Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SCN8A Gene

Aliases for SCN8A Gene

  • Sodium Voltage-Gated Channel Alpha Subunit 8 2 3 5
  • Sodium Channel, Voltage Gated, Type VIII, Alpha Subunit 2 3
  • Voltage-Gated Sodium Channel Subunit Alpha Nav1.6 3 4
  • Sodium Channel Protein Type 8 Subunit Alpha 3 4
  • MED 3 4
  • Sodium Channel, Voltage Gated, Type VIII, Alpha Polypeptide 2
  • Sodium Channel, Voltage Gated, Type VIII Alpha Subunit 2
  • Voltage-Gated Sodium Channel Type VIII Alpha Protein 3
  • Sodium Channel Protein Type VIII Subunit Alpha 4
  • HNa6/Scn8a Voltage-Gated Sodium Channel 3
  • CERIII 3
  • EIEE13 3
  • MYOCL2 3
  • Nav1.6 3
  • BFIS5 3
  • NaCh6 3
  • CIAT 3
  • PN4 3

External Ids for SCN8A Gene

Previous HGNC Symbols for SCN8A Gene

  • MED

Previous GeneCards Identifiers for SCN8A Gene

  • GC12M052742
  • GC12P052007
  • GC12P051701
  • GC12P050271
  • GC12P049089
  • GC12P051987

Summaries for SCN8A Gene

Entrez Gene Summary for SCN8A Gene

  • This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

CIViC summary for SCN8A Gene

GeneCards Summary for SCN8A Gene

SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8) is a Protein Coding gene. Diseases associated with SCN8A include Epileptic Encephalopathy, Early Infantile, 13 and Seizures, Benign Familial Infantile, 5. Among its related pathways are Cardiac conduction and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCN2A.

UniProtKB/Swiss-Prot for SCN8A Gene

  • Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.

Tocris Summary for SCN8A Gene

  • 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.

Gene Wiki entry for SCN8A Gene

Additional gene information for SCN8A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN8A Gene

Genomics for SCN8A Gene

GeneHancer (GH) Regulatory Elements for SCN8A Gene

Promoters and enhancers for SCN8A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J051590 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 614.2 +1.4 1408 3.2 CTCF ZNF121 ZSCAN21 ZBTB7A YY1 SP7 KLF14 EGR1 GLIS2 POLR2A SCN8A PIR42272
GH12J051528 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 600.2 -61.2 -61233 3.1 MNT SP1 ZKSCAN1 CTCF SCN8A GALNT6 GC12P051516 PIR34472 GC12M051574
GH12J051662 Promoter 1 EPDnew 600.2 +72.6 72572 0.1 KAT8 ZNF205 YY1 SAP130 JUND ZNF792 KLF9 MBD1 REST DMAP1 PIR42272 SCN8A
GH12J051568 Promoter 0.5 EPDnew 600.3 -21.9 -21928 0.1 SCN8A GC12M051574 GC12P051516 PIR34472
GH12J051398 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 7.8 -187.1 -187081 10.2 ZNF121 SP7 PRDM1 MZF1 POLR2A PKNOX1 ZBTB8A PRDM10 ZEB2 ZNF639 GALNT6 HIGD1C SCN8A ENSG00000271065 SLC4A8 METTL7A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCN8A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCN8A gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • p53
  • TBP
  • TFIID

Genomic Locations for SCN8A Gene

Genomic Locations for SCN8A Gene
chr12:51,590,193-51,812,864
(GRCh38/hg38)
Size:
222,672 bases
Orientation:
Plus strand
chr12:51,984,050-52,206,648
(GRCh37/hg19)
Size:
222,599 bases
Orientation:
Plus strand

Genomic View for SCN8A Gene

Genes around SCN8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN8A Gene

Proteins for SCN8A Gene

  • Protein details for SCN8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQD0-SCN8A_HUMAN
    Recommended name:
    Sodium channel protein type 8 subunit alpha
    Protein Accession:
    Q9UQD0
    Secondary Accessions:
    • B9VWG8
    • O95788
    • Q9NYX2
    • Q9UPB2

