Details for: SCN8A

Gene ID: 6334

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: SCN8A

Ensembl ID: ENSG00000196876

Description: sodium voltage-gated channel alpha subunit 8

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • pvalb GABAergic cortical interneuron CL4023018
    CSI 48.37
    rCSI 60.18%
    PRS 96.96
  • VIP GABAergic cortical interneuron CL4023016
    CSI 45.46
    rCSI 54.31%
    PRS 97.32
  • sst GABAergic cortical interneuron CL4023017
    CSI 41.79
    rCSI 53.87%
    PRS 97.66
  • sncg GABAergic cortical interneuron CL4023015
    CSI 36.16
    rCSI 58.15%
    PRS 97.16
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 35.56
    rCSI 59.69%
    PRS 97.64
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 32.28
    rCSI 57%
    PRS 97.43
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 28.92
    rCSI 62.73%
    PRS 95.64
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 24.52
    rCSI 59.59%
    PRS 96.47
  • neuron CL0000540
    CSI 23.43
    rCSI 62.39%
    PRS 95.45
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 23.41
    rCSI 55.99%
    PRS 96.38
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 20.47
    rCSI 64.03%
    PRS 97.65
  • L6b glutamatergic cortical neuron CL4023038
    CSI 20
    rCSI 62.52%
    PRS 97.32
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 19.95
    rCSI 65.56%
    PRS 95.95
  • retinal ganglion cell CL0000740
    CSI 19.91
    rCSI 43.99%
    PRS 97.29
  • cerebellar granule cell CL0001031
    CSI 19.57
    rCSI 28.77%
    PRS 97.77
  • glutamatergic neuron CL0000679
    CSI 18.5
    rCSI 38.02%
    PRS 95.43
  • inhibitory interneuron CL0000498
    CSI 18.12
    rCSI 41.82%
    PRS 97.43
  • interneuron CL0000099
    CSI 17.44
    rCSI 35.01%
    PRS 98.31
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 17.17
    rCSI 61.8%
    PRS 96.82
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 16.55
    rCSI 62.55%
    PRS 96.87
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 14.12
    rCSI 16.3%
    PRS 97.91
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 12.78
    rCSI 16.4%
    PRS 98.55
  • vascular leptomeningeal cell CL4023051
    CSI 11.93
    rCSI 20.92%
    PRS 98.41
  • cerebral cortex neuron CL0010012
    CSI 10.48
    rCSI 42.69%
    PRS 97.03
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 10.46
    rCSI 61.6%
    PRS 96.86
  • retinal bipolar neuron CL0000748
    CSI 10.34
    rCSI 19.36%
    PRS 97.57
  • Mueller cell CL0000636
    CSI 9.93
    rCSI 22.65%
    PRS 97.98
  • GABAergic amacrine cell CL4030027
    CSI 9.77
    rCSI 33.46%
    PRS 95.82
  • Bergmann glial cell CL0000644
    CSI 9.67
    rCSI 13.23%
    PRS 97.79
  • neural cell CL0002319
    CSI 9.55
    rCSI 36.03%
    PRS 95.51
  • cerebral cortex endothelial cell CL1001602
    CSI 9.46
    rCSI 16.36%
    PRS 98.28
  • glioblast CL0000030
    CSI 9.3
    rCSI 14.83%
    PRS 97.86
