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

Gene ID: 6332, updated on 1-Jun-2020

Summary

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
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

Genomic context

See SCN7A in Genome Data Viewer
Location:
2q24.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (166403573..166494264, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (167260083..167343481, 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 uncharacterized LOC107985958 Neighboring gene xin actin binding repeat containing 2 Neighboring gene XIRP2 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
voltage-gated sodium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
membrane depolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle contraction IEA
Inferred from Electronic Annotation
more info
 
neuronal action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
sodium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glial cell projection IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
sodium channel protein type 7 subunit alpha
Names
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)

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_031928.1 RefSeqGene

    Range
    5001..88399
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002976.4NP_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:11941246
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:9511198
    Ion_trans; Ion transport protein
    pfam06512
    Location:743927
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    166403573..166494264 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511615.2XP_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:11941246
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:9511198
    Ion_trans; Ion transport protein
    pfam06512
    Location:743927
    Na_trans_assoc; Sodium ion transport-associated
  2. XM_017004667.1XP_016860156.1  sodium channel protein type 7 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q01118
    Conserved Domains (3) summary
    cd13433
    Location:11941246
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:9511198
    Ion_trans; Ion transport protein
    pfam06512
    Location:743927
    Na_trans_assoc; Sodium ion transport-associated
  3. XM_006712682.3XP_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:11941246
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:9511198
    Ion_trans; Ion transport protein
    pfam06512
    Location:743927
    Na_trans_assoc; Sodium ion transport-associated
  4. XM_006712680.2XP_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:11941246
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:9511198
    Ion_trans; Ion transport protein
    pfam06512
    Location:743927
    Na_trans_assoc; Sodium ion transport-associated
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