    Protein attributes for SCN8A Gene

    Size:
    1980 amino acids
    Molecular mass:
    225280 Da
    Quaternary structure:
    • The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1 (SCN1B), beta-2 (SCN2B), beta-3 (SCN3B) and/or beta-4 (SCN4B). Beta-1 (SCN1B) and beta-3 (SCN3B) are non-covalently associated with alpha, while beta-2 (SCN2B) and beta-4 (SCN4B) are covalently linked by disulfide bonds. Interacts with NEDD4 and NEDD4L (By similarity). Interacts with FGF13. Interacts with FGF14, GBG3, GBB2 and SCN1B (PubMed:26900580). Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the spider beta/delta-theraphotoxin-Pre1a (PubMed:28428547).

    Alternative splice isoforms for SCN8A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN8A Gene

Post-translational modifications for SCN8A Gene

  • May be ubiquitinated by NEDD4L; which would promote its endocytosis.
  • Phosphorylation at Ser-1497 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.
  • Glycosylation at isoforms=2, 3, 51383, posLast=295295, isoforms=2, 3, 51372, posLast=289289, posLast=215215, isoforms=2, 3, 51358, posLast=326326, and isoforms=2, 3, 4, 5308
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SCN8A_HUMAN (1754)

No data available for DME Specific Peptides for SCN8A Gene

Domains & Families for SCN8A Gene

Gene Families for SCN8A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for SCN8A Gene

GenScript: Design optimal peptide antigens:
  • Voltage-gated sodium channel Nav1.6 (Q6B4S2_HUMAN)
  • Voltage-gated sodium channel Nav1.6 (Q6B4S3_HUMAN)
  • Voltage-gated sodium channel Nav1.6 (Q6B4S4_HUMAN)
  • Nav1.6 (Q8WWN3_HUMAN)
  • Voltage-gated sodium channel (Q9GZR0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UQD0

UniProtKB/Swiss-Prot:

SCN8A_HUMAN :
  • The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily.
Domain:
  • The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily.
genes like me logo Genes that share domains with SCN8A: view

Function for SCN8A Gene

Molecular function for SCN8A Gene

UniProtKB/Swiss-Prot Function:
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.
GENATLAS Biochemistry:
sodium voltage-gated channel,type VIII,alpha polypeptide,with two alternative spliced isoforms,expressed in brain and spinal cord,homolog to the Scn8a murine gene,mutated in motor end-plate disease

Phenotypes From GWAS Catalog for SCN8A Gene

Gene Ontology (GO) - Molecular Function for SCN8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005248 voltage-gated sodium channel activity IBA,NAS 9828131
GO:0005272 sodium channel activity IEA --
GO:0005515 protein binding IPI 22364545
genes like me logo Genes that share ontologies with SCN8A: view
genes like me logo Genes that share phenotypes with SCN8A: view

Human Phenotype Ontology for SCN8A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SCN8A - Now 50% OFF >
  • * SCN8A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SCN8A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SCN8A Gene

Localization for SCN8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN8A Gene

Cell membrane; Multi-pass membrane protein.
Isoform 5: Cytoplasmic vesicle. Note=Some vesicles are localized adjacent to melanoma invadopodia and macrophage podosomes. Does not localize to the plasma membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCN8A gene
Compartment Confidence
plasma membrane 4
nucleus 1
cytosol 0

Gene Ontology (GO) - Cellular Components for SCN8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IBA,IC 9828131
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 9828131
GO:0030018 Z disc ISS --
genes like me logo Genes that share ontologies with SCN8A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCN8A Gene

Pathways & Interactions for SCN8A Gene

genes like me logo Genes that share pathways with SCN8A: view

Pathways by source for SCN8A Gene

SIGNOR curated interactions for SCN8A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SCN8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport NAS 9828131
GO:0007399 nervous system development TAS 9828131
GO:0007422 peripheral nervous system development ISS --
GO:0019228 neuronal action potential IBA 21873635
genes like me logo Genes that share ontologies with SCN8A: view

Drugs & Compounds for SCN8A Gene

(15) Drugs for SCN8A Gene - From: DrugBank, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Brivaracetam Approved, Investigational Pharma Target, inhibitor ligand for SV2A, selective and high-affinity 38
Dichlorobenzyl alcohol Approved Pharma Target, antagonist 0
Valproic Acid Approved, Investigational Pharma Target, inhibitor HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 351
Safinamide Approved, Investigational Pharma inhibitor MAO-B inhibitor 0
Carbamazepine Approved, Investigational Pharma Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 103

(3) Additional Compounds for SCN8A Gene - From: IUPHAR, Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
beta-scorpion toxin Cn2
Activator
Amiloride hydrochloride
2016-88-8

(3) Tocris Compounds for SCN8A Gene

Compound Action Cas Number
Amiloride hydrochloride Na+ channel blocker; also I2 imidazoline ligand 2016-88-8
Carbamazepine Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 298-46-4
Vinpocetine Na+ channel blocker 42971-09-5
genes like me logo Genes that share compounds with SCN8A: view

Transcripts for SCN8A Gene

Unigene Clusters for SCN8A Gene

Sodium channel, voltage gated, type VIII, alpha subunit:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SCN8A - Now 50% OFF >
  • * SCN8A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SCN8A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for SCN8A Gene

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:

Relevant External Links for SCN8A Gene

GeneLoc Exon Structure for
SCN8A
ECgene alternative splicing isoforms for
SCN8A

Expression for SCN8A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCN8A Gene

mRNA differential expression in normal tissues according to GTEx for SCN8A Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.8), Brain - Cerebellar Hemisphere (x6.2), Brain - Cerebellum (x4.9), and Brain - Anterior cingulate cortex (BA24) (x4.9).

Protein differential expression in normal tissues from HIPED for SCN8A Gene

This gene is overexpressed in Frontal cortex (44.1), Adipocyte (12.4), and Platelet (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SCN8A Gene



Protein tissue co-expression partners for SCN8A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCN8A Gene:

SCN8A

SOURCE GeneReport for Unigene cluster for SCN8A Gene:

Hs.436550

mRNA Expression by UniProt/SwissProt for SCN8A Gene:

Q9UQD0-SCN8A_HUMAN
Tissue specificity: Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages.

Evidence on tissue expression from TISSUES for SCN8A Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN8A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SCN8A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SCN8A Gene

Orthologs for SCN8A Gene

This gene was present in the common ancestor of animals.

Orthologs for SCN8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN8A 34
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia SCN8A 35 34
  • 95.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SCN8A 35 34
  • 94.43 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Scn8a 34
  • 90.71 (n)
mouse
(Mus musculus)
Mammalia Scn8a 17 35 34
  • 90.07 (n)
chicken
(Gallus gallus)
Aves SCN8A 35 34
  • 83.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCN8A 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731347 34
  • 77.15 (n)
zebrafish
(Danio rerio)
Actinopterygii scn8aa 35
  • 84 (a)
OneToMany
scn8ab 35 34
  • 75.98 (n)
OneToMany
scn8a 34
fruit fly
(Drosophila melanogaster)
Insecta NaCP60E 36
  • 63 (a)
para 36
  • 45 (a)
Species where no ortholog for SCN8A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCN8A Gene

ENSEMBL:
Gene Tree for SCN8A (if available)
TreeFam:
Gene Tree for SCN8A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SCN8A: view image

Paralogs for SCN8A Gene

(12) SIMAP similar genes for SCN8A Gene using alignment to 10 proteins:

