SCNN1B (sodium channel epithelial 1 subunit beta)

2008-10-01 Affiliation

Identity

HGNC

SCNN1B

LOCATION

16p12.2

LOCUSID

6338

ALIAS

BESC1,ENaCb,ENaCbeta,LIDLS1,SCNEB

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6338
MIM: 600760
HGNC: 10600
Ensembl: ENSG00000168447

Variants:

dbSNP: 6338
ClinVar: 6338
TCGA: ENSG00000168447
COSMIC: SCNN1B

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000168447	ENST00000307331	P51168
ENSG00000168447	ENST00000343070	P51168
ENSG00000168447	ENST00000343070	B2R812
ENSG00000168447	ENST00000564275	H3BUQ8
ENSG00000168447	ENST00000566441	A0A087WZI2
ENSG00000168447	ENST00000568085	H3BQ95
ENSG00000168447	ENST00000568923	H3BRM4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Taste transduction	KEGG	ko04742
Taste transduction	KEGG	hsa04742
Aldosterone-regulated sodium reabsorption	KEGG	ko04960
Aldosterone-regulated sodium reabsorption	KEGG	hsa04960
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Stimuli-sensing channels	REACTOME	R-HSA-2672351

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA134875400	WNK4	Gene	Pathway	associated		23788015
PA165815771	Farglitazar	Chemical	ClinicalAnnotation	associated	PD	18004211
PA31534	NEDD4L	Gene	Pathway	associated		23788015
PA33782	WNK1	Gene	Pathway	associated		23788015
PA443890	Diabetes Mellitus, Type 2	Disease	ClinicalAnnotation	associated	PD	18004211
PA448368	amiloride	Chemical	Pathway	associated		23788015
PA449782	glibenclamide	Chemical	ClinicalAnnotation	associated	PD	18004211
PA451752	triamterene	Chemical	Pathway	associated		23788015

References

Pubmed ID	Year	Title	Citations
36564468	2023	The sodium channel subunit SCNN1B suppresses colorectal cancer via suppression of active c-Raf and MAPK signaling cascade.	4
36774301	2023	Identification of a novel frameshift mutation in the SCNN1B causing Liddle syndrome.	1
36899055	2023	Genetic variation in salt taste receptors impact salt intake and blood pressure.	0
37477776	2023	SCNN1B regulates the proliferation, migration, and collagen deposition of human lung fibroblasts.	0
36564468	2023	The sodium channel subunit SCNN1B suppresses colorectal cancer via suppression of active c-Raf and MAPK signaling cascade.	4
36774301	2023	Identification of a novel frameshift mutation in the SCNN1B causing Liddle syndrome.	1
36899055	2023	Genetic variation in salt taste receptors impact salt intake and blood pressure.	0
37477776	2023	SCNN1B regulates the proliferation, migration, and collagen deposition of human lung fibroblasts.	0
35462606	2022	Downregulation of epithelial sodium channel (ENaC) activity in cystic fibrosis cells by epigenetic targeting.	5
36193739	2022	Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function.	10
35462606	2022	Downregulation of epithelial sodium channel (ENaC) activity in cystic fibrosis cells by epigenetic targeting.	5
36193739	2022	Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function.	10
33916525	2021	DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes.	9
34111567	2021	Integrative analyses identified ion channel genes GJB2 and SCNN1B as prognostic biomarkers and therapeutic targets for lung adenocarcinoma.	15
34223773	2021	A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome.	2

Citation

Dessen P

SCNN1B (sodium channel epithelial 1 subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50400/scnn1b-(sodium-channel-epithelial-1-subunit-beta)