  • GABAergic neuron CL0000617
    CSI 8.92
    rCSI 29.87%
    PRS 95.31
  • central nervous system neuron CL2000029
    CSI 8.54
    rCSI 62.79%
    PRS 97.72
  • starburst amacrine cell CL0004232
    CSI 7.94
    rCSI 66.79%
    PRS 94.69
  • astrocyte of the cerebral cortex CL0002605
    CSI 7.31
    rCSI 16.38%
    PRS 97.48
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 6.81
    rCSI 12.36%
    PRS 97.75
  • rod bipolar cell CL0000751
    CSI 6.45
    rCSI 11.59%
    PRS 98.06
  • lung neuroendocrine cell CL1000223
    CSI 6.17
    rCSI 9.13%
    PRS 98.8
  • epithelial cell of proximal tubule CL0002306
    CSI 6.07
    rCSI 14.83%
    PRS 97.63
  • medium spiny neuron CL1001474
    CSI 6.06
    rCSI 52.25%
    PRS 97.26
  • retinal cone cell CL0000573
    CSI 5.91
    rCSI 9.51%
    PRS 97.44
  • neural progenitor cell CL0011020
    CSI 5.35
    rCSI 23.54%
    PRS 95.7
  • diffuse bipolar 3b cell CL4033030
    CSI 5.09
    rCSI 33.79%
    PRS 96.57
  • serotonergic neuron CL0000850
    CSI 4.87
    rCSI 21.77%
    PRS 94.85
  • dopaminergic neuron CL0000700
    CSI 4.84
    rCSI 27.34%
    PRS 96.64
  • glial cell CL0000125
    CSI 4.45
    rCSI 16.96%
    PRS 97.42
  • glycinergic amacrine cell CL4030028
    CSI 4
    rCSI 10.41%
    PRS 97.02
  • retinal pigment epithelial cell CL0002586
    CSI 3.96
    rCSI 7.87%
    PRS 98.39
  • OFFx cell CL4033036
    CSI 3.59
    rCSI 16.9%
    PRS 95.51
  • hepatocyte CL0000182
    CSI 3.37
    rCSI 6.03%
    PRS 98.51
  • ON midget ganglion cell CL4033046
    CSI 3.22
    rCSI 65.49%
    PRS 96.97
  • OFF midget ganglion cell CL4033047
    CSI 3.17
    rCSI 64.62%
    PRS 96.97
  • amacrine cell CL0000561
    CSI 3.01
    rCSI 8.72%
    PRS 97.37
  • macroglial cell CL0000126
    CSI 2.88
    rCSI 7.4%
    PRS 98.19
  • diffuse bipolar 3a cell CL4033029
    CSI 2.85
    rCSI 19.39%
    PRS 96.17
  • cerebellar neuron CL1001611
    CSI 2.79
    rCSI 24.55%
    PRS 95.54
  • direct pathway medium spiny neuron CL4023026
    CSI 2.73
    rCSI 65.44%
    PRS 95.83
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.7
    rCSI 65.23%
    PRS 95.74
  • parietal epithelial cell CL1000452
    CSI 2.63
    rCSI 7.04%
    PRS 98.59
  • basket cell CL0000118
    CSI 2.43
    rCSI 15.24%
    PRS 93.03
  • diffuse bipolar 6 cell CL4033032
    CSI 2.33
    rCSI 12.26%
    PRS 95.51
  • flat midget bipolar cell CL4033033
    CSI 2.3
    rCSI 16.45%
    PRS 95.87
  • diffuse bipolar 1 cell CL4033027
    CSI 2
    rCSI 15.05%
    PRS 95.29
  • H1 horizontal cell CL0004217
    CSI 1.96
    rCSI 7.78%
    PRS 97.21
  • H2 horizontal cell CL0004218
    CSI 1.96
    rCSI 9.75%
    PRS 97.52
  • invaginating midget bipolar cell CL4033034
    CSI 1.69
    rCSI 9.98%
    PRS 96.11
  • diffuse bipolar 2 cell CL4033028
    CSI 1.55
    rCSI 12.03%
    PRS 96.25
  • midbrain dopaminergic neuron CL2000097
    CSI 1.48
    rCSI 9.49%
    PRS 97.07

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.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [SCN8A](/details-gene/6334) is a protein-coding gene located on chromosome 12q13.13 that encodes the alpha subunit of the voltage-gated sodium channel Nav1.6. This channel is a critical component for the generation and propagation of action potentials in excitable cells. Consistent with this function, [SCN8A](/details-gene/6334) shows exceptionally high and specific expression across a wide range of neuronal subtypes, including both GABAergic interneurons and glutamatergic projection neurons. Functionally, it is integral to processes such as '[neuronal action potential](/details-cell/GO:0019228)', '[axon guidance](/details-pathway/R-HSA-422475)', and '[nervous system development](/details-pathway/R-HSA-9675108)'. Mutations in [SCN8A](/details-gene/6334) are clinically associated with severe neurological disorders, including developmental and epileptic encephalopathies and ataxia ([600702](https://omim.org/entry/600702)), as identified in multiple studies ([Link](https://doi.org/10.1016/j.ajhg.2012.01.006), [Link](https://doi.org/10.1177/0883073813511300)). ## Cellular Roles and Expression Landscape The expression profile of [SCN8A](/details-gene/6334) firmly establishes it as a cornerstone gene in the central nervous system. **Overall**, the gene exhibits its highest significance in a diverse array of cortical inhibitory interneurons. These include [pvalb GABAergic cortical interneuron](/details-cell/CL4023018) (CSI: 48.37), [VIP GABAergic cortical interneuron](/details-cell/CL4023016) (CSI: 45.46), and [sst GABAergic cortical interneuron](/details-cell/CL4023017) (CSI: 41.79), highlighting its crucial role in regulating cortical circuit inhibition. Concurrently, [SCN8A](/details-gene/6334) is also highly significant in excitatory glutamatergic neurons, such as [L2/3 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4030059) (CSI: 28.92) and [L4 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4030063) (CSI: 23.41). Its prominence extends to other key neuronal populations like the [retinal ganglion cell](/details-cell/CL0000740) and [cerebellar granule cell](/details-cell/CL0001031). This broad yet specific expression pattern across both inhibitory and excitatory circuits underscores its fundamental role in maintaining electrochemical signaling and network stability in the brain. While primarily neuronal, evidence suggests that a splice variant of [SCN8A](/details-gene/6334) may regulate podosome formation in macrophages, indicating potential context-dependent roles in non-neuronal cells ([Link](https://doi.org/10.1074/jbc.m801892200)). ## Pathways and Molecular Function The molecular function of [SCN8A](/details-gene/6334) is centered on its role as a voltage-gated ion channel. Gene Ontology annotations confirm its involvement in '[voltage-gated sodium channel activity](/details-cell/GO:0005248)' and '[sodium ion transmembrane transport](/details-cell/GO:0035725)'. This activity directly enables the biological process of '[action potential](/details-cell/GO:0001508)' propagation. Its cellular localization is critical to this function, with the protein being a key component of the '[voltage-gated sodium channel complex](/details-cell/GO:0001518)' found at essential neuronal structures like the '[axon initial segment](/details-cell/GO:0043194)' and '[node of ranvier](/details-cell/GO:0033268)', which are sites of action potential initiation and saltatory conduction, respectively. Reactome pathway analysis further contextualizes its role within broader physiological systems. It is a key player in '[Nervous system development](/details-pathway/R-HSA-9675108)' and '[Axon guidance](/details-pathway/R-HSA-422475)'. Beyond the central nervous system, [SCN8A](/details-gene/6334) contributes to '[Cardiac conduction](/details-pathway/R-HSA-5576891)' and '[Muscle contraction](/details-pathway/R-HSA-397014)', reflecting its importance in maintaining excitability in other tissues. The structural basis for its function has been elucidated through cryo-EM studies, providing detailed insights into its architecture and ion selectivity ([Link](https://doi.org/10.1073/pnas.2220578120), [Link](https://doi.org/10.1038/s41467-023-36766-9)). ## Research Directions Given that gain-of-function mutations in [SCN8A](/details-gene/6334) are a primary cause of severe epileptic encephalopathies, future research should focus on the cell-type-specific consequences of these mutations and the potential for targeted therapeutic intervention. **Testable Hypotheses:** 1. Since [SCN8A](/details-gene/6334) is highly expressed in diverse inhibitory interneurons, pathogenic gain-of-function mutations may paradoxically lead to network hyperexcitability not just by increasing firing in excitatory neurons, but by driving inhibitory neurons into depolarization block, thereby causing a net loss of inhibition in cortical circuits. 2. The reported expression of an [SCN8A](/details-gene/6334) splice variant in macrophages ([Link](https://doi.org/10.1074/jbc.m801892200)) suggests a novel role in neuroinflammation. We hypothesize that under conditions of brain injury or disease, expression of this non-canonical variant is upregulated in microglia/macrophages, where it modulates cellular motility and phagocytic activity by altering local ion gradients. **Proposed Experimental Approach:** To test the first hypothesis regarding the paradoxical effect of [SCN8A](/details-gene/6334) mutations on inhibitory interneurons, one could utilize patient-derived induced pluripotent stem cells (iPSCs) differentiated into cortical organoids or specific neuronal subtypes (e.g., PVALB+ interneurons). Using patch-clamp electrophysiology, one can compare the firing properties of interneurons carrying a pathogenic [SCN8A](/details-gene/6334) mutation with isogenic, CRISPR-corrected controls. This would directly assess whether mutant interneurons are more susceptible to depolarization block under sustained stimulation, providing a cellular mechanism for circuit disinhibition in [SCN8A](/details-gene/6334)-related epilepsy. **Therapeutic Potential:** As a voltage-gated ion channel whose gain-of-function mutations drive disease, [SCN8A](/details-gene/6334) is a prime candidate for therapeutic **inhibition**. The development of small molecule inhibitors or antisense oligonucleotides (ASOs) that specifically target and reduce the activity or expression of the Nav1.6 channel represents a promising strategy. The primary challenge is achieving specificity for Nav1.6 over other sodium channel subtypes to minimize off-target effects, particularly in the heart and peripheral nervous system. State-dependent blockers, which preferentially bind to the channel's open or inactivated states, could offer a way to selectively dampen the activity of hyperactive neurons characteristic of epileptic states while sparing normal physiological function.

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