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Aliases for SCN7A Gene

Aliases for SCN7A Gene

  • Sodium Voltage-Gated Channel Alpha Subunit 7 2 3 5
  • Sodium Channel Protein Cardiac And Skeletal Muscle Subunit Alpha 3 4
  • Putative Voltage-Gated Sodium Channel Subunit Alpha Nax 3 4
  • Sodium Channel, Voltage-Gated, Type VII, Alpha Subunit 2 3
  • Sodium Channel Protein Type VII Subunit Alpha 3 4
  • SCN6A 3 4
  • Sodium Channel, Voltage-Gated, Type VI, Alpha Polypeptide 3
  • Sodium Channel, Voltage Gated, Type VII Alpha Subunit 2
  • Sodium Channel, Voltage-Gated, Type VII, Alpha 2
  • Voltage-Dependent Sodium Channel Alpha Subunit 3
  • Sodium Channel, Voltage-Gated, Type VI, Alpha 2
  • Sodium Channel Protein Type 7 Subunit Alpha 3
  • Nav2.1 3
  • Nav2.2 3
  • NAG 3

External Ids for SCN7A Gene

Previous HGNC Symbols for SCN7A Gene

  • SCN6A

Previous GeneCards Identifiers for SCN7A Gene

  • GC02M165317
  • GC02M165803
  • GC02M167225
  • GC02M167464
  • GC02M167087
  • GC02M166970
  • GC02M159142

Summaries for SCN7A Gene

Entrez Gene Summary for SCN7A Gene

  • This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]

GeneCards Summary for SCN7A Gene

SCN7A (Sodium Voltage-Gated Channel Alpha Subunit 7) is a Protein Coding gene. Diseases associated with SCN7A include Normokalemic Periodic Paralysis and Hypokalemic Periodic Paralysis, Type 2. Among its related pathways are G-Beta Gamma Signaling and Cardiac conduction. GO annotations related to this gene include ion channel activity and sodium channel activity. An important paralog of this gene is SCN9A.

UniProtKB/Swiss-Prot for SCN7A 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.

Gene Wiki entry for SCN7A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN7A Gene

Genomics for SCN7A Gene

Regulatory Elements for SCN7A Gene

Enhancers for SCN7A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F166468 1.3 FANTOM5 Ensembl 5.5 +25.7 25658 0.8 ATF3 CEBPA CEBPB CEBPG YY1 SCN7A PIR53515
GH02F166485 0.6 ENCODE 4.6 +7.8 7797 2.3 CTCF SCRT2 RAD21 SCN9A SCN7A PIR53515
GH02F166493 0.2 ENCODE 0.8 -0.1 -66 1.3 MAZ MNT OSR2 ZFHX2 ZBTB48 SCRT2 ZNF341 ZNF547 EGR2 SCN9A SCN7A PIR55994
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SCN7A on UCSC Golden Path with GeneCards custom track

Promoters for SCN7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000601746 857 2799 MNT OSR2 ZFHX2 ZBTB48 ZNF341 ZNF547 SCRT2 EGR2

Genomic Location for SCN7A Gene

Chromosome:
2
Start:
166,403,468 bp from pter
End:
166,494,258 bp from pter
Size:
90,791 bases
Orientation:
Minus strand

Genomic View for SCN7A Gene

Genes around SCN7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN7A Gene

Proteins for SCN7A Gene

  • Protein details for SCN7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01118-SCN7A_HUMAN
    Recommended name:
    Sodium channel protein type 7 subunit alpha
    Protein Accession:
    Q01118

    Protein attributes for SCN7A Gene

    Size:
    1682 amino acids
    Molecular mass:
    193493 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SCN7A Gene

Post-translational modifications for SCN7A Gene

  • Glycosylation at Asn 276, Asn 281, Asn 309, Asn 1103, and Asn 1113
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SCN7A Gene

Domains & Families for SCN7A Gene

Suggested Antigen Peptide Sequences for SCN7A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q01118

UniProtKB/Swiss-Prot:

SCN7A_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. SCN7A 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. SCN7A subfamily.
genes like me logo Genes that share domains with SCN7A: view

No data available for Gene Families for SCN7A Gene

Function for SCN7A Gene

Molecular function for SCN7A 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.

Gene Ontology (GO) - Molecular Function for SCN7A 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 IEA,TAS --
GO:0005272 sodium channel activity IEA --
genes like me logo Genes that share ontologies with SCN7A: view
genes like me logo Genes that share phenotypes with SCN7A: view

Animal Models for SCN7A Gene

MGI Knock Outs for SCN7A:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SCN7A Gene

Localization for SCN7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN7A Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCN7A Gene COMPARTMENTS Subcellular localization image for SCN7A gene
Compartment Confidence
plasma membrane 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for SCN7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IEA --
GO:0005886 plasma membrane IEA,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0097386 glial cell projection IEA --
genes like me logo Genes that share ontologies with SCN7A: view

Pathways & Interactions for SCN7A Gene

genes like me logo Genes that share pathways with SCN7A: view

Pathways by source for SCN7A Gene

Interacting Proteins for SCN7A Gene

Gene Ontology (GO) - Biological Process for SCN7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport TAS 1317577
GO:0006936 muscle contraction IEA,TAS --
GO:0019228 neuronal action potential IBA --
genes like me logo Genes that share ontologies with SCN7A: view

