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SCN3A Gene(Protein Coding)

Sodium Voltage-Gated Channel Alpha Subunit 3

GCID:
GC02M165087
GIFtS:
53
Genes Participants
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Aliases for SCN3A Gene

Aliases for SCN3A Gene

  • Sodium Voltage-Gated Channel Alpha Subunit 3 2 3 5
  • Sodium Channel, Voltage-Gated, Type III, Alpha Polypeptide 2 3
  • Sodium Channel, Voltage Gated, Type III Alpha Subunit 2 3
  • Voltage-Gated Sodium Channel Subunit Alpha Nav1.3 3 4
  • Sodium Channel Protein Brain III Subunit Alpha 3 4
  • Sodium Channel Protein Type III Subunit Alpha 3 4
  • Voltage-Gated Sodium Channel Subtype III 3 4
  • NAC3 3 4
  • Sodium Channel, Voltage-Gated, Type III, Alpha Subunit 2
  • Sodium Channel Protein Type 3 Subunit Alpha 3
  • Brain III Voltage-Gated Sodium Channel 3
  • KIAA1356 4
  • Nav1.3 3

External Ids for SCN3A Gene

Previous GeneCards Identifiers for SCN3A Gene

  • GC02M163999
  • GC02M164485
  • GC02M165908
  • GC02M166146
  • GC02M165769
  • GC02M165652
  • GC02M157826

Summaries for SCN3A Gene

Entrez Gene Summary for SCN3A Gene

  • Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SCN3A Gene

SCN3A (Sodium Voltage-Gated Channel Alpha Subunit 3) is a Protein Coding gene. Diseases associated with SCN3A include Trigeminal Neuralgia and Deafness, Autosomal Dominant 16. 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 SCN3A 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.

Tocris Summary for SCN3A 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 SCN3A Gene

Additional gene information for SCN3A Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN3A Gene

Genomics for SCN3A Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SCN3A Gene

Promoters and enhancers for SCN3A 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
GH02I165203 Promoter/Enhancer 1.1 EPDnew Ensembl 550.8 +0.2 187 0.2 CTCF ZNF362 TRIM22 ARID4B ZNF384 RAD21 POLR2A ZNF444 RCOR1 MIXL1 GC02M165204 SCN3A GC02M165203 GC02M165149 SCN2A ENSG00000236283
GH02I165204 Promoter/Enhancer 1.1 EPDnew ENCODE 550.8 0.0 -18 0.2 CTCF ZNF654 ZNF362 TRIM22 ARID4B ZNF384 RAD21 POLR2A ZNF143 SMC3 GC02M165203 GC02M165204 SCN3A GC02P165274 GC02P165275 SCN2A ENSG00000236283
GH02I165196 Promoter 0.5 EPDnew 550.4 +7.5 7534 0.1 SCN3A SCN2A GC02M165149 ENSG00000236283
GH02I165067 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 9.6 +135.7 135717 0.9 MXI1 RFX1 BMI1 SP1 ZSCAN21 ZNF335 RFX3 POLR2A ZNF366 CTBP2 SCN3A CSRNP3 SCN2A GC02M165092 SLC38A11 ENSG00000236283
GH02I165239 Promoter/Enhancer 1.1 VISTA EPDnew 10.8 -36.3 -36314 2.2 CTCF MXI1 PKNOX1 ZNF654 TRIM22 MIER2 REST RAD21 POLR2A ZNF143 SCN2A SCN3A GC02P165274 GC02P165275 GC02M165204 GC02M165203
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SCN3A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCN3A gene promoter:

Genomic Locations for SCN3A Gene

Genomic Locations for SCN3A Gene
chr2:165,087,520-165,204,088
(GRCh38/hg38)
Size:
116,569 bases
Orientation:
Minus strand
chr2:165,944,030-166,060,577
(GRCh37/hg19)

Genomic View for SCN3A Gene

Genes around SCN3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN3A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SCN3A Gene

Proteins for SCN3A Gene

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  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SCN3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY46-SCN3A_HUMAN
    Recommended name:
    Sodium channel protein type 3 subunit alpha
    Protein Accession:
    Q9NY46
    Secondary Accessions:
    • Q16142
    • Q53SX0
    • Q9BZB3
    • Q9C006
    • Q9NYK2
    • Q9P2J1
    • Q9UPD1
    • Q9Y6P4

    Protein attributes for SCN3A Gene

    Size:
    2000 amino acids
    Molecular mass:
    226294 Da
    Quaternary structure:
    • Heterooligomer of a large alpha subunit and 2-3 smaller beta subunits. Heterooligomer with SCN2B or SCN4B; disulfide-linked. Interacts with NEDD4L (PubMed:15548568). Interacts with the conotoxin GVIIJ (PubMed:24497506).

