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Gene: SCNN1A (sodium channel epithelial 1 subunit alpha) Homo sapiens
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Symbol: SCNN1A
Name: sodium channel epithelial 1 subunit alpha
Description: Exhibits WW domain binding activity. Contributes to ligand-gated sodium channel activity. Involved in multicellular organismal water homeostasis; sodium ion homeostasis; and sodium ion transmembrane transport. Localizes to several cellular components, including ciliary membrane; extracellular exosome; and sodium channel complex. Implicated in Liddle syndrome; autosomal recessive pseudohypoaldosteronism type 1; bronchiectasis 2; and pseudohypoaldosteronism. Biomarker of neuroblastoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha ENaC-2; alpha-ENaC; alpha-NaCH; amiloride-sensitive epithelial sodium channel alpha subunit; amiloride-sensitive sodium channel subunit alpha; amiloride-sensitive sodium channel subunit alpha 2; BESC2; ENaCa; ENaCalpha; epithelial Na(+) channel subunit alpha; FLJ21883; LIDLS3; nasal epithelial sodium channel alpha subunit; nonvoltage-gated sodium channel 1 subunit alpha; SCNEA; SCNN1; sodium channel epithelial 1 alpha subunit; sodium channel, non voltage gated 1 alpha subunit; sodium channel, non-voltage-gated 1 alpha; sodium channel, non-voltage-gated 1 alpha subunit; sodium channel, nonvoltage-gated 1 alpha
Orthologs:
Mus musculus (house mouse) : Scnn1a (sodium channel, nonvoltage-gated 1 alpha)  MGI  Alliance
Rattus norvegicus (Norway rat) : Scnn1a (sodium channel epithelial 1 subunit alpha)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Scnn1a (sodium channel epithelial 1 alpha subunit)
Pan paniscus (bonobo/pygmy chimpanzee) : SCNN1A (sodium channel epithelial 1 alpha subunit)
Canis lupus familiaris (dog) : SCNN1A (sodium channel epithelial 1 subunit alpha)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Scnn1a (sodium channel epithelial 1 alpha subunit)
Sus scrofa (pig) : SCNN1A (sodium channel epithelial 1 subunit alpha)
Chlorocebus sabaeus (African green monkey) : SCNN1A (sodium channel epithelial 1 subunit alpha)
Heterocephalus glaber (naked mole-rat) : Scnn1a (sodium channel epithelial 1 subunit alpha)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl126,346,843 - 6,377,730 (-)EnsemblGRCh38hg38GRCh38
GRCh38126,346,843 - 6,377,357 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37126,456,009 - 6,486,896 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,326,274 - 6,354,976 (-)NCBINCBI36hg18NCBI36
Build 34126,326,275 - 6,354,976NCBI
Celera128,072,686 - 8,103,776 (-)NCBI
Cytogenetic Map12p13.31NCBI
HuRef126,309,328 - 6,340,388 (-)NCBIHuRef
CHM1_1126,455,271 - 6,485,705 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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RNA-SEQ Expression

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External Database Links
Nomenclature History
 
More on SCNN1A
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 736324
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-05-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.