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FLASH GENE
Symbol SCNN1G contributors: mct - updated : 24-08-2010
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
    Physical map
    IGSF6 16p13-p12 immunoglobulin superfamily, member 6 OTOA 16p12.12 otoancorin LOC94431 16p12.3 similar to RNA polymerase I transcription factor RRN3 LOC390681 16 similar to RNA polymerase I transcription factor RRN3 MGC9515 16p12.3 hypothetical protein MGC9515 LOC390682 16 similar to PI-3-kinase-related kinase SMG-1 isoform 1; lambda/iota protein kinase C-interacting protein; phosphatidylinositol 3-kinase-related protein kinase LOC342293 16p12.3 similar to hypothetical protein UQCRC2 16p12.2 ubiquinol-cytochrome c reductase core protein II MGC50721 16p12.3 hypothetical protein MGC50721 LOC146174 16p12.3 hypothetical protein LOC146174 LOC146177 16p12.3 hypothetical protein LOC146177 LOC390683 16 similar to NAD(P) dependent steroid dehydrogenase-like EEF2K 16p12.1-q12.2 similar to NAD(P) dependent steroid dehydrogenase-like RPC5 16p12.3 RNA polymerase III 80 kDa subunit RPC5 CDR2 16p12.2 cerebellar degeneration-related protein 2, 62kDa LOC390684 16 similar to RRN3 LOC283846 16p12.3 PI-3-kinase-related kinase SMG-1-like LOC388225 16 similar to MGC9515 protein HS3ST2 16p12 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 KIAA1203 16p12.3 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 SCNN1G 16p12.2-p12.1 sodium channel, nonvoltage-gated 1, gamma SCNN1B 16p12.2-p12.1 sodium channel, nonvoltage-gated 1, beta (Liddle syndrome) COG7 16p11.2 component of oligomeric golgi complex 7 GGA2 16p12 golgi associated, gamma adaptin ear containing, ARF binding protein 2 UBPH 16p12 similar to ubiquitin binding protein NDUFAB1 16p12.3-p12.1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa FLJ21816 16p12.3 hypothetical protein FLJ21816 MGC3248 16p12.3 dynactin 4 PLK LOC388226 16 similar to protein kinase/ribonuclease IRE1 beta ERN2 16p12.2 ER to nucleus signalling 2 LOC63928 16p12.3 hepatocellular carcinoma antigen gene 520 PRKCB1 16p12.1 protein kinase C, beta 1 CACNG3 16p13-p12.1 calcium channel, voltage-dependent, gamma subunit 3 RNU7P3 16p12.3 RNA, U7 small nuclear pseudogene 3 RBBP6 16p12-p11.2 retinoblastoma binding protein 6
    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
  • 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