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FLASH GENE
Symbol SCN4A contributors: mct/npt - updated : 12-01-2016
HGNC name sodium channel, voltage-gated, type IV, alpha subunit
HGNC id 10591
Corresponding disease
CMS16 congenital myasthenic syndrome, 16
HOKPP2 hypokalemic periodic paralysis
HYKPP hyperkalemic periodic paralysis
PMC paramyotonia congenita of von Eulenburg
Location 17q23.3      Physical location : 62.015.913 - 62.050.278
Synonym name
  • sodium channel protein, skeletal muscle alpha-subunit
  • voltage-gated sodium channel subunit alpha Nav1.4
  • skeletal muscle voltage-dependent sodium channel type IV alpha subunit
  • Synonym symbol(s) SCNMA, HYPP, NAC1A, SKM1, Nav1.4
    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
    Physical map
    LOC342541 17q24.1 similar to peptidyl-Pro cis trans isomerase ACE 17q23 angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 KCNH6 17q24.2 potassium voltage-gated channel, subfamily H (eag-related), member 6 HAN11 17q24.2 WD-repeat protein LOC51204 17q24.2 clone HQ0477 PRO0477p LOC390806 17 similar to Hypothetical protein FLJ14668 MAP3K3 17q24.2 mitogen-activated protein kinase kinase kinase 3 MGC10986 17q24.2 hypothetical protein MGC10986 LYK5 17q24.2 protein kinase LYK5 GK001 17q24.2 GK001 protein DDX42 17q24.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 FTSJ3 17q23 FtsJ homolog 3 (E. coli) PSMC5 17q24-q25 proteasome (prosome, macropain) 26S subunit, ATPase, 5 SMARCD2 17q23-q24 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 LOC388410 17 LOC388410 CSH2 17q23.3-q24.2 chorionic somatomammotropin hormone 2 GH2 17q23 growth hormone 2 CSH1 17q23.3-q24.2 chorionic somatomammotropin hormone 1 (placental lactogen) CSHL1 17q23.3-q24.2 chorionic somatomammotropin hormone-like 1 GH1 17q24 growth hormone 1 CD79B 17q23 CD79B antigen (immunoglobulin-associated beta) SCN4A 17q23 sodium channel, voltage-gated, type IV, alpha ICAM2 17q23-q25 intercellular adhesion molecule 2 ERN1 16p12 ER to nucleus signalling 1 FLJ30999 17q24.2 hypothetical protein FLJ30999 HT008 17q24.2 uncharacterized hypothalamus protein HT008
    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