Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 6334, updated on 17-Feb-2018
    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; Vega:OTTHUMG00000169490
    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
    Location:
    12q13.13
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (51589959..51812865)
    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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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. ...
    Products Interactant Other Gene Complex Source Pubs Description

    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 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
     
    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
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 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
     
    voltage-gated sodium channel complex IC
    Inferred by Curator
    more info
    PubMed 
    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

    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, OTTHUMP00000241297, ENST00000354534.10, OTTHUMT00000404372
      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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      51589959..51812865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719556.3XP_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_017019794.1XP_016875283.1  sodium channel protein type 8 subunit alpha isoform X2

      UniProtKB/Swiss-Prot
      Q9UQD0
      Related
      ENSP00000476447.3, OTTHUMP00000278453, ENST00000599343.5, OTTHUMT00000481599
      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_011538651.2XP_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, OTTHUMP00000278454, ENST00000627620.2, OTTHUMT00000481600
      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_011538650.2XP_011536952.1  sodium channel protein type 8 subunit alpha isoform X1

      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
    5. XM_017019795.1XP_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
    6. XM_017019796.1XP_016875285.1  sodium channel protein type 8 subunit alpha isoform X4

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      51951468..52173106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.
    Support Center