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:20280  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

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; chr16:23313591-23392620 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human SCNN1B

Alleles and phenotypes

All alleles(8) : Targeted(8)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (28 annotations)

Process	ion transport, regulation of sodium ion transport, ...
Component	apical plasma membrane, cell surface, ...
Function	ion channel activity, ligand-gated sodium channel activity, ...

External Resources: FuncBase

Expression

Literature Summary: (10 records)
Data Summary: Results (110)    Tissues (83)    Images (7)
Theiler Stages: 17, 21, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	77
RT-PCR	3
RNase protection	30

cDNA source data(21)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(24) cDNA(22) Primer pair(1) Other(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000030873 (Evidence)
Entrez Gene	20277 (Evidence)
UniGene	7709
DFCI	TC1583674
DoTS	DT.101713157, DT.484836, DT.91385990, DT.94293907
NIA Mouse Gene Index	U008722
Consensus CDS Project	CCDS21804.1
International Mouse Knockout Project Status	Scnn1b

Sequences

Length	Strain/Species
genomic	ENSMUSG00000030873	Ensembl Gene Model | MGI Sequence Detail	53405	C57BL/6J
transcript	ENSMUST00000033161	Ensembl | MGI Sequence Detail	2408	Not Applicable
polypeptide	ENSMUSP00000033161	Ensembl | MGI Sequence Detail	638	Not Applicable

All sequences(26) RefSeq(5) UniProt(3)

Polymorphisms

RFLP(2) : SNPs(230 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:187011 Rajagopal M, et al., Differential effects of extracellular ATP on chloride transport in cortical collecting duct cells. Am J Physiol Renal Physiol. 2012 Aug;303(4):F483-91
All references(75)

Other accession IDs

MGD-MRK-27059