Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SCN4A contributors: mct/npt - updated : 12-01-2016
HGNC name sodium channel, voltage-gated, type IV, alpha subunit
HGNC id 10591
DNA
TYPE functioning gene
STRUCTURE 34.36 kb     24 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - NGFR - GH1 ,SCN4A - TK1 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
24 - 7805 208 1836 - Bennani-Baiti (1995)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
Lymphoid/Immunelymph node   highly
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four transmembrane (4TM) domains of homology
  • each with six alpha helical membrane spanning segments
  • two cytoplasmic loops
    • secondary structure an alpha subunit and a smaller beta subunit
    HOMOLOGY
    interspecies homolog to murine Scn4a
    Homologene
    FAMILY
  • sodium channel family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating the voltage-dependent sodium ion permeability of excitable membranes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of membrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HYKPP , HOKPP2 , PMC , CMS16
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS