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Scnn1b
Gene Detail
 Symbol
Name
ID
Scnn1b
sodium channel, nonvoltage-gated 1 beta
MGI:104696
Synonyms ENaC beta
Feature Type protein coding gene
Genetic Map
Chromosome 7
65.07 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr7:121865111-121918515 bp, + strand
From Ensembl annotation of GRCm38

  53405 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:133555  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Gene Tree: Scnn1b

Human
homologs
Human Homolog SCNN1B, sodium channel, non-voltage-gated 1, beta subunit
NCBI Gene ID 6338
neXtProt AC  NX_P51168
Human Synonyms  BESC1, ENaCb, ENaCbeta, SCNEB
Human Chr (Location)  16p12.2-p12.1; chr16:23302270-23381299 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human SCNN1B
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Scnn1b (2)    Alleles Annotated to Human Diseases(2)   
Interactions
Scnn1b interacts with 60 markers (Mir19a, Mir30c-1, Mir30c-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (34 annotations)
Process ion transport, multicellular organismal water homeostasis, ...
Component apical plasma membrane, cell surface, ...
Function ligand-gated sodium channel activity, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (142)    Tissues (115)    Images (9)
Theiler Stages: 17, 21, 23, 24, 25, 26, 27, 28
Assay TypeResults
RNA in situ 109
RT-PCR 3
RNase protection 30
cDNA source data(22)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(25) cDNA(23) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000030873 (Evidence)
Entrez Gene20277 (Evidence)
UniGene7709
DFCITC1583674
DoTSDT.101713157, DT.484836, DT.91385990, DT.94293907
NIA Mouse Gene IndexU008722
Consensus CDS ProjectCCDS21804.1
International Mouse Knockout Project StatusScnn1b
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000030873 Ensembl Gene Model | MGI Sequence Detail 53405 C57BL/6J ±  kb
transcript ENSMUST00000033161 Ensembl | MGI Sequence Detail 2408 Not Applicable 
polypeptide ENSMUSP00000033161 Ensembl | MGI Sequence Detail 638 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(5) UniProt(3)
Polymorphisms RFLP(2) : SNPs within 2kb(280 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004724 Epithelial sodium channel
InterPro IPR001873 Na+ channel, amiloride-sensitive
InterPro IPR020903 Na+ channel, amiloride-sensitive, conserved site
Protein Ontology PR:000014528 amiloride-sensitive sodium channel subunit beta
References (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:202944 Shi S, et al., Gamma subunit second transmembrane domain contributes to epithelial sodium channel gating and amiloride block. Am J Physiol Renal Physiol. 2013 Dec;305(11):F1585-92
All references(82)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-27059

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory