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Gene

SCNN1B

sodium channel epithelial 1 subunit beta

Summary

Cytogenetic location
16p12.2
Coordinates
Chromosome 16: 23,302,302–23,381,294 (GRCh38)
Exons
13 exons across 79 kb
Protein
640 amino acids
Inheritance
Autosomal dominant
Also known as
ENaCbeta
MANE Select transcript
ENST00000343070.7NM_000336.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Monogenic Hypertension & Mineralocorticoid Disorders

    • Liddle SyndromeAutosomal dominant

      An overactive kidney sodium channel, caused by changes in SCNN1B, SCNN1G or SCNN1A, that leads to early-onset high blood pressure, often with low potassium and low aldosterone.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it points to treatment with amiloride or triamterene, which target the overactive channel directly.

    • Pseudohypoaldosteronism Type 1

      A salt-wasting condition in which the body does not respond to aldosterone, caused by changes in NR3C2 (a milder kidney-limited form) or in the SCNN1 sodium-channel genes (a more severe, multi-organ form).

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports early salt supplementation and monitoring of potassium in infancy.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How SCNN1B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where SCNN1B sits. SCNN1B and 14 genes near it on chromosome 16, from 22,841,798 to 23,841,797.Chromosome 1616p12.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.323 Mb23.2 Mb23.4 Mb23.6 Mb23.8 MbHS3ST2: 22,814,162–23,012,184, forward strandHS3ST2USP31: 23,061,406–23,149,466, reverse strandUSP31SCNN1G: 23,182,677–23,216,883, forward strandSCNN1GSCNN1B: 23,302,302–23,381,294, forward strandSCNN1BCOG7: 23,388,493–23,453,210, reverse strandCOG7GGA2: 23,462,213–23,521,995, reverse strandGGA2EARS2: 23,520,754–23,557,731, reverse strandEARS2UBFD1: 23,557,557–23,574,394, forward strandUBFD1NDUFAB1: 23,580,952–23,596,328, reverse strandNDUFAB1PALB2: 23,603,158–23,641,342, reverse strandPALB2DCTN5: 23,641,380–23,677,472, forward strandDCTN5PLK1: 23,677,656–23,690,372, forward strandPLK1ERN2: 23,688,117–23,713,255, reverse strandERN2CHP2: 23,754,618–23,759,058, forward strandCHP2PRKCB: 23,835,939–24,220,611, forward strandPRKCBDiagram of SCNN1B: 13 exons on the forward strand of chromosome 16Exon 4: 3 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 13: 8 known disease-causing sitesExon 1: 23,302,302–23,302,437, 136 basesExon 2: 23,348,592–23,348,910, 319 basesExon 3: 23,352,801–23,353,074, 274 basesExon 4: 23,355,299–23,355,489, 191 basesExon 5: 23,367,856–23,367,959, 104 basesExon 6: 23,371,299–23,371,462, 164 basesExon 7: 23,371,776–23,371,883, 108 basesExon 8: 23,375,738–23,375,855, 118 basesExon 9: 23,377,165–23,377,240, 76 basesExon 10: 23,377,329–23,377,386, 58 basesExon 11: 23,378,706–23,378,767, 62 basesExon 12: 23,380,094–23,380,169, 76 basesExon 13: 23,380,421–23,381,294, 874 bases1510135′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.6 kb of the gene's 79 kb; 1,923 of those bases code for the protein.

How a genome test reads SCNN1B

20

positions in SCNN1B where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 79 kb of SCNN1B, introns included, not only the 2.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SCNN1B gene: sodium channel epithelial 1 subunit beta. Retrieved 16 October 2026, from https://dantelabs.com/genes/scnn1b

Vancouver

Dante Labs. SCNN1B gene: sodium channel epithelial 1 subunit beta [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/scnn1b

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