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Scnn1g Gene Detail
Summary
  • Symbol
    Scnn1g
  • Name
    sodium channel, nonvoltage-gated 1 gamma
  • Synonyms
    ENaC gamma
  • Feature Type
    protein coding gene
  • IDs
    MGI:104695
    NCBI Gene: 20278
  • Gene Overview
    MyGene.info: SCNN1G
Location & Maps
more
  • Sequence Map
    Chr7:121734479-121768475 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      33997 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 65.07 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    SCNN1G, sodium channel epithelial 1 gamma subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SCNN1G, sodium channel epithelial 1 gamma subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BESC3, ENaCg, ENaCgamma, PHA1, SCNEG
  • Links
    NCBI Gene ID: 6340
    neXtProt AC: NX_P51170

  • Chr Location
    16p12; chr16:23182719-23216879 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Scnn1g mouse models; 3 with human SCNN1G associations

Human Disease Mouse Models
       Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA1B   OMIM: 264350 View 1 model
       Bronchiectasis with or without Elevated Sweat Chloride 3; BESC3   OMIM: 613071
Liddle Syndrome; LIDLS   OMIM: 177200
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in partial lethality between 24-36 hours after birth. Newborns exhibit hyperkalemia, clear lung liquid more slowly, and show low urinary potassium and high urinary sodium concentrations.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024632 VEGA Gene Model | MGI Sequence Detail 33997 C57BL/6J ±  kb
transcript OTTMUST00000060557 VEGA | MGI Sequence Detail 2991 Not Applicable  
polypeptide OTTMUSP00000029537 VEGA | MGI Sequence Detail 655 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    179 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000014530 amiloride-sensitive sodium channel subunit gamma
  • InterPro Domains
    IPR004724 Epithelial sodium channel
    IPR001873 Na+ channel, amiloride-sensitive
    IPR020903 Na+ channel, amiloride-sensitive, conserved site
Molecular
Reagents
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  • All nucleic 19
    cDNA 16
    Primer pair 2
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-27058
References
more
  • Summaries
    All 66
    Developmental Gene Expression 12
    Diseases 2
    Gene Ontology 8
    Phenotypes 8
  • Earliest
    J:29372 Brooker DR, et al., Epithelial sodium channel genes Scnn1b and Scnn1g are closely linked on distal mouse chromosome 7. Genomics. 1995 Oct 10;29(3):784-6
  • Latest
    J:218810 Pavlov TS, et al., Role of Rho GDP dissociation inhibitor alpha in control of epithelial sodium channel (ENaC)-mediated sodium reabsorption. J Biol Chem. 2014 Oct 10;289(41):28651-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory