Title: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

PubMed ID: 25785782

DOI: 10.1111/epi.12925

PubMed ID: 25818041

Title: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PubMed ID: 25818041

DOI: 10.1111/epi.12954

PubMed ID: 25725044

Title: De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

PubMed ID: 25725044

DOI: 10.1136/jmedgenet-2014-102813

PubMed ID: 25568300

Title: The phenotypic spectrum of SCN8A encephalopathy.

PubMed ID: 25568300

DOI: 10.1212/wnl.0000000000001211

PubMed ID: 27210545

Title: Autosomal dominant SCN8A mutation with an unusually mild phenotype.

PubMed ID: 27210545

DOI: 10.1016/j.ejpn.2016.04.015

PubMed ID: 26900580

Title: Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

PubMed ID: 26900580

DOI: 10.1002/acn3.276

PubMed ID: 26677014

Title: Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

PubMed ID: 26677014

DOI: 10.1002/ana.24580

PubMed ID: 26993267

Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed ID: 26993267

DOI: 10.1136/jmedgenet-2015-103263

PubMed ID: 28923014

Title: SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

PubMed ID: 28923014

DOI: 10.1186/s12881-017-0460-1

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

PubMed ID: 28842554

Title: CDYL suppresses epileptogenesis in mice through repression of axonal Nav1.6 sodium channel expression.

PubMed ID: 28842554

DOI: 10.1038/s41467-017-00368-z

PubMed ID: 29726066

Title: Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.

PubMed ID: 29726066

DOI: 10.1002/humu.23547

Sequence Information:

  • Length: 1980
  • Mass: 225280
  • Checksum: 0EFC7BFB137FD4F0
  • Sequence:
    • MAARLLAPPG PDSFKPFTPE SLANIERRIA ESKLKKPPKA DGSHREDDED SKPKPNSDLE 
AGKSLPFIYG DIPQGLVAVP LEDFDPYYLT QKTFVVLNRG KTLFRFSATP ALYILSPFNL 
IRRIAIKILI HSVFSMIIMC TILTNCVFMT FSNPPDWSKN VEYTFTGIYT FESLVKIIAR 
GFCIDGFTFL RDPWNWLDFS VIMMAYITEF VNLGNVSALR TFRVLRALKT ISVIPGLKTI 
VGALIQSVKK LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTKGF 
DWEEYINNKT NFYTVPGMLE PLLCGNSSDA GQCPEGYQCM KAGRNPNYGY TSFDTFSWAF 
LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF YLVNLILAVV AMAYEEQNQA 
TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA MATSAGTVSE DAIEEEGEEG GGSPRSSSEI 
SKLSSKSAKE RRNRRKKRKQ KELSEGEEKG DPEKVFKSES EDGMRRKAFR LPDNRIGRKF 
SIMNQSLLSI PGSPFLSRHN SKSSIFSFRG PGRFRDPGSE NEFADDEHST VEESEGRRDS 
LFIPIRARER RSSYSGYSGY SQGSRSSRIF PSLRRSVKRN STVDCNGVVS LIGGPGSHIG 
GRLLPEATTE VEIKKKGPGS LLVSMDQLAS YGRKDRINSI MSVVTNTLVE ELEESQRKCP 
PCWYKFANTF LIWECHPYWI KLKEIVNLIV MDPFVDLAIT ICIVLNTLFM AMEHHPMTPQ 
FEHVLAVGNL VFTGIFTAEM FLKLIAMDPY YYFQEGWNIF DGFIVSLSLM ELSLADVEGL 
SVLRSFRLLR VFKLAKSWPT LNMLIKIIGN SVGALGNLTL VLAIIVFIFA VVGMQLFGKS 
YKECVCKINQ DCELPRWHMH DFFHSFLIVF RVLCGEWIET MWDCMEVAGQ AMCLIVFMMV 
MVIGNLVVLN LFLALLLSSF SADNLAATDD DGEMNNLQIS VIRIKKGVAW TKLKVHAFMQ 
AHFKQREADE VKPLDELYEK KANCIANHTG ADIHRNGDFQ KNGNGTTSGI GSSVEKYIID 
EDHMSFINNP NLTVRVPIAV GESDFENLNT EDVSSESDPE GSKDKLDDTS SSEGSTIDIK 
PEVEEVPVEQ PEEYLDPDAC FTEGCVQRFK CCQVNIEEGL GKSWWILRKT CFLIVEHNWF 
ETFIIFMILL SSGALAFEDI YIEQRKTIRT ILEYADKVFT YIFILEMLLK WTAYGFVKFF 
TNAWCWLDFL IVAVSLVSLI ANALGYSELG AIKSLRTLRA LRPLRALSRF EGMRVVVNAL 
VGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKYHYCFNET SEIRFEIEDV NNKTECEKLM 
EGNNTEIRWK NVKINFDNVG AGYLALLQVA TFKGWMDIMY AAVDSRKPDE QPKYEDNIYM 
YIYFVIFIIF GSFFTLNLFI GVIIDNFNQQ KKKFGGQDIF MTEEQKKYYN AMKKLGSKKP 
QKPIPRPLNK IQGIVFDFVT QQAFDIVIMM LICLNMVTMM VETDTQSKQM ENILYWINLV 
FVIFFTCECV LKMFALRHYY FTIGWNIFDF VVVILSIVGM FLADIIEKYF VSPTLFRVIR 
LARIGRILRL IKGAKGIRTL LFALMMSLPA LFNIGLLLFL VMFIFSIFGM SNFAYVKHEA 
GIDDMFNFET FGNSMICLFQ ITTSAGWDGL LLPILNRPPD CSLDKEHPGS GFKGDCGNPS 
VGIFFFVSYI IISFLIVVNM YIAIILENFS VATEESADPL SEDDFETFYE IWEKFDPDAT 
QFIEYCKLAD FADALEHPLR VPKPNTIELI AMDLPMVSGD RIHCLDILFA FTKRVLGDSG 
ELDILRQQME ERFVASNPSK VSYEPITTTL RRKQEEVSAV VLQRAYRGHL ARRGFICKKT 
TSNKLENGGT HREKKESTPS TASLPSYDSV TKPEKEKQQR AEEGRRERAK RQKEVRESKC

