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SCN8A sodium voltage-gated channel alpha subunit 8 [ Homo sapiens (human) ]

Gene ID: 6334, updated on 8-Dec-2018

Summary

Official Symbol
SCN8Aprovided by HGNC
Official Full Name
sodium voltage-gated channel alpha subunit 8provided by HGNC
Primary source
HGNC:HGNC:10596
See related
Ensembl:ENSG00000196876 MIM:600702
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
MED; PN4; CIAT; BFIS5; NaCh6; CERIII; EIEE13; Nav1.6
Summary
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Expression
Biased expression in brain (RPKM 8.0), testis (RPKM 1.0) and 2 other tissues See more
Orthologs

Genomic context

See SCN8A in Genome Data Viewer
Location:
12q13.13
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (51589958..51812864)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51984050..52206648)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984508 Neighboring gene solute carrier family 4 member 8 Neighboring gene uncharacterized LOC105369768 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 10 Neighboring gene uncharacterized LOC105369971 Neighboring gene fidgetin like 2 Neighboring gene ankyrin repeat domain 33

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
    Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
  • L1CAM interactions, organism-specific biosystem (from REACTOME)
    L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
    Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33996

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
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 
voltage-gated sodium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated sodium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
voltage-gated sodium channel activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
membrane depolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myelination ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
neuronal action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peripheral nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon initial segment ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
node of Ranvier ISS
Inferred from Sequence or Structural Similarity
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 
voltage-gated sodium channel complex IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
sodium channel protein type 8 subunit alpha
Names
hNa6/Scn8a voltage-gated sodium channel
sodium channel, voltage gated, type VIII, alpha subunit
voltage-gated sodium channel subunit alpha Nav1.6
voltage-gated sodium channel type VIII alpha protein

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_021180.2 RefSeqGene

    Range
    5001..226629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001177984.2NP_001171455.1  sodium channel protein type 8 subunit alpha isoform 2

    See identical proteins and their annotated locations for NP_001171455.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB027567, AC013421, AC025097, AC068987, BX112779
    Consensus CDS
    CCDS53794.1
    UniProtKB/Swiss-Prot
    Q9UQD0
    Related
    ENSP00000440360.1, ENST00000545061.5
    Conserved Domains (6) summary
    smart00015
    Location:18531874
    IQ; Calmodulin-binding motif
    cd13433
    Location:14241476
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:14811735
    Ion_trans; Ion transport protein
    pfam06512
    Location:9911192
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:502688
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17391802
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. NM_001330260.1NP_001317189.1  sodium channel protein type 8 subunit alpha isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (3) is the same length, but has a different internal segment compared to isoform 1.
    Source sequence(s)
    AB027567, AC013421, AC025097, AC068987, AY682081, BX112779
    Consensus CDS
    CCDS81692.1
    UniProtKB/Swiss-Prot
    Q9UQD0
    UniProtKB/TrEMBL
    Q6B4S4
    Conserved Domains (6) summary
    smart00015
    Location:18941915
    IQ; Calmodulin-binding motif
    cd13433
    Location:14651517
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:11971473
    Ion_trans; Ion transport protein
    pfam06512
    Location:9911192
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:502688
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17801843
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  3. NM_014191.3NP_055006.1  sodium channel protein type 8 subunit alpha isoform 1

    See identical proteins and their annotated locations for NP_055006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB027567, AC013421, AC025097, AC068987, BX112779
    Consensus CDS
    CCDS44891.1
    UniProtKB/Swiss-Prot
    Q9UQD0
    Related
    ENSP00000346534.4, ENST00000354534.10
    Conserved Domains (6) summary
    smart00015
    Location:18941915
    IQ; Calmodulin-binding motif
    cd13433
    Location:14651517
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:11971473
    Ion_trans; Ion transport protein
    pfam06512
    Location:9911192
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:502688
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17801843
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    51589958..51812864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719556.4XP_006719619.1  sodium channel protein type 8 subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_006719619.1

    UniProtKB/Swiss-Prot
    Q9UQD0
    Conserved Domains (6) summary
    smart00015
    Location:18941915
    IQ; Calmodulin-binding motif
    cd13433
    Location:14651517
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:11971473
    Ion_trans; Ion transport protein
    pfam06512
    Location:9911192
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:502688
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17801843
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. XM_017019794.2XP_016875283.1  sodium channel protein type 8 subunit alpha isoform X2

    UniProtKB/Swiss-Prot
    Q9UQD0
    Related
    ENSP00000476447.3, ENST00000599343.5
    Conserved Domains (6) summary
    smart00015
    Location:18941915
    IQ; Calmodulin-binding motif
    cd13433
    Location:14651517
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:11971473
    Ion_trans; Ion transport protein
    pfam06512
    Location:9911192
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:502688
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17801843
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  3. XM_011538651.3XP_011536953.1  sodium channel protein type 8 subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_011536953.1

    UniProtKB/Swiss-Prot
    Q9UQD0
    Related
    ENSP00000487583.1, ENST00000627620.2
    Conserved Domains (6) summary
    smart00015
    Location:18941915
    IQ; Calmodulin-binding motif
    cd13433
    Location:14651517
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:11971473
    Ion_trans; Ion transport protein
    pfam06512
    Location:9911192
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:502688
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17801843
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  4. XM_017019795.2XP_016875284.1  sodium channel protein type 8 subunit alpha isoform X3

    Conserved Domains (5) summary
    smart00015
    Location:18531874
    IQ; Calmodulin-binding motif
    cd13433
    Location:14241476
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:14981735
    Ion_trans; Ion transport protein
    pfam06512
    Location:9911192
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:502611
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
  5. XM_017019796.1XP_016875285.1  sodium channel protein type 8 subunit alpha isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175894.2: Suppressed sequence

    Description
    NM_175894.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
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