U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 6338, updated on 17-Jun-2024

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; PHA1B2; 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
Try the new Gene table
Try the new Transcript table

Genomic context

See SCNN1B in Genome Data Viewer
Location:
16p12.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23278231..23381294)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (23554125..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 H3K4me1 hESC enhancer GRCh37_chr16:23079291-23079792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:23104917-23105463 Neighboring gene ubiquitin specific peptidase 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23183549-23184050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23197073-23197574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23197575-23198074 Neighboring gene sodium channel epithelial 1 subunit gamma Neighboring gene Sharpr-MPRA regulatory region 8546 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:23291226-23291748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23312821-23313338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23313339-23313855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23359541-23360042 Neighboring gene Sharpr-MPRA regulatory region 1348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23391379-23391880 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:23410440-23411363 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:23435589-23436134 Neighboring gene component of oligomeric golgi complex 7 Neighboring gene RN7SK pseudogene 23 Neighboring gene uncharacterized LOC124903667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10581

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

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 NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cellular response to vasopressin NAS
Non-traceable Author Statement
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 intracellular sodium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
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-level 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 NAS
Non-traceable Author Statement
more info
PubMed 
involved_in renal system process 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 salty taste NAS
Non-traceable Author Statement
more info
PubMed 
involved_in sensory perception of sour taste NAS
Non-traceable Author Statement
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
 
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 
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
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane NAS
Non-traceable Author Statement
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
 
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
    C5HTZ2, O60891, P51168, Q96KG2, Q9UJ32, Q9UMU5
    UniProtKB/TrEMBL
    A5X2V0, 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
    Consensus CDS
    CCDS92127.1
    UniProtKB/TrEMBL
    A5X2V0, H3BQ95
    Related
    ENSP00000455673.1, ENST00000568085.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    UniProtKB/TrEMBL
    A5X2V0
  2. XM_011545913.3XP_011544215.1  amiloride-sensitive sodium channel subunit beta isoform X2

    UniProtKB/TrEMBL
    A5X2V0
    Related
    ENSP00000302874.5, ENST00000307331.9
    Conserved Domains (2) summary
    TIGR00859
    Location:32634
    ENaC; sodium channel transporter
    TIGR00867
    Location:40551
    deg-1; degenerin
  3. XM_011545914.2XP_011544216.1  amiloride-sensitive sodium channel subunit beta isoform X3

    UniProtKB/TrEMBL
    A5X2V0
    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
    23554125..23657344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313591.1XP_054169566.1  amiloride-sensitive sodium channel subunit beta isoform X1

    UniProtKB/TrEMBL
    A5X2V0
  2. XM_054313592.1XP_054169567.1  amiloride-sensitive sodium channel subunit beta isoform X2

    UniProtKB/TrEMBL
    A5X2V0
  3. XM_054313593.1XP_054169568.1  amiloride-sensitive sodium channel subunit beta isoform X3

    UniProtKB/TrEMBL
    A5X2V0