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

    Gene ID: 6332, updated on 3-Nov-2024

    Summary

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    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
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    Genomic context

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    See SCN7A in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (166403573..166494249, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (166861052..166951694, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    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. Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family. George AL Jr, et al. Proc Natl Acad Sci U S A, 1992 Jun 1. PMID 1317577, Free PMC Article
    3. Voltage-dependent Na+ channel mRNA expression in pregnant myometrium. Boyle MB, et al. Recept Channels, 1994. PMID 7874451
    4. Assignment of a human voltage-dependent sodium channel alpha-subunit gene (SCN6A) to 2q21-q23. George AL Jr, et al. Genomics, 1994 Jan 15. PMID 8188276
    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 (19) 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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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    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_2024_08

    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

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