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SCNN1G information


SCNN1G
Identifiers
AliasesSCNN1G, BESC3, ENaCg, ENaCgamma, PHA1, SCNEG, sodium channel epithelial 1 gamma subunit, LDLS2, sodium channel epithelial 1 subunit gamma
External IDsOMIM: 600761; MGI: 104695; HomoloGene: 20280; GeneCards: SCNN1G; OMA:SCNN1G - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001039

NM_011326

RefSeq (protein)

NP_001030

NP_035456

Location (UCSC)Chr 16: 23.18 – 23.22 MbChr 7: 121.33 – 121.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The SCNN1G gene encodes for the γ subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1D.[5]

ENaC is expressed in epithelial cells and is different from the voltage-gated sodium channel that is involved in the generation of action potentials in neurons. The abbreviation for the genes encoding for voltage-gated sodium channel starts with three letters: SCN. In contrast to these sodium channels, ENaC is constitutively active and is not voltage-dependent. The second N in the abbreviation (SCNN1) represents that these are NON-voltage-gated channels.

In most vertebrates, sodium ions are the major determinant of the osmolarity of the extracellular fluid.[6] ENaC allows transfer of sodium ions across the epithelial cell membrane in so-called "tight-epithelia" that have low permeability. The flow of sodium ions across epithelia affects osmolarity of the extracellular fluid. Thus, ENaC plays a central role in the regulation of body fluid and electrolyte homeostasis and consequently affects blood pressure.[7]

As ENaC is strongly inhibited by amiloride, it is also referred to as an "amiloride-sensitive sodium channel".

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166828 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000216 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hanukoglu I, Hanukoglu A (Jan 2016). "Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases". Gene. 579 (2): 95–132. doi:10.1016/j.gene.2015.12.061. PMC 4756657. PMID 26772908.
  6. ^ Bourque CW (Jul 2008). "Central mechanisms of osmosensation and systemic osmoregulation". Nature Reviews. Neuroscience. 9 (7): 519–31. doi:10.1038/nrn2400. PMID 18509340. S2CID 205504313.
  7. ^ Rossier BC, Baker ME, Studer RA (Jan 2015). "Epithelial sodium transport and its control by aldosterone: the story of our internal environment revisited". Physiological Reviews. 95 (1): 297–340. doi:10.1152/physrev.00011.2014. PMID 25540145.

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SCNN1G

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The SCNN1G gene encodes for the γ subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous...

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Epithelial sodium channel

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δ, β, and γ, These subunits are encoded by four genes: SCNN1A, SCNN1B, SCNN1G, and SCNN1D. The ENaC is involved primarily in the reabsorption of sodium...

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Pseudohypoaldosteronism

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was discovered to be due to mutations in the genes SCNN1A, SCNN1B, and SCNN1G that code for the epithelial sodium channel subunits, α, β, and γ, respectively...

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Isolated hyperchlorhidrosis

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of her CFTR (gene associated with cystic fibrosis), SCNN1A, SCNN1B, and SCNN1G genes came back normal. Sequencing of her CA12 gene found two pathogenic...

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SCNN1A

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β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1B, SCNN1G, and SCNN1D. ENaC is expressed in epithelial cells and is different from...

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Index of biophysics articles

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S-layer SCN10A SCN1B SCN2B SCN3A SCN3B SCN4B SCN7A SCN8A SCNN1A SCNN1B SCNN1D SCNN1G SIGLEC SK3 SK channel Saffman–Delbrück model Sammy Lee (scientist) Sarcolemma...

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SCNN1B

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β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1G, and SCNN1D. ENaC is expressed in epithelial cells and is different from...

Word Count : 3035

SCNN1D

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δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1G. ENaC is expressed in epithelial cells and is different from the voltage-gated...

Word Count : 1553

List of OMIM disorder codes

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SCNN1A Bronchiectasis with or without elevated sweat chloride 3; 613071; SCNN1G Brooke–Spiegler syndrome; 605041; CYLD1 Brown–Vialetto–Van Laere syndrome;...

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Ubiquitin C

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NOTCH1, NUAK1, OPRK1, P53, PCNA PARK2, RIPK1, RPS6KB1, S100A10, SCNN1A, SCNN1G, SFPQ, SMAD3, SMURF2, SP1, TRAF6, and THRA. GRCh38: Ensembl release 89:...

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STX1A

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STX1A has been shown to interact with: CPLX1, CFTR, NAPA, RNF40, SCNN1G, SLC6A1, SNAP-25, SNAP23, STXBP1, STXBP5, SYT1 UNC13B, VAMP2, and VAMP8...

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