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SCNN1D - sodium channel epithelial 1 subunit delta Gene

Also Known as ENaCd; SCNED; dNaCh; ENaCdelta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6339

About SCNN1D

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,280,436-1,292,025 (from NCBI)

This gene has 8 transcripts (splice variants), 113 orthologues and 8 paralogues. Broad expression in testis (RPKM 4.7), brain (RPKM 1.6) and 23 other tissues.

Summary

Predicted to enable ligand-gated Sodium Channel activity. Predicted to be involved in sodium ion transmembrane transport. Located in actin Cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SCNN1D Products (1)

mRNA	Protein	Name
NM_001130413.4	NP_001123885.2	amiloride-sensitive sodium channel subunit delta

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	14645214	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in cellular response to acidic pH	IDA IDA: Inferred from direct assay	16423824	GOA
involved in intracellular sodium ion homeostasis	IDA IDA: Inferred from direct assay	16423824	GOA
involved in sodium ion import across plasma membrane	IDA IDA: Inferred from direct assay	16423824	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in membrane	IDA IDA: Inferred from direct assay	19812697	GOA
part of sodium channel complex	IDA IDA: Inferred from direct assay	16423824	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SCNN1D Protein Structure

ASC

0
100
200
300
400
500
600
638 a.a.

Protein Preferred Names	Protein Names
amiloride-sensitive sodium channel subunit delta	delta-ENaC

SCNN1D Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	SCNN1D	P51172	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	14645214
Intra	SCNN1D	P51172	COMMD1	Homo sapiens	Q8N668	Y2H	14645214

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal Obesity-Metabolic Syndrome Abdominal Obesity Metabolic Syndrome Metabolic Syndrome X Aoms2 Aoms1
Liddle Syndrome 1	Liddle Syndrome Pseudoaldosteronism Liddle'S Syndrome LIDLS1 Lidls Pseudohyperaldosteronism Pseudoprimary Hyperaldosteronism Pseudohyperaldosteronism Type 1 Liddles Syndrome
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic Kidney Disease 1 PKD1 Adpkd Polycystic Kidney Disease, Adult, Type I Apkd1 Potter Type Iii Polycystic Kidney Disease Polycystic Kidney Disease, Adult Potter Type Iii Polycystic Kidney Disease, Formerly Polycystic Kidney Disease, Type 1 Adpkd1 Adult Polycystic Kidney Disease Type 1 Autosomal Dominant Polycystic Kidney Disease 1 Pkd-1 Polycystic Kidney Disease Adult Polycystic Kidney Disease Type I Polycystic Kidneys Polycystic Kidney Disease, Adult Type I Polycystic Kidney Type 1 Autosomal Dominant Disease Kidney Disease, Polycystic, Type 1 Polycystic Kidney, Autosomal Dominant Polycystic Kidney, Type 1 Autosomal Dominant Disease Polycystic Kidney Diseases

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS12554	SCNN1D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown