SCNN1A (sodium channel epithelial 1 subunit alpha)

2007-02-01  

Identity

HGNC
SCNN1A
LOCATION
12p13.31
LOCUSID
6337
ALIAS
BESC2,ENaCa,ENaCalpha,LIDLS3,SCNEA,SCNN1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6337
MIM: 600228
HGNC: 10599
Ensembl: ENSG00000111319

Variants:

dbSNP: 6337
ClinVar: 6337
TCGA: ENSG00000111319
COSMIC: SCNN1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111319ENST00000228916P37088
ENSG00000111319ENST00000338748C5HTZ1
ENSG00000111319ENST00000360168P37088
ENSG00000111319ENST00000396966J3KPV6
ENSG00000111319ENST00000536788F5H5F8
ENSG00000111319ENST00000540037F5GXE6
ENSG00000111319ENST00000543768P37088

Expression (GTEx)

0
50
100
150
200
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

PathwaySourceExternal ID
Taste transductionKEGGko04742
Taste transductionKEGGhsa04742
Aldosterone-regulated sodium reabsorptionKEGGko04960
Aldosterone-regulated sodium reabsorptionKEGGhsa04960
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134875400WNK4GenePathwayassociated23788015
PA31534NEDD4LGenePathwayassociated23788015
PA33782WNK1GenePathwayassociated23788015
PA448368amilorideChemicalPathwayassociated23788015
PA451752triamtereneChemicalPathwayassociated23788015

References

Pubmed IDYearTitleCitations
371341412023A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.0
372804742023Activation of SGK1/ENaC Signaling Pathway Improves the Level of Decidualization in Unexplained Recurrent Spontaneous Abortion.2
378432572023Association between low-sodium salt intervention and long-term blood pressure changes is modified by ENaC genetic variation: a gene-diet interaction analysis in a randomized controlled trial.1
371341412023A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.0
372804742023Activation of SGK1/ENaC Signaling Pathway Improves the Level of Decidualization in Unexplained Recurrent Spontaneous Abortion.2
378432572023Association between low-sodium salt intervention and long-term blood pressure changes is modified by ENaC genetic variation: a gene-diet interaction analysis in a randomized controlled trial.1
357146972022Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in pancreatic cancer via accelerating cellular growth and metastasis.1
361937392022Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function.10
357146972022Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in pancreatic cancer via accelerating cellular growth and metastasis.1
361937392022Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function.10
334869882021Epithelial Sodium Channel and Salt-Sensitive Hypertension.40
336301952021The epithelial sodium channel has a role in breast cancer cell proliferation.12
339165252021DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes.9
341347422021Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town.17
345586412021HOXD9‑induced SCNN1A upregulation promotes pancreatic cancer cell proliferation, migration and predicts prognosis by regulating epithelial‑mesenchymal transformation.7

Citation

Dessen P

SCNN1A (sodium channel epithelial 1 subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45544/scnn1a-(sodium-channel-epithelial-1-subunit-alpha)