No data available for SIGNOR curated interactions for SCN7A Gene

Drugs & Compounds for SCN7A Gene

(31) Drugs for SCN7A Gene - From: DrugBank, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 322
Benzocaine Approved Pharma 1892
Carbamazepine Approved, Investigational Pharma 131
Lamotrigine Approved, Investigational Pharma 5-HT inhibitor 183
Ouabain Approved Pharma 0

(2) Additional Compounds for SCN7A Gene - From: Novoseek and HMDB

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

(27) ApexBio Compounds for SCN7A 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
Flecainide acetate Antiarrhythmic drug 54143-56-5
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 SCN7A: view

Transcripts for SCN7A Gene

Unigene Clusters for SCN7A Gene

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

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCN7A Gene

No ASD Table

Relevant External Links for SCN7A Gene

GeneLoc Exon Structure for
SCN7A
ECgene alternative splicing isoforms for
SCN7A

Expression for SCN7A Gene

mRNA expression in normal human tissues for SCN7A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCN7A Gene

This gene is overexpressed in Nerve - Tibial (x8.5), Colon - Sigmoid (x5.3), Ovary (x4.8), and Lung (x4.4).

Protein differential expression in normal tissues from HIPED for SCN7A Gene

This gene is overexpressed in Heart (53.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCN7A Gene



Protein tissue co-expression partners for SCN7A Gene

NURSA nuclear receptor signaling pathways regulating expression of SCN7A Gene:

SCN7A

SOURCE GeneReport for Unigene cluster for SCN7A Gene:

Hs.596087

mRNA Expression by UniProt/SwissProt for SCN7A Gene:

Q01118-SCN7A_HUMAN
Tissue specificity: Heart and uterus.
genes like me logo Genes that share expression patterns with SCN7A: view

Primer Products

Orthologs for SCN7A Gene

This gene was present in the common ancestor of animals.

Orthologs for SCN7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN7A 34 35
  • 98.37 (n)
dog
(Canis familiaris)
Mammalia SCN7A 34 35
  • 87.08 (n)
cow
(Bos Taurus)
Mammalia SCN7A 34 35
  • 85.51 (n)
mouse
(Mus musculus)
Mammalia Scn7a 34 16 35
  • 80.17 (n)
rat
(Rattus norvegicus)
Mammalia Scn7a 34
  • 79.63 (n)
oppossum
(Monodelphis domestica)
Mammalia SCN7A 35
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta para 35
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-2 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToOne
Species where no ortholog for SCN7A 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SCN7A Gene

ENSEMBL:
Gene Tree for SCN7A (if available)
TreeFam:
Gene Tree for SCN7A (if available)

Paralogs for SCN7A Gene

(11) SIMAP similar genes for SCN7A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SCN7A: view

Variants for SCN7A Gene

Sequence variations from dbSNP and Humsavar for SCN7A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10178010 -- 166,436,810(+) ctgtg(C/T)tttag intron-variant
rs10180790 -- 166,437,343(+) aagaa(C/T)tgaga intron-variant
rs10204196 -- 166,437,190(+) tgtgc(A/C)gccta intron-variant
rs1046022 -- 166,403,888(-) TATGG(A/G)GACCA nc-transcript-variant, utr-variant-3-prime
rs10497286 -- 166,493,238(+) ATATC(C/T)AAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCN7A Gene

Variant ID Type Subtype PubMed ID
esv3593248 CNV gain 21293372
esv3893506 CNV loss 25118596
nsv470499 CNV loss 18288195
nsv583586 CNV loss 21841781
nsv583587 CNV loss 21841781
nsv834448 CNV loss 17160897

Variation tolerance for SCN7A Gene

Residual Variation Intolerance Score: 97.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.53; 72.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCN7A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN7A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN7A Gene

Disorders for SCN7A Gene

MalaCards: The human disease database

(5) MalaCards diseases for SCN7A Gene - From: GeneCards

Disorder Aliases PubMed IDs
normokalemic periodic paralysis
  • normokalemic pp
hypokalemic periodic paralysis, type 2
  • hypokalemic periodic paralysis type 2
paramyotonia congenita
  • paramyotonia congenita of von eulenburg
myotonia
generalized epilepsy with febrile seizures plus
  • gefs+
- elite association - COSMIC cancer census association via MalaCards
Search SCN7A in MalaCards View complete list of genes associated with diseases

Relevant External Links for SCN7A

Genetic Association Database (GAD)
SCN7A
Human Genome Epidemiology (HuGE) Navigator
SCN7A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCN7A
genes like me logo Genes that share disorders with SCN7A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SCN7A Gene

Publications for SCN7A Gene

  1. Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family. (PMID: 1317577) George A.L. Jr. … Tamkun M.M. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 22 64
  2. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PMID: 19451621) Landers J.E. … Brown R.H. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 46 64
  3. Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks. (PMID: 17339538) Meyers K.J. … Kardia S.L. (Hypertension 2007) 3 46 64
  4. [Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese]. (PMID: 14669210) Zhang K.X. … Huang W. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2003) 3 46 64
  5. Evolution and diversity of mammalian sodium channel genes. (PMID: 10198179) Plummer N.W. … Meisler M.H. (Genomics 1999) 2 3 64

Products for SCN7A Gene

Sources for SCN7A Gene

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