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SCNN1B sodium channel epithelial 1 subunit beta [ Homo sapiens (human) ]

Gene ID: 6338, updated on 22-Aug-2021

Summary

Official Symbol
SCNN1Bprovided by HGNC
Official Full Name
sodium channel epithelial 1 subunit betaprovided by HGNC
Primary source
HGNC:HGNC:10600
See related
Ensembl:ENSG00000168447 MIM:600760
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BESC1; ENaCb; SCNEB; LIDLS1; ENaCbeta
Summary
Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
Expression
Biased expression in esophagus (RPKM 18.7), colon (RPKM 18.2) and 11 other tissues See more
Orthologs
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Genomic context

See SCNN1B in Genome Data Viewer
Location:
16p12.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (23278231..23381295)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23313623..23392615)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 31 Neighboring gene sodium channel epithelial 1 subunit gamma Neighboring gene component of oligomeric golgi complex 7 Neighboring gene RN7SK pseudogene 23 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 2 Neighboring gene cyclin Y like 7 (pseudogene)

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables WW domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ligand-gated sodium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in aldosterone metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in artery smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to aldosterone IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial fluid transport IEA
Inferred from Electronic Annotation
more info
 
involved_in erythrocyte homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in excretion TAS
Traceable Author Statement
more info
PubMed 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in leukocyte activation involved in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in mucus secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organismal water homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neutrophil activation involved in immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in neutrophil-mediated killing of bacterium IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in response to food IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of taste IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sodium ion transport TAS
Traceable Author Statement
more info
PubMed 
involved_in urea homeostasis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of plasma membrane protein complex IEA
Inferred from Electronic Annotation
more info
 
part_of sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of sodium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
amiloride-sensitive sodium channel subunit beta
Names
amiloride-sensitive sodium channel subunit beta 1
beta-ENaC
beta-NaCH
epithelial Na(+) channel subunit beta
epithelial sodium channel beta-2 subunit
epithelial sodium channel beta-3 subunit
mutant sodium channel epithelial 1 beta subunit
nasal epithelial sodium channel beta subunit
nonvoltage-gated sodium channel 1 subunit beta
sodium channel epithelial 1 beta subunit
sodium channel, non-voltage-gated 1, beta subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011908.1 RefSeqGene

    Range
    5033..84025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000336.3NP_000327.2  amiloride-sensitive sodium channel subunit beta

    See identical proteins and their annotated locations for NP_000327.2

    Status: REVIEWED

    Source sequence(s)
    AU105979, BC036352, L36593
    Consensus CDS
    CCDS10609.1
    UniProtKB/Swiss-Prot
    P51168
    UniProtKB/TrEMBL
    B2R812
    Related
    ENSP00000345751.2, ENST00000343070.7
    Conserved Domains (1) summary
    TIGR00859
    Location:21623
    ENaC; sodium channel transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    23278231..23381295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023525.1XP_016879014.1  amiloride-sensitive sodium channel subunit beta isoform X1

  2. XM_017023526.1XP_016879015.1  amiloride-sensitive sodium channel subunit beta isoform X4

    Related
    ENSP00000455673.1, ENST00000568085.5
  3. XM_011545913.2XP_011544215.1  amiloride-sensitive sodium channel subunit beta isoform X2

    Related
    ENSP00000302874.5, ENST00000307331.9
    Conserved Domains (2) summary
    TIGR00859
    Location:32634
    ENaC; sodium channel transporter
    TIGR00867
    Location:40551
    deg-1; degenerin
  4. XM_011545914.1XP_011544216.1  amiloride-sensitive sodium channel subunit beta isoform X3

    Conserved Domains (2) summary
    TIGR00859
    Location:27629
    ENaC; sodium channel transporter
    TIGR00867
    Location:35546
    deg-1; degenerin
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