U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SCN7A sodium voltage-gated channel alpha subunit 7 [ Homo sapiens (human) ]

Gene ID: 6332, updated on 14-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
SCN7Aprovided by HGNC
Official Full Name
sodium voltage-gated channel alpha subunit 7provided by HGNC
Primary source
HGNC:HGNC:10594
See related
Ensembl:ENSG00000136546 MIM:182392; AllianceGenome:HGNC:10594
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NaG; SCN6A; Nav2.1; Nav2.2
Summary
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]
Expression
Broad expression in ovary (RPKM 21.8), lung (RPKM 14.7) and 15 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See SCN7A in Genome Data Viewer
Location:
2q24.3
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (166403573..166494249, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (166861052..166951694, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (167260083..167350759, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene SCN1A and SCN9A antisense RNA 1 Neighboring gene RN7SK pseudogene 152 Neighboring gene sodium voltage-gated channel alpha subunit 9 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124906087 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:167367421-167367674 Neighboring gene uncharacterized LOC107985958 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:167465572-167466152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:167467227-167467749

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Identification of SCN7A as the key gene associated with tumor mutation burden in gastric cancer. Li W, et al. BMC Gastroenterol, 2022 Feb 5. PMID 35123417, Free PMC Article
  2. Genomic analyses reveal SCN7A is associated with the prognosis of esophageal squamous cell carcinoma. Yuan P, et al. Esophagus, 2022 Apr. PMID 34993672
  3. Sodium channel Nax is a regulator in epithelial sodium homeostasis. Xu W, et al. Sci Transl Med, 2015 Nov 4. PMID 26537257
  4. The association between the polymorphisms in a sodium channel gene SCN7A and essential hypertension: a case-control study in the Northern Han Chinese. Zhang B, et al. Ann Hum Genet, 2015 Jan. PMID 25393565
  5. [Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese]. Zhang KX, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2003 Dec. PMID 14669210

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genomic analyses reveal SCN7A is associated with the prognosis of esophageal squamous cell carcinoma.
    Title: Genomic analyses reveal SCN7A is associated with the prognosis of esophageal squamous cell carcinoma.
  2. Identification of SCN7A as the key gene associated with tumor mutation burden in gastric cancer.
    Title: Identification of SCN7A as the key gene associated with tumor mutation burden in gastric cancer.
  3. The authors demonstrated that the sodium channel Nax functions as a sodium sensor. With increased extracellular sodium, Nax up-regulates prostasin, which results in activation of the sodium channel ENaC.
    Title: Sodium channel Nax is a regulator in epithelial sodium homeostasis.
  4. SNP rs7565062 of SCN7A was significantly associated with essential hypertension in a Northern Han Chinese population
    Title: The association between the polymorphisms in a sodium channel gene SCN7A and essential hypertension: a case-control study in the Northern Han Chinese.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables osmolarity-sensing monoatomic cation channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables sodium channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables transmembrane transporter binding IEA
Inferred from Electronic Annotation
more info
  
enables voltage-gated sodium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cardiac muscle cell action potential involved in contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in osmosensory signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in glial cell projection IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of voltage-gated sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
sodium channel protein type 7 subunit alpha
Names
atypical sodium channel Nav2.1
nax channel
putative voltage-gated sodium channel subunit alpha Nax
sodium channel protein cardiac and skeletal muscle subunit alpha
sodium channel protein type VII subunit alpha
sodium channel, voltage-gated, type VI, alpha polypeptide
sodium channel, voltage-gated, type VII, alpha subunit
voltage-dependent sodium channel alpha subunit

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031928.2 RefSeqGene

    Range
    5000..95676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002976.4 → NP_002967.2  sodium channel protein type 7 subunit alpha

    See identical proteins and their annotated locations for NP_002967.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the protein-coding transcript.
    Source sequence(s)
    AC074101, AC092583
    Consensus CDS
    CCDS46442.1
    UniProtKB/Swiss-Prot
    Q01118
    Related
    ENSP00000496114.1, ENST00000643258.1
    Conserved Domains (3) summary
    cd13433
    Location:1194 → 1246
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:951 → 1198
    Ion_trans; Ion transport protein
    pfam06512
    Location:743 → 927
    Na_trans_assoc; Sodium ion transport-associated

RNA

  1. NR_045628.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon and is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC074101, AC092583, BC062699, BC141864, CK903677

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    166403573..166494249 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712680.3 → XP_006712743.1  sodium channel protein type 7 subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_006712743.1

    UniProtKB/Swiss-Prot
    Q01118
    Related
    ENSP00000403846.2, ENST00000441411.2
    Conserved Domains (3) summary
    cd13433
    Location:1194 → 1246
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:951 → 1198
    Ion_trans; Ion transport protein
    pfam06512
    Location:743 → 927
    Na_trans_assoc; Sodium ion transport-associated

  2. XM_011511615.3 → XP_011509917.1  sodium channel protein type 7 subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_011509917.1

    UniProtKB/Swiss-Prot
    Q01118
    Conserved Domains (3) summary
    cd13433
    Location:1194 → 1246
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:951 → 1198
    Ion_trans; Ion transport protein
    pfam06512
    Location:743 → 927
    Na_trans_assoc; Sodium ion transport-associated

  3. XM_017004667.2 → XP_016860156.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118
    Conserved Domains (3) summary
    cd13433
    Location:1194 → 1246
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:951 → 1198
    Ion_trans; Ion transport protein
    pfam06512
    Location:743 → 927
    Na_trans_assoc; Sodium ion transport-associated

  4. XM_006712682.4 → XP_006712745.1  sodium channel protein type 7 subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_006712745.1

    UniProtKB/Swiss-Prot
    Q01118
    Conserved Domains (3) summary
    cd13433
    Location:1194 → 1246
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:951 → 1198
    Ion_trans; Ion transport protein
    pfam06512
    Location:743 → 927
    Na_trans_assoc; Sodium ion transport-associated

  5. XM_047445398.1 → XP_047301354.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118

  6. XM_047445397.1 → XP_047301353.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118

  7. XM_047445396.1 → XP_047301352.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    166861052..166951694 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343313.1 → XP_054199288.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118

  2. XM_054343319.1 → XP_054199294.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118

  3. XM_054343316.1 → XP_054199291.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118

  4. XM_054343314.1 → XP_054199289.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118

  5. XM_054343318.1 → XP_054199293.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118

  6. XM_054343317.1 → XP_054199292.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118

  7. XM_054343315.1 → XP_054199290.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q01118.2 GenPept UniProtKB/Swiss-Prot:Q01118

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous