SCNN1D (sodium channel epithelial 1 subunit delta)

2003-05-01  

Identity

HGNC
SCNN1D
LOCATION
1p36.33
LOCUSID
6339
ALIAS
ENaCd,ENaCdelta,SCNED,dNaCh

Other Information

Locus ID:

NCBI: 6339
MIM: 601328
HGNC: 10601
Ensembl: ENSG00000162572

Variants:

dbSNP: 6339
ClinVar: 6339
TCGA: ENSG00000162572
COSMIC: SCNN1D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162572ENST00000325425P51172
ENSG00000162572ENST00000338555P51172
ENSG00000162572ENST00000379099H0Y3F1
ENSG00000162572ENST00000379101F8VWH5
ENSG00000162572ENST00000379116P51172
ENSG00000162572ENST00000400928P51172
ENSG00000162572ENST00000470022C9JDY8

Expression (GTEx)

0
10
20
30
40
50
60
70
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
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
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

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
164238242006Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction.43
146452142004Identification of Murr1 as a regulator of the human delta epithelial sodium channel.30
193593702009Regulation of epithelial sodium channels by cGMP/PKGII.24
150845852004Degenerin sites mediate proton activation of deltabetagamma-epithelial sodium channel.23
147265232004Protons activate the delta-subunit of the epithelial Na+ channel in humans.22
197175562009The delta-subunit of the epithelial sodium channel (ENaC) enhances channel activity and alters proteolytic ENaC activation.21
174726992007Cloning and functional expression of a new epithelial sodium channel delta subunit isoform differentially expressed in neurons of the human and monkey telencephalon.17
153086352004Capsazepine is a novel activator of the delta subunit of the human epithelial Na+ channel.15
206312472010The neuronal-specific SGK1.1 kinase regulates {delta}-epithelial Na+ channel independently of PY motifs and couples it to phospholipase C signaling.14

Citation

Dessen P

SCNN1D (sodium channel epithelial 1 subunit delta)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42216/scnn1d