Sodium Channel, Epithelial 1, Beta Subunit

Alternative Names

SCNN1B
Sodium Channel, Nonvoltage-Gated 1, Beta Subunit
SCNEB

Length

103,065 bases

No. of Exons

No. of isoforms

Protein Name

Amiloride-sensitive sodium channel subunit beta

Molecular Mass

72659 Da

Amino Acid Count

640

Genomic Location

chr16:23,278,231-23,381,295

Gene Map Locus

16p12.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000336.2:c.1402G>A	United Arab Emirates	NC_000016.10:g.23377384G>A		Likely Pathogenic	Bronchiectasis with or without Elevated Sweat Chloride 1	NG_011908.1:g.80115G>A; NM_000336.2:c.1402G>A; NP_000327.2:p.Glu468Lys	372687977
NM_000336.2:c.1871G>A	United Arab Emirates	NC_000016.10:g.23380749G>A		Uncertain Significance	Bronchiectasis with or without Elevated Sweat Chloride 1	NG_011908.1:g.83480G>A; NM_000336.2:c.1871G>A; NP_000327.2:p.Arg624His	549675452
NM_000336.2:c.616C>T	United Arab Emirates	NC_000016.10:g.23355329C>T		Likely Pathogenic	Bronchiectasis with or without Elevated Sweat Chloride 1	NG_011908.1:g.58060C>T; NM_000336.2:c.616C>T; NP_000327.2:p.Arg206Trp	756809433
NM_000336.3:c.1542+1G>A	Lebanon	chr16:23380170	Likely Pathogenic	Likely Pathogenic	Pseudohypoaldosteronism, Type I, Autosomal Recessive	NG_011908.1:g.82901G>A; NM_000336.3:c.1542+1G>A		870735

Download Table

External Links

https://medlineplus.gov/genetics/gene/scnn1b/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCNN1B https://www.ncbi.nlm.nih.gov/gene/6338

Contributors

Sami Bizzari: 18.07.2022
Pratibha Nair: 15.02.2022
Pratibha Nair: 24.11.2020

Edit History

Sami Bizzari: 18.07.2022
Pratibha Nair: 15.02.2022
Pratibha Nair: 24.11.2020
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

Back to search Result