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Scnn1b Gene Detail
Summary
  • Symbol
    Scnn1b
  • Name
    sodium channel, nonvoltage-gated 1 beta
  • Synonyms
    ENaC beta
  • Feature Type
    protein coding gene
  • IDs
    MGI:104696
    NCBI Gene: 20277
  • Gene Overview
    MyGene.info: SCNN1B
Location & Maps
more
  • Sequence Map
    Chr7:121865038-121918514 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      53477 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SCNN1B, sodium channel epithelial 1 beta subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SCNN1B, sodium channel epithelial 1 beta subunit
    Orthology source: HomoloGene
  • Synonyms
    BESC1, ENaCb, ENaCbeta, SCNEB
  • Links
    NCBI Gene ID: 6338
    neXtProt AC: NX_P51168

  • Chr Location
    16p12.2-p12.1; chr16:23302270-23381299 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Scnn1b mouse models; 3 with human SCNN1B associations

Human Disease Mouse Models
       Liddle Syndrome; LIDLS   OMIM: 177200 View 1 model
Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA1B   OMIM: 264350 View 1 model
       Cystic Fibrosis; CF   OMIM: 219700 View 1 model
Pulmonary Disease, Chronic Obstructive; COPD   OMIM: 606963 View 1 model
       Bronchiectasis with or without Elevated Sweat Chloride 1; BESC1   OMIM: 211400
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 7 alleles in 9 genetic backgrounds
    4 phenotypes from multigenic genotypes
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in death shortly after birth, decreased serum sodium levels but higher urine sodium levels and increased serum potassium and chloride levels but lower potassium urine levels. Another homozygous mutation exhibits no abnormal phenotype.
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 OTTMUSG00000058100 VEGA Gene Model | MGI Sequence Detail 53477 C57BL/6J ±  kb
transcript OTTMUST00000142659 VEGA | MGI Sequence Detail 2478 Not Applicable  
polypeptide OTTMUSP00000074407 VEGA | MGI Sequence Detail 638 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    278 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000014528 amiloride-sensitive sodium channel subunit beta
  • 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 25
    cDNA 23
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-27059
References
more
  • Summaries
    All 81
    Developmental Gene Expression 12
    Diseases 6
    Gene Ontology 8
    Phenotypes 34
  • Earliest
    J:45861 Shimkets RA, et al., Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell. 1994 Nov 4;79(3):407-14
  • Latest
    J:218688 Saini Y, et al., Gene expression in whole lung and pulmonary macrophages reflects the dynamic pathology associated with airway surface dehydration. BMC Genomics. 2014;15:726

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory