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

    Gene ID: 6338, updated on 28-Sep-2022

    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; AllianceGenome:HGNC:10600
    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; beta-ENaC; beta-NaCH
    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
    NEW
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    Genomic context

    See SCNN1B in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23278231..23381294)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (23578195..23657344)
    105.20220307 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 uncharacterized LOC124903667

    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 acidic pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to aldosterone IC
    Inferred by Curator
    more info
    PubMed 
    involved_in cellular response to amiloride IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to vasopressin IC
    Inferred by Curator
    more info
    PubMed 
    involved_in cellular sodium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 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 regulation of blood pressure IC
    Inferred by Curator
    more info
    PubMed 
    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 salty taste IC
    Inferred by Curator
    more info
    PubMed 
    involved_in sensory perception of sour taste IC
    Inferred by Curator
    more info
    PubMed 
    involved_in sodium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sodium ion import across plasma membrane 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 ISS
    Inferred from Sequence or Structural Similarity
    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 plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    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 
    part_of sodium channel complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    amiloride-sensitive sodium channel subunit beta
    Names
    amiloride-sensitive sodium channel subunit beta 1
    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)

    NEW Try the new Transcript table

    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_011908.2 RefSeqGene

      Range
      29073..108065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      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, Q9UMU5
      UniProtKB/TrEMBL
      B2R812
      Related
      ENSP00000345751.2, ENST00000343070.7
      Conserved Domains (1) summary
      TIGR00859
      Location:21623
      ENaC; sodium channel transporter
    2. NM_001410900.1NP_001397829.1  amiloride-sensitive sodium channel subunit beta isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC008915, AC130452

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      23278231..23381294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023525.2XP_016879014.1  amiloride-sensitive sodium channel subunit beta isoform X1

    2. XM_011545913.3XP_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
    3. XM_047434445.1XP_047290401.1  amiloride-sensitive sodium channel subunit beta isoform X4

      UniProtKB/TrEMBL
      H3BQ95
      Related
      ENSP00000455673.1, ENST00000568085.5
    4. XM_011545914.2XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      23578195..23657344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)