SCNN1D (Sodium Channel Epithelial 1 Delta Subunit)
Epithelial Sodium Channel Delta Subunit Gene
Gene Information Card
| Symbol | SCNN1D |
|---|---|
| Full Name | Sodium Channel Epithelial 1 Delta Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 6339 ncbi.nlm.nih.gov/gene/6339 |
| Ensembl ID | ENSG00000162572 |
| UniProt ID | P51172 |
| OMIM ID | 600761 |
| HGNC ID | 10601 |
| Aliases | ENaCdelta, SCNED, dENaC |
Description
SCNN1D (Sodium Channel Epithelial 1 Delta Subunit) is a protein-coding gene that encodes the delta subunit of the epithelial sodium channel (ENaC). This channel mediates sodium reabsorption in various epithelia and is involved in blood pressure regulation, fluid balance, and taste perception. The delta subunit can substitute for the alpha subunit in some tissues, forming functional channels with distinct biophysical properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Liddle Syndrome | Gain-of-function mutations in ENaC subunits increase sodium reabsorption, leading to hypertension. SCNN1D variants may contribute to similar phenotypes. | ClinVar, OMIM |
| Pseudohypoaldosteronism Type 1 | Loss-of-function mutations in ENaC subunits cause salt wasting and hyperkalemia. SCNN1D mutations are rarely reported. | ClinVar, OMIM |
| Hypertension | Polymorphisms in SCNN1D are associated with altered sodium handling and blood pressure regulation. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 0.8 | Low |
| Lung | 2.1 | Medium |
| Colon | 1.5 | Low |
| Prostate | 3.4 | Medium |
| Testis | 0.5 | Low |
| Skin | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.3 | Low expression |
| A549 | 1.8 | Moderate expression |
| Caco-2 | 2.5 | Moderate expression |
| HCT116 | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.143G>A (p.Arg48His) | Missense | <0.01% | Unknown functional effect |
| c.512C>T (p.Thr171Ile) | Missense | <0.01% | Unknown functional effect |
| c.1045G>A (p.Val349Met) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce channel activity, but no confirmed loss-of-function mutations are reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations in SCNN1D are documented.
Dominant Negative (DN)
No dominant-negative mutations have been described for SCNN1D.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005272 – sodium channel activity | • GO:0015280 – ligand-gated sodium channel activity |
| • GO:0006814 – sodium ion transport | • GO:0050896 – response to stimulus |
| • GO:0035725 – sodium ion homeostasis |
Pathways
• Epithelial sodium channel (ENaC) pathway
• Aldosterone-regulated sodium reabsorption
Protein Summary
The SCNN1D protein (ENaC delta subunit) is a 638-amino acid transmembrane protein that forms part of the epithelial sodium channel. It shares structural homology with the alpha subunit but exhibits different gating properties and tissue distribution. The delta subunit can assemble with beta and gamma subunits to form functional channels that are less sensitive to amiloride than alpha-containing channels. It is expressed in kidney, lung, colon, and other tissues, contributing to sodium transport and blood pressure regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCNN1D Knockout HEK293 Cell Line | EDJ-KQ3283 | Human | 6339 | Details Get a Quote |
| SCNN1D Knockout HeLa Cell Line | EDJ-KQ23458 | Human | 6339 | Details Get a Quote |
| SCNN1D Knockout A-549 Cell Line | EDJ-KQ24845 | Human | 6339 | Details Get a Quote |
| SCNN1D Knockout HCT 116 Cell Line | EDJ-KQ24846 | Human | 6339 | Details Get a Quote |
| SCNN1D Knockout HAP1 Cell Line | EDC08173 | Human | 6339 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
