SCN8A Gene
protein-coding GIFtS: 59
GCID: GC12P051987
|
|
sodium channel, voltage gated, type VIII, alpha subunit(Previous names: sodium channel, voltage gated, type VIII, alpha polypeptide...)
(Previous symbol: MED)
| |
Aliases
for SCN8A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Sodium Channel, Voltage Gated, Type VIII, Alpha Subunit1 2 | | Sodium Channel, Voltage Gated, Type VIII, Alpha Polypeptide1 | | MED1 2 3 | | CERIII2 | | NaCh61 2 | | CIAT2 | | Nav1.61 2 | | EIEE132 | | PN41 2 | | HNa6/Scn8a Voltage-Gated Sodium Channel2 | | Voltage-Gated Sodium Channel Subunit Alpha Nav1.62 3 | | Sodium Channel Protein Type 8 Subunit Alpha2 | | CerIII1 | | Sodium Channel Protein Type VIII Subunit Alpha3 |
Export aliases for SCN8A gene to outside databasesPrevious GC identifers: GC12M052742 GC12P052007 GC12P051701 GC12P050271 GC12P049089 |
Summaries
for SCN8A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SCN8A:
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion poreregion of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization thatoccurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated withmental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcriptvariants.(provided by RefSeq, May 2010)
UniProtKB/Swiss-Prot: SCN8A_HUMAN, Q9UQD0Function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closedconformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channelthrough which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanomacells, isoform 5 may participate in the control of podosome and invadopodia formation
 summary
for SCN8A: Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in
excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low
levels in non-excitable cells, where their physiological role is unclear. Structurally, Nav channels are
composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits.
alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments.
The fourth transmembrane loop (S4) acts as the 'voltage sensor' and is activated by changes in membrane
potential. S4 is also involved in channel gating.
Gene Wiki entry for SCN8A
|
Genomic Views
for SCN8A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SCN8A gene promoter:
TBP p53 AP-1 ATF-2 TFIID c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for SCN8A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCN8A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13.1SCN8A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P051987: view genomic region
(about GC identifiers)
Start:
|
51,984,050 bp from pter |
End:
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52,202,307 bp from pter |
Size:
|
218,258 bases |
Orientation:
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plus strand |
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Proteins
for SCN8A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SCN8A_HUMAN, Q9UQD0 (See
protein sequence)Recommended Name: Sodium channel protein type 8 subunit alpha Size: 1980 amino acids; 225280 Da
Subunit: Interacts with NEDD4 and NEDD4L (By similarity). Interacts with FGF13; may regulate SCN8A activity
Subcellular location: Membrane; Multi-pass membrane protein
Subcellular location: Isoform 5: Cytoplasmic vesicle. Note=Some vesicles are localized adjacent to melanoma invadopodiaand macrophage podosomes. Does not localize to the plasma membrane
Secondary accessions: B9VWG8 O95788 Q9NYX2 Q9UPB2Alternative splicing: 5 isoforms: Q9UQD0-1 Q9UQD0-2 Q9UQD0-3 Q9UQD0-4 Q9UQD0-5 Explore the universe of human proteins at neXtProt for SCN8A: NX_Q9UQD0
Post-translational modifications:
May be ubiquitinated by NEDD4L; which would promote its endocytosis (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UQD0
SCN8A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001171455.1 NP_055006.1
ENSEMBL proteins: ENSP00000448415 ENSP00000346534 ENSP00000347255 ENSP00000447567 ENSP00000440360 Reactome Protein details: Q9UQD0
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
SCN8A for ontologies About GeneDecksing
SCN8A Antibody Products:
Assay Products for SCN8A: |
Protein
Domains /
Families
for SCN8A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SCN8A for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q9UQD0ProtoNet protein and cluster: Q9UQD0 3 Blocks protein families: IPB000048 IQ calmodulin-binding region IPB001696 Voltage-gated Na+ channel alpha subunit signature IPB008054 Voltage-gated Na+ channel alpha 8 subunit signature
UniProtKB/Swiss-Prot: SCN8A_HUMAN, Q9UQD0Domain: The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positivelycharged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positivelycharged amino acids at every third positionSimilarity: Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamilySimilarity: Contains 1 IQ domain |
Function
for SCN8A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SCN8A_HUMAN, Q9UQD0Function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closedconformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channelthrough which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanomacells, isoform 5 may participate in the control of podosome and invadopodia formation Genatlas biochemistry entry for SCN8A:sodium voltage-gated channel,type VIII,alpha polypeptide,with two alternative spliced isoforms,expressed in brain andspinal cord,homolog to the Scn8a murine gene,mutated in motor end-plate disease
Clone
Products: |  | EMD Millipore Clones for the Expression of SCN8A | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCN8A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCN8A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SCN8A (NM_001177984) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SCN8A | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SCN8A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN8A |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
SCN8A for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for SCN8A:
Animal Models:
13 MGI mutant phenotypes (inferred from 16 alleles ) (MGI details for Scn8a):
SCN8A for phenotypes About GeneDecksing
|
Pathways & Interactions
for SCN8A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Axon guidance | | | 2 | Activation of cAMP-Dependent PKA | | | 3 | Neuropathic Pain-Signaling in Dorsal Horn Neurons | | | 4 | Interaction between L1 and Ankyrins | | | 5 | Sodium channels and transporters: inward current | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for SCN8A
5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SCN8A (see all 7)
4 
Reactome Pathways for SCN8A
SCN8A for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SCN8A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 17)
5/21 Interacting proteins for SCN8A (Q9UQD03 ENSP000003465344) via UniProtKB, MINT, STRING, and/or I2D (see all 21)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
SCN8A for ontologies About GeneDecksing
|
Drugs & Compounds
for SCN8A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SCN8A for compounds About GeneDecksing
Compounds for SCN8A available from Tocris Bioscience About this table
1 HMDB Compound for SCN8A About this table
2 Novoseek chemical compound relationships for SCN8A gene About this table
Search CenterWatch for drugs/clinical trials and news about SCN8A
|
Transcripts
for SCN8A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SCN8A gene (3 alternative transcripts): NM_001177984.2 NM_014191.3 NM_175894.2 Unigene Clusters for SCN8A: Sodium channel, voltage gated, type VIII, alpha subunit Hs.436550 [show with all ESTs], Hs.710638 Unigene Representative Sequences: NM_014191, AY5100837 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000546961 ENST00000550891(uc001ryz.1 uc001ryy.2) ENST00000354534(uc001ryw.3)
ENST00000355133(uc001ryx.1 uc001rza.1) ENST00000551216 ENST00000548086
ENST00000545061(uc010snl.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCN8A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCN8A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): SCN8A (NM_001177984) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SCN8A | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SCN8A |
Additional cDNA sequence: AY510083.1 7 DOTS entries: DT.75119846 DT.443729 DT.100745517 DT.91983673 DT.121176224 DT.75139908 DT.121176238 24/40 AceView cDNA sequences (see all 40): AJ277395 CB529722 AI348374 AY682081 AJ276142 NM_014191 AJ310898 AJ310885 AB027567 BM929799 AJ276141 AJ310884 BG761119 AY682083 BV199074 BM684843 AI131238 AF225988 BX497885 AY682082 W96187 AA047806 BF947129 AU252700
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for SCN8A About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22a | · |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | |
| ExUns: | 22b | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 |
|---|
|
| SP1: | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | |
ECgene alternative splicing isoforms for SCN8A
|
Expression
for SCN8A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SCN8A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTACTTTAC
About this image
See SCN8A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SCN8A
SOURCE GeneReport for Unigene clusters: Hs.436550 Hs.710638
UniProtKB/Swiss-Prot: SCN8A_HUMAN, Q9UQD0Tissue specificity: Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages
SABiosciences Expression via Pathway-Focused PCR Array including SCN8A:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SCN8A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SCN8A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SCN8A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SCN8A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN8A |
Orthologs
for SCN8A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for SCN8A gene from 4/16 species (see all 16) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
SCN8A1 |
sodium channel, voltage gated, type VIII, alpha subunit |
83.91(n)
94.33(a) |
|
426869 XM_003643113.1 XP_003643161.1 |
lizard
(Anolis carolinensis) |
Reptilia |
SCN8A6 |
-- |
93(a) |
1 ↔ 1 |
2(90865054-90950950) |
zebrafish
(Danio rerio) |
Actinopterygii |
scn8a2 |
sodium channel, voltage-gated, type VIII, alpha polypeptide |
79.12(n) |
|
58152 AF297658.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
NaCP60E3 |
sodium ion transport voltage-gated sodium
channel |
63(a)
(best of 2) |
|
60E5 -- |
ENSEMBL Gene Tree for SCN8A (if available)
TreeFam Gene Tree for SCN8A (if available) |
Paralogs
for SCN8A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SCN8A gene
- CACNA1A2 SCN9A2 SCN5A2 CACNA1D2 CACNA1I2 SCN7A2 CACNA1F2 CACNA1G2
- SCN10A2 SCN3A2 CACNA1E2 SCN2A2 CACNA1S2 CACNA1C2 CACNA1H2 SCN11A2
- SCN4A2 SCN1A2 CACNA1B2
12 SIMAP similar genes for SCN8A using alignment to 10 protein entries: SCN8A_HUMAN (see all proteins):SCN3A SCN2A SCN1A SCN2A2 SCN9A SCN5A
SCN4A SCN10A SCN7A SCN11A CACNA1H TPCN1
SCN8A for paralogs About GeneDecksing
|
Genomic Variants
for SCN8A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SCN8A (51984050 - 52202307 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SCN8A: --
Human Gene Mutation Database (HGMD): SCN8A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SCN8A |
|
Disorders
/ Diseases
for SCN8A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SCN8A for disorders About GeneDecksing
OMIM gene information: 600702
OMIM disorders: --
UniProtKB/Swiss-Prot: SCN8A_HUMAN, Q9UQD0
Defects in SCN8A are the cause of cognitive impairment with or without cerebellar ataxia (CIAT) [MIM:614306].A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, andcerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus onhorizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes Defects in SCN8A are the cause of epileptic encephalopathy, early infantile, type 13 (EIEE13) [MIM:614558]. Aform of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG findingof suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases.Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotordevelopment, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features ofautism, intellectual disability, ataxia, and sudden unexplained death in epilepsy
20/31  diseases for SCN8A (see all 31): About MalaCardscerebellar atrophy, ataxia, and mental retardation generalized epilepsy with febrile seizures plus ataxia attention deficit hyperactivity disorder
febrile seizures long qt syndrome generalized epilepsy traumatic brain injury
brain injury amyotrophic lateral sclerosis essential tremor lateral sclerosis
myotonia pulpitis erythromelalgia tremor
amblyopia cerebellar ataxia neuronitis seizures
1 disease from the University of Copenhagen DISEASES database for SCN8A:Epilepsy syndrome 2 Novoseek disease relationships for SCN8A gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| neurological disorders |
42.4 |
3 |
11496924 (2), 15619959 (1) |
| paralysis |
41.5 |
2 |
9392583 (1), 11496924 (1) |
Human Genome Epidemiology (HuGE) Navigator: SCN8A (7 documents)
Export disorders for SCN8A gene to outside databases
|
Publications
for SCN8A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SCN8A gene, integrated from 9 sources (see all 50):
(articles sorted by number of sources associating them with SCN8A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. (PubMed id 9828131)1, 2, 3 Plummer N.W.... Meisler M.H. (1998)
- Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. (PubMed id 7670495)1, 3, 9 Burgess D.L....Meisler M.H. (1995)
- Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A. (PubMed id 19136557)1, 2, 9 Carrithers M.D.... Waxman S.G. (2009)
- De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP. (PubMed id 22365152)1, 2 Veeramah K.R.... Hammer M.F. (2012)
- International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. (PubMed id 16382098)1, 3 Catterall W.A....Waxman S.G. (2005)
- Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons. (PubMed id 15282281)1, 2 Wittmack E.K....Dib-Hajj S.D. (2004)
- Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. (PubMed id 9295353)1, 2 Plummer N.W.... Meisler M.H. (1997)
- Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. (PubMed id 18718804)1, 9 Sharkey L.M....Meisler M.H. (2008)
- Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter. (PubMed id 15676283)1, 9 Drews V.L....Meisler M.H. (2005)
- Overexpression of NaV 1.6 channels is associated with the invasion capacity of human cervical cancer. (PubMed id 21630263)1 Hernandez-Plata E....Gomora J.C. (2012)
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External Searches for SCN8A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing SCN8A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SCN8A gene
(According to HUGE)
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Specialized Databases showing SCN8A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for SCN8A | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for SCN8A gene:
Search GeneIP for patents involving SCN8A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for SCN8A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SCN8A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SCN8A | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SCN8A | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SCN8A | | OriGene 3'-UTR Clone for SCN8A | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCN8A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCN8A | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SCN8A | | OriGene Custom Protein Services for SCN8A | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SCN8A | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SCN8A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCN8A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SCN8A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SCN8A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SCN8A |
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| | | | Tocris compounds for SCN8A |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN8A |
|  |  |  | | | | Search ThermoFisher Antibodies for SCN8A |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SCN8A |
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