    Alternative splice isoforms for SCN3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN3A Gene

Protein Expression for SCN3A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SCN3A Gene

  • May be ubiquitinated by NEDD4L; which would promote its endocytosis.
  • Phosphorylation at Ser-1501 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.
  • Glycosylation at isoforms=2211, isoforms=2, 3, 4290, posLast=296296, posLast=302302, isoforms=2, 3, 4307, posLast=339339, isoforms=2, 3, 41366, and posLast=13801380
  • Modification sites at PhosphoSitePlus

Other Protein References for SCN3A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SCN3A Gene

Domains & Families for SCN3A Gene

Gene Families for SCN3A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for SCN3A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SCN3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NY46

UniProtKB/Swiss-Prot:

SCN3A_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. Nav1.3/SCN3A 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. Nav1.3/SCN3A subfamily.
genes like me logo Genes that share domains with SCN3A: view

Function for SCN3A Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for SCN3A Gene

GENATLAS Biochemistry:
sodium voltage-gated channel,type III,alpha polypeptide,expressed in brain,encoding two isoforms (neonatal and adult)
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.

Phenotypes From GWAS Catalog for SCN3A Gene

Gene Ontology (GO) - Molecular Function for SCN3A 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 NAS 9589372
GO:0005272 sodium channel activity IEA --
genes like me logo Genes that share ontologies with SCN3A: view
genes like me logo Genes that share phenotypes with SCN3A: view

Animal Models for SCN3A Gene

MGI Knock Outs for SCN3A:

Animal Model Products

  • Taconic Biosciences Mouse Models for SCN3A

miRNA for SCN3A Gene

miRTarBase miRNAs that target SCN3A

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SCN3A Gene

Localization for SCN3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN3A Gene

Cell membrane; Multi-pass membrane protein.

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 SCN3A gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for SCN3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SCN3A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCN3A Gene

Pathways & Interactions for SCN3A Gene

genes like me logo Genes that share pathways with SCN3A: view

Gene Ontology (GO) - Biological Process for SCN3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport NAS 9589372
GO:0019228 neuronal action potential IBA --
GO:0034220 ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SCN3A: view

No data available for SIGNOR curated interactions for SCN3A Gene

Drugs & Compounds for SCN3A Gene

Products:

  1. Drug

(40) Drugs for SCN3A Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma Target, inhibitor, blocker Antiepileptic with anticonvulsant and mechanistic effect 69
Phenytoin Approved, Vet_approved Pharma Pore Blocker, Target 79
Brivaracetam Approved, Investigational Pharma Target, inhibitor ligand for SV2A, selective and high-affinity 0
Lacosamide Approved Pharma Target Checkpoint kinase inhibitor,ATP competitive, Checkpoint kinase (Chk) inhibitor 82
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333

(2) Additional Compounds for SCN3A Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
 7440-23-5

(3) Tocris Compounds for SCN3A 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

(26) ApexBio Compounds for SCN3A Gene

Compound Action Cas Number
A-803467 NaV1.8 channel blocker,potent and selective 944261-79-4
Ambroxol HCl TTX-resistant Na+ currents inhibitor 23828-92-4
Amiloride HCl 2016-88-8
Amiloride HCl dihydrate 17440-83-4
Benzocaine 1994-09-7
Bupivacaine HCl Anaesthetic drug 18010-40-7
Camostat Mesilate Trypsin-like protease inhibitor 59721-29-8
Carbamazepine 298-46-4
Dibucaine (Cinchocaine) HCl 1961-12-1
Ibutilide Fumarate Class III antiarrhythmic agent 122647-32-9
Lamotrigine 5-HT inhibitor 84057-84-1
Levobupivacaine HCl 27262-48-2
Mexiletine HCl 5370-01-4
Nefopam HCl 23327-57-3
Ouabain 630-60-4
Oxcarbazepine BTX inhibitor 28721-07-5
Phenytoin 57-41-0
Phenytoin sodium Sodium channel stabilizer 630-93-3
Primidone 125-33-7
Procainamide HCl 614-39-1
Procaine HCl 1951-05-8
Propafenone HCl 34183-22-7
Proparacaine HCl 5875-06-9
Riluzole Sodium channel protein inhibitor 1744-22-5
Tolperisone HCl 3644-61-9
Triamterene 396-01-0
genes like me logo Genes that share compounds with SCN3A: view

Drug Products

Transcripts for SCN3A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SCN3A Gene

(12) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(40) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SCN3A Gene

Sodium channel, voltage-gated, type III, alpha subunit:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCN3A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: -

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b · 26c ^ 27 ^ 28 ^ 29
SP1: -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:

Relevant External Links for SCN3A Gene

GeneLoc Exon Structure for
SCN3A
ECgene alternative splicing isoforms for
SCN3A

Expression for SCN3A Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCN3A Gene

mRNA expression in normal human tissues for SCN3A Gene
mRNA expression by GTEx for SCN3A GenemRNA expression by BioGPS for SCN3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCN3A Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.9) and Brain - Hypothalamus (x4.7).

Protein differential expression in normal tissues from HIPED for SCN3A Gene

This gene is overexpressed in Fetal Brain (37.6) and Breast (31.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCN3A Gene



Protein tissue co-expression partners for SCN3A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCN3A Gene:

SCN3A

SOURCE GeneReport for Unigene cluster for SCN3A Gene:

Hs.435274

Evidence on tissue expression from TISSUES for SCN3A Gene

  • Nervous system(4.6)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with SCN3A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN3A Gene

Orthologs for SCN3A Gene

This gene was present in the common ancestor of animals.

Orthologs for SCN3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SCN3A 33 34
  • 99.78 (n)
dog
(Canis familiaris)
 Mammalia SCN3A 33 34
  • 93.68 (n)
cow
(Bos Taurus)
 Mammalia SCN3A 33 34
  • 93.61 (n)
oppossum
(Monodelphis domestica)
 Mammalia SCN3A 34
  • 93 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Scn3a 33 16 34
  • 89.57 (n)
rat
(Rattus norvegicus)
 Mammalia Scn3a 33
  • 89.34 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SCN3A 34
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SCN3A 33 34
  • 83.02 (n)
lizard
(Anolis carolinensis)
 Reptilia SCN3A 34
  • 87 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100488621 33
  • 77.26 (n)
zebrafish
(Danio rerio)
 Actinopterygii scn1lab 34
  • 78 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta NaCP60E 35
  • 63 (a)
para 35
  • 50 (a)
Species where no ortholog for SCN3A 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)
  • 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 SCN3A Gene

ENSEMBL:
Gene Tree for SCN3A (if available)
TreeFam:
Gene Tree for SCN3A (if available)

Paralogs for SCN3A Gene

Variants for SCN3A Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SCN3A Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1057518801 likely-pathogenic, Developmental delay, Polymicrogyria, not provided 165,130,238(-) A/G coding_sequence_variant, missense_variant
rs797044933 pathogenic, Inborn genetic diseases 165,154,514(-) G/A 5_prime_UTR_variant, coding_sequence_variant, stop_gained
rs1057520753 pathogenic, not provided 165,097,493(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs140990288 conflicting-interpretations-of-pathogenicity, not specified 165,127,774(-) C/T coding_sequence_variant, missense_variant
rs146624492 conflicting-interpretations-of-pathogenicity, not specified 165,090,264(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SCN3A Gene

Variant ID Type Subtype PubMed ID
dgv2081n106 CNV deletion 24896259
dgv7153n54 CNV loss 21841781
dgv7154n54 CNV loss 21841781
dgv7155n54 CNV loss 21841781
esv2554394 CNV deletion 19546169
esv2585640 CNV deletion 19546169
esv25924 CNV loss 19812545
esv2666303 CNV deletion 23128226
esv2667791 CNV deletion 23128226
esv2673049 CNV deletion 23128226
esv2721067 CNV deletion 23290073
esv3335133 CNV insertion 20981092
esv3560470 CNV deletion 23714750
esv3593232 CNV loss 21293372
esv3593233 CNV loss 21293372
esv7053 CNV loss 19470904
esv8404 CNV gain 19470904
esv992100 CNV gain 20482838
nsv213574 CNV deletion 16902084
nsv435715 CNV deletion 17901297
nsv511183 CNV gain 21212237
nsv583561 CNV loss 21841781
nsv583564 CNV loss 21841781
nsv583578 CNV loss 21841781
nsv583582 CNV loss 21841781
nsv821783 CNV loss 20364138
nsv961524 CNV duplication 23825009
nsv963742 CNV duplication 23825009

Variation tolerance for SCN3A Gene

Residual Variation Intolerance Score: 0.831% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCN3A Gene

Human Gene Mutation Database (HGMD)
SCN3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN3A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN3A Gene

Disorders for SCN3A Gene

MalaCards: The human disease database

(7) MalaCards diseases for SCN3A Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
trigeminal neuralgia
  • tic douloureux
deafness, autosomal dominant 16
  • dfna16
focal epilepsy
  • localisation-related epilepsy
trigeminal nerve disease
  • trigeminal nerve diseases
epileptic encephalopathy, early infantile, 6
  • eiee6
- elite association - COSMIC cancer census association via MalaCards
Search SCN3A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SCN3A

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 SCN3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SCN3A Gene

Publications for SCN3A Gene

  1. Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit. (PMID: 9589372) Lu CM … Brown GB (Journal of molecular neuroscience : MN 1998) 2 3 4 58
  2. Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31. (PMID: 8159690) Malo MS … Ingram VM (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression. (PMID: 18784617) Kwan P … Baum L (Pharmacogenetics and genomics 2008) 3 44 58
  5. International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. (PMID: 16382098) Catterall WA … Waxman SG (Pharmacological reviews 2005) 2 3 58

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Sources for SCN3A Gene

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