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FLASH GENE

Symbol

SCNN1B

contributors: mct - updated : 19-04-2017

HGNC name	sodium channel, nonvoltage-gated 1, beta
HGNC id	10600

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PHA1A1 pseudohypoaldosteronism, type 1 PSALD pseudoaldosteronism, Liddle syndrome
Location	16p12.2      Physical location : 23.313.590 - 23.392.619
Synonym name	epithelial sodium channel beta-3 subunit
	sodium channel, nonvoltage-gated 1, beta
	nasal epithelial sodium channel beta subunit
Synonym symbol(s)	ENaCb, ENaCbeta, SCNEB, BESC1

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	79.03 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

provisional

Map	pter - D16S287 - D16S501 - D16S412 - D16S417 ,D16S403 - D16S420 ,SCNN1B ,SCNN1G - D16S319 - D16S401 - cen
Authors	Strautnieks (96)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000336 13 - 2597 NP_000327 72.6 640 - Saxena (1998)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     highly   pharynx       highly Endocrine pancreas         Reproductive male system prostate       Respiratory lung         Urinary kidney tubule collecting duct   highly   kidney tubule convoluted tubule proximal tubule highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Urinary epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	(at least) two membrane spanning segments
	several glycosylation and a nucleotide binding sites
	a N terminal cluster of negatively charged AA
	a C terminal cluster of positively charged AA, forming a cytosolic domain reactive at the plasma membrane
	a conserved proline-rich aminoacid sequence (PxPY motif), inhibiting Na+ reabsorption by interacting with NEDD4

mono polymer

heteromer , tetramer

HOMOLOGY

Homologene

FAMILY	degenerin/ENaC superfamily
	amiloride-sensitive cation channels

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	luminal membrane of the collecting tubule of kidney, apical membrane

basic FUNCTION

epithelial amiloride-sensitive sodium channel, non-voltage, regulating blood volume and pressure (Na absorption, inhibition)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

PATHWAY

metabolism

signaling

a component

component of a heterotetramer including two SCNN1A, one SCNN1B and one SCNN1G

INTERACTION

DNA

RNA

small molecule

protein	NEDD4 binding
	PCSK9 inhibits ENaC (SCNN1A, SCNN1B, SCNN1G) current by reducing the number of channels at the cell surface
	CNKSR3 physically interacts with SCNN1A, B, D, NEDD4L, and SGK1 and stimulates SCNN1A, SCNN1B, SCNN1D function in a PDZ domain-dependent, aldosterone-induced manner

cell & other

REGULATION

Other

responsive to aldosterone

ASSOCIATED DISORDERS

corresponding disease(s)

PHA1A1 , PSALD

Susceptibility

Variant & Polymorphism

Candidate gene	could be a modifier gene in cystic fibrosis
Marker
Therapy target

ANIMAL & CELL MODELS