  • SCN8A_HUMAN
  • F8VRN5_HUMAN
  • F8VWM7_HUMAN
  • F8W0Q0_HUMAN
  • Q6B4S2_HUMAN
  • Q6B4S3_HUMAN
  • Q6B4S4_HUMAN
  • Q8WWN3_HUMAN
  • Q9GZR0_HUMAN
  • Q9P2Q6_HUMAN
genes like me logo Genes that share paralogs with SCN8A: view

Variants for SCN8A Gene

Sequence variations from dbSNP and Humsavar for SCN8A Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1029149299 uncertain-significance, not-provided, not specified, not provided 51,687,155(+) A/G coding_sequence_variant, missense_variant
rs1057518487 likely-pathogenic, uncertain-significance, not provided, not specified 51,688,775(+) T/C coding_sequence_variant, intron_variant, missense_variant
rs1057518667 likely-pathogenic, Early infantile epileptic encephalopathy 13 51,789,402(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519540 likely-pathogenic, Epileptic encephalopathy, Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558] 51,768,895(+) A/G coding_sequence_variant, missense_variant
rs1057519557 uncertain-significance, Epileptic encephalopathy, Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558] 51,699,783(+) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SCN8A Gene

Variant ID Type Subtype PubMed ID
esv2020985 CNV deletion 18987734
esv2745886 CNV deletion 23290073
esv2745887 CNV deletion 23290073
esv3629507 OTHER inversion 21293372
esv3629508 CNV gain 21293372
esv3629509 CNV loss 21293372
esv3629510 CNV loss 21293372
nsv706 CNV deletion 18451855
nsv826373 CNV gain 20364138
nsv975488 CNV duplication 23825009
nsv983485 CNV duplication 23825009

Variation tolerance for SCN8A Gene

Residual Variation Intolerance Score: 0.645% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.17; 39.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCN8A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN8A
Human Gene Mutation Database (HGMD)
SCN8A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN8A Gene

Disorders for SCN8A Gene

MalaCards: The human disease database

(22) MalaCards diseases for SCN8A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SCN8A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCN8A_HUMAN
  • Cognitive impairment with or without cerebellar ataxia (CIAT) [MIM:614306]: A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. {ECO:0000269 PubMed:16236810}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of 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 psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. {ECO:0000269 PubMed:22365152, ECO:0000269 PubMed:23708187, ECO:0000269 PubMed:24352161, ECO:0000269 PubMed:24874546, ECO:0000269 PubMed:24888894, ECO:0000269 PubMed:25239001, ECO:0000269 PubMed:25568300, ECO:0000269 PubMed:25725044, ECO:0000269 PubMed:25785782, ECO:0000269 PubMed:25818041, ECO:0000269 PubMed:26900580, ECO:0000269 PubMed:26993267, ECO:0000269 PubMed:27210545, ECO:0000269 PubMed:27864847, ECO:0000269 PubMed:28923014}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seizures, benign familial infantile, 5 (BFIS5) [MIM:617080]: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant. {ECO:0000269 PubMed:26677014, ECO:0000269 PubMed:27210545}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SCN8A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SCN8A: view

No data available for Genatlas for SCN8A Gene

Publications for SCN8A Gene

  1. Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. (PMID: 18718804) Sharkey LM … Meisler MH (Parkinsonism & related disorders 2009) 3 23 45 58
  2. Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A. (PMID: 19136557) Carrithers MD … Waxman SG (The Journal of biological chemistry 2009) 3 4 23 58
  3. Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. (PMID: 9828131) Plummer NW … Meisler MH (Genomics 1998) 2 3 4 58
  4. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. (PMID: 7670495) Burgess DL … Meisler MH (Nature genetics 1995) 2 3 23 58
  5. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. (PMID: 28923014) Wang J … Yu S (BMC medical genetics 2017) 3 4 58

Products for SCN8A Gene

Sources for SCN8A Gene

Content
Loading form....