Genular Protein ID: 1740916503

Symbol: Q6B4S4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6B4S4

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 2 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 4 RefSeq 1 SAM 2 SMR 1 SUPFAM 1

Citations:

PubMed ID: 15302875

Title: Expression of alternatively spliced sodium channel alpha-subunit genes: unique splicing patterns are observed in dorsal root ganglia.

PubMed ID: 15302875

DOI: 10.1074/jbc.M406387200

Sequence Information:

  • Length: 531
  • Mass: 59709
  • Checksum: 44A31C1D45D18FD5
  • Sequence:
    • FSNPPDWSKN VEYTFTGIYT FESLVKIIAR GFCIDGFTFL RDPWNWLDFS VIMMAYVTEF 
VDLGNVSALR TFRVLRALKT ISVIPGLKTI VGALIQSVKK LSDVMILTVF CLSVFALIGL 
QLFMGNLRNK CVVWPINFNE SYLENGTKGF DWEEYINNKT NFYTVPGMLE PLLCGNSSDA 
GQCPEGYQCM KAGRNPNYGY TSFDTFSWAF LALFRLMTQD YWENLYQLTL RAAGKTYMIF 
FVLVIFVGSF YLVNLILAVV AMAYEEQNQA TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA 
MATSAGTVSE DAIEEEGEEG GGSPRSSSEI SKLSSKSAKE RRNRRKKRKQ KELSEGEEKG 
DPEKVFKSES EDGMRRKAFR LPDNRIGRKF SIMNQSLLSI PGSPFLSRHN SKSSIFSFRG 
PGRFRDPGSE NEFADDEHST VEESEGRRDS LFIPIRARER RSSYSGYSGY SQGSRSSRIF 
PSLRRSVKRN STVDCNGVVS LIGGPGSHIG GRLLPEATTE VEIKKKGPGS L

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.