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FLASH GENE
Symbol SCNN1G contributors: mct - updated : 19-04-2017
HGNC name sodium channel, nonvoltage-gated 1, gamma
HGNC id 10602
Corresponding disease
PHA1A1 pseudohypoaldosteronism, type 1
PSALD pseudoaldosteronism, Liddle syndrome
Location 16p12.2      Physical location : 23.194.039 - 23.228.200
Synonym name
  • ENaC gamma subunit
  • amiloride-sensitive epithelial sodium channel gamma subunit
  • epithelial Na(+) channel subunit gamma
    • Synonym symbol(s) ENaCg, ENaCgamma, PHA1, SCNEG, BESC3
    DNA
    TYPE functioning gene
    STRUCTURE 34.16 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3516 74.14 649 - Waldmann (1995)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
    Reproductivefemale systemuterus   
     female systembreastmammary gland  
    Urinarykidneytubulecollecting duct highly
    urinarykidneynephrondistal convoluted tubule  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     epithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • (at least) two membrane spanning segments
  • several glycosylation and a nucleotide binding sites
  • a N terminal cluster of negatively charged AA
  • a C terminal cluster of positively charged AA, forming a cytosolic domain reactive at the plasma membrane
  • a conserved proline-rich aminoacid sequence (PY motif, inhibiting Na+ absorption by interacting with NEDD4
    • mono polymer heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • degenerin/ENaC superfamily
  • amiloride-sensitive cation channels
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text gated in the luminal membrane of the collecting tubule of kidney, apical membrane
    basic FUNCTION
  • epithelial amiloride-sensitive sodium channel,non-voltage
  • mediating renal reabsorption of sodium in the distal tubule
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism
    signaling
    a component
  • component of a heterotetramer including two SCNN1A, and one SCNN1B and one SCNN1G
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NEDD4 binding
  • PCSK9 inhibits ENaC (SCNN1A, SCNN1B, SCNN1G) current by reducing the number of channels at the cell surface
    • cell & other
    REGULATION
    Other regulated by aldosterone
    ASSOCIATED DISORDERS
    corresponding disease(s) PHA1A1 , PSALD
    Susceptibility
    Variant & Polymorphism
    Candidate gene could be a modifier gene in cystic fibrosis
    Marker
    Therapy target
    ANIMAL & CELL MODELS