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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
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:121464261-121517737 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 65.07 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1330 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104696
 protein coding gene Chr7:121464261-121517951 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032945
 protein coding gene Chr7:125913370-125970789 (+)
A/J MGP_AJ_G0032928
 protein coding gene Chr7:122652565-122709314 (+)
AKR/J MGP_AKRJ_G0032860
 protein coding gene Chr7:125777873-125831075 (+)
BALB/cJ MGP_BALBcJ_G0032933
 protein coding gene Chr7:122350029-122404454 (+)
C3H/HeJ MGP_C3HHeJ_G0032643
 protein coding gene Chr7:125698364-125758863 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033439
 protein coding gene Chr7:130886667-130954989 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030411
 protein coding gene Chr7:123981287-124036393 (+)
CAST/EiJ MGP_CASTEiJ_G0031971
 protein coding gene Chr7:117469622-117528787 (+)
CBA/J MGP_CBAJ_G0032616
 protein coding gene Chr7:135253253-135324491 (+)
DBA/2J MGP_DBA2J_G0032768
 protein coding gene Chr7:120662045-120719751 (+)
FVB/NJ MGP_FVBNJ_G0032721
 protein coding gene Chr7:120515403-120570555 (+)
LP/J MGP_LPJ_G0032862
 protein coding gene Chr7:127361959-127422917 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032753
 protein coding gene Chr7:136674292-136733016 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033459
 protein coding gene Chr7:124777978-124839957 (+)
PWK/PhJ MGP_PWKPhJ_G0031679
 protein coding gene Chr7:113590383-113646152 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031525
 protein coding gene Chr7:111546517-111606171 (+)
WSB/EiJ MGP_WSBEiJ_G0032084
 protein coding gene Chr7:125689703-125746676 (+)



Homology
more
  • Human Ortholog
    SCNN1B, sodium channel epithelial 1 subunit beta
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SCNN1B, sodium channel epithelial 1 subunit beta
  • Synonyms
    BESC1, beta-ENaC, beta-NaCH, ENaCb, ENaCbeta, LIDLS1, PHA1B2, SCNEB
  • Links
    NCBI Gene ID: 6338
    neXtProt AC: NX_P51168
    UniProt: P51168

  • Chr Location
    16p12.2; chr16:23278231-23381294 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Scnn1b mouse models; 3 with human SCNN1B associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    32 phenotypes from 7 alleles in 9 genetic backgrounds
    4 phenotypes from multigenic genotypes
    79 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 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
less
  • All GO Annotations
    77
  • GO References
    23
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    863
  • Tissues
    125
  • cDNA Data
    23
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030873 Ensembl Gene Model | MGI Sequence Detail 53477 C57BL/6J ±  kb
    transcript ENSMUST00000033161 Ensembl | MGI Sequence Detail 2478 Not Applicable  
    polypeptide ENSMUSP00000033161 Ensembl | MGI Sequence Detail 638 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 24
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-27059
    References
    more
    • Summaries
      All 157
      Developmental Gene Expression 17
      Diseases 3
      Gene Ontology 23
      Phenotypes 79
    • Earliest
      J:101823 Hackett BP, et al., Cell-specific expression of a Clara cell secretory protein-human growth hormone gene in the bronchiolar epithelium of transgenic mice. Proc Natl Acad Sci U S A. 1992 Oct 1;89(19):9079-83
    • Latest
      J:353823 Hamby M, et al., Mice lacking ASIC2 and betaENaC are protected from high-fat-diet-induced metabolic syndrome. Front Endocrinol (Lausanne). 2024;15:1449344
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory