Aliases for SCNN1D Gene

Aliases for SCNN1D Gene

  • Sodium Channel Epithelial 1 Subunit Delta 2 3 5
  • Amiloride-Sensitive Sodium Channel Subunit Delta 3 4
  • Nonvoltage-Gated Sodium Channel 1 Subunit Delta 3 4
  • Epithelial Na(+) Channel Subunit Delta 3 4
  • Delta-ENaC 3 4
  • Delta-NaCH 3 4
  • ENaCdelta 2 3
  • SCNED 3 4
  • DNaCh 2 3
  • Sodium Channel, Voltage-Gated, Type I, Delta Polypeptide 3
  • Sodium Channel, Non-Voltage-Gated 1, Delta Subunit 3
  • Sodium Channel, Non Voltage Gated 1 Delta Subunit 2
  • Sodium Channel Epithelial 1 Delta Subunit 3
  • Sodium Channel, Nonvoltage-Gated 1, Delta 3
  • SCNN1D 5
  • ENaCd 3
  • DNACH 4
  • ENaCD 4

External Ids for SCNN1D Gene

Previous GeneCards Identifiers for SCNN1D Gene

  • GC01P000746
  • GC01P000969
  • GC01P001092
  • GC01P001124
  • GC01P001125
  • GC01P001255
  • GC01P001204
  • GC01P001215
  • GC01P000489

Summaries for SCNN1D Gene

GeneCards Summary for SCNN1D Gene

SCNN1D (Sodium Channel Epithelial 1 Subunit Delta) is a Protein Coding gene. Diseases associated with SCNN1D include Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 and Liddle Syndrome 1. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Ion channel transport. Gene Ontology (GO) annotations related to this gene include sodium channel activity and ligand-gated sodium channel activity. An important paralog of this gene is SCNN1A.

UniProtKB/Swiss-Prot Summary for SCNN1D Gene

  • Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.

Tocris Summary for SCNN1D Gene

  • Epithelial sodium channels (ENaCs) are members of the ENaC/Deg (epithelial amiloride-sensitive Na+ channel and degenerin) family of ion channels. They are highly selective Na+ channels that are localized to polarized epithelial cells. ENaCs are responsible for Na+ reabsorption in the distal kidney tubule, and transport of Na+ across the epithelium.

Gene Wiki entry for SCNN1D Gene

No data available for Entrez Gene Summary , CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCNN1D Gene

Genomics for SCNN1D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SCNN1D Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCNN1D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCNN1D

Top Transcription factor binding sites by QIAGEN in the SCNN1D gene promoter:
  • ATF6
  • ITF-2
  • LCR-F1
  • NF-1
  • Tal-1beta

Genomic Locations for SCNN1D Gene

Latest Assembly
chr1:1,280,436-1,292,029
(GRCh38/hg38)
Size:
11,594 bases
Orientation:
Plus strand

Previous Assembly
chr1:1,215,816-1,227,405
(GRCh37/hg19 by Entrez Gene)
Size:
11,590 bases
Orientation:
Plus strand

chr1:1,215,816-1,227,409
(GRCh37/hg19 by Ensembl)
Size:
11,594 bases
Orientation:
Plus strand

Genomic View for SCNN1D Gene

Genes around SCNN1D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCNN1D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCNN1D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCNN1D Gene

Proteins for SCNN1D Gene

  • Protein details for SCNN1D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51172-SCNND_HUMAN
    Recommended name:
    Amiloride-sensitive sodium channel subunit delta
    Protein Accession:
    P51172
    Secondary Accessions:
    • A6NNF7
    • A9Z1X6
    • B1PS44
    • B3KSD7
    • Q08AQ3
    • Q09HT0
    • Q5T7L3
    • Q8NA24

    Protein attributes for SCNN1D Gene

    Size:
    802 amino acids
    Molecular mass:
    87850 Da
    Quaternary structure:
    • Heterotrimer containing a delta/SCNN1D, a beta/SCNN1B and a gamma/SCNN1G subunit. The additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties.
    Miscellaneous:
    • [Isoform 2]: Channels including isoform 2 exhibit greater conductance than those containing isoform 1.

    Alternative splice isoforms for SCNN1D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCNN1D Gene

Post-translational modifications for SCNN1D Gene

  • Glycosylation at Asn330 and Asn548
  • Modification sites at PhosphoSitePlus

Other Protein References for SCNN1D Gene

No data available for DME Specific Peptides for SCNN1D Gene

Domains & Families for SCNN1D Gene

Gene Families for SCNN1D Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SCNN1D Gene

InterPro:
Blocks:
  • Na+ channel, amiloride-sensitive

Suggested Antigen Peptide Sequences for SCNN1D Gene

GenScript: Design optimal peptide antigens:
  • Sodium channel, nonvoltage-gated 1, delta (B1AMF2_HUMAN)
  • Sodium channel, nonvoltage-gated 1, delta (B1AMF4_HUMAN)
  • cDNA FLJ45431 fis, clone BRHIP3039509, highly similar to Amiloride-sensitive sodium channel subunit delta (B1PS44_HUMAN)
  • Sodium channel nonvoltage-gated 1 delta (Q09HT0_HUMAN)
  • Sodium channel nonvoltage-gated 1 delta (Q09HT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51172

UniProtKB/Swiss-Prot:

SCNND_HUMAN :
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1D subfamily.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1D subfamily.
genes like me logo Genes that share domains with SCNN1D: view

Function for SCNN1D Gene

Molecular function for SCNN1D Gene

UniProtKB/Swiss-Prot Function:
Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.
GENATLAS Biochemistry:
epithelial amiloride-sensitive sodium channel,non-voltage gated,isoform delta,expressed in ovary,testis,pancreas,brain,homolog to C elegans degenerin,putatively involved in neurodegeneration

Phenotypes From GWAS Catalog for SCNN1D Gene

Gene Ontology (GO) - Molecular Function for SCNN1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005272 sodium channel activity IEA --
GO:0005515 protein binding IPI 14645214
GO:0015280 ligand-gated sodium channel activity TAS,IBA 21873635
genes like me logo Genes that share ontologies with SCNN1D: view
genes like me logo Genes that share phenotypes with SCNN1D: view

miRNA for SCNN1D Gene

miRTarBase miRNAs that target SCNN1D

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCNN1D

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SCNN1D Gene

Localization for SCNN1D Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCNN1D Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCNN1D gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
extracellular 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SCNN1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0015629 actin cytoskeleton IDA --
GO:0016020 membrane IDA 19812697
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SCNN1D: view

Pathways & Interactions for SCNN1D Gene

PathCards logo

SuperPathways for SCNN1D Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.56
2 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
3 Ion channel transport
4 G-Beta Gamma Signaling
.46
5 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
genes like me logo Genes that share pathways with SCNN1D: view

Pathways by source for SCNN1D Gene

2 GeneGo (Thomson Reuters) pathways for SCNN1D Gene
  • CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
  • NO-dependent CFTR activation (normal and CF)
7 Qiagen pathways for SCNN1D Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • cAMP Pathway
  • Cholera Infection
  • GHRH Signaling

Gene Ontology (GO) - Biological Process for SCNN1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport TAS 7499195
GO:0034220 ion transmembrane transport TAS --
GO:0035725 sodium ion transmembrane transport IBA 21873635
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with SCNN1D: view

No data available for SIGNOR curated interactions for SCNN1D Gene

Drugs & Compounds for SCNN1D Gene

(7) Drugs for SCNN1D Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Target, inhibitor, blocker 61
Triamterene Approved Pharma Target, inhibitor, blocker 6
GS-9411 Pharma 0
P-552 Pharma 0
Benzamil Pharma NCX inhibitor, Deg/ENaC channel blocker; amiloride (Cat. No. 0890) derivative 0

(2) Additional Compounds for SCNN1D Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5
PA 1 dihydrochloride

(4) Tocris Compounds for SCNN1D Gene

Compound Action Cas Number
Benzamil NCX inhibitor, Deg/ENaC channel blocker; amiloride (Cat. No. 0890) derivative 161804-20-2
Capsazepine Vanilloid receptor antagonist; also activator of ENaCdelta 138977-28-3
PA 1 dihydrochloride Photoswitchable ENaC blocker
Phenamil Inhibits TRPP3-mediated currents; also inhibits epithelial Na+ channels 1161-94-0

(1) ApexBio Compounds for SCNN1D Gene

Compound Action Cas Number
Amiloride HCl 2016-88-8
genes like me logo Genes that share compounds with SCNN1D: view

Drug products for research

Transcripts for SCNN1D Gene

mRNA/cDNA for SCNN1D Gene

2 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCNN1D

Alternative Splicing Database (ASD) splice patterns (SP) for SCNN1D Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - - -
SP2: - - - -
SP3: - - - - - -
SP4: -
SP5:
SP6: - - - - -
SP7:
SP8:

ExUns: 17 ^ 18 ^ 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SCNN1D Gene

GeneLoc Exon Structure for
SCNN1D

Expression for SCNN1D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SCNN1D Gene

mRNA differential expression in normal tissues according to GTEx for SCNN1D Gene

This gene is overexpressed in Testis (x4.1).

Protein differential expression in normal tissues from HIPED for SCNN1D Gene

This gene is overexpressed in Cerebrospinal fluid (46.7), Adipocyte (13.8), and Heart (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SCNN1D Gene



Protein tissue co-expression partners for SCNN1D Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SCNN1D

SOURCE GeneReport for Unigene cluster for SCNN1D Gene:

Hs.512681

Evidence on tissue expression from TISSUES for SCNN1D Gene

  • Nervous system(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with SCNN1D: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SCNN1D Gene

Orthologs for SCNN1D Gene

This gene was present in the common ancestor of animals.

Orthologs for SCNN1D Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SCNN1D 29 30
  • 99.03 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SCNN1D 29 30
  • 76.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SCNN1D 29 30
  • 76.2 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SCNN1D 30
  • 51 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SCNN1D 30
  • 48 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SCNN1D 29 30
  • 57.01 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496702 29
  • 51.53 (n)
Worm
(Caenorhabditis elegans)
Secernentea del-4 30
  • 18 (a)
ManyToMany
asic-2 30
  • 18 (a)
ManyToMany
del-1 30
  • 15 (a)
ManyToMany
unc-8 30 31
  • 15 (a)
ManyToMany
mec-4 30 31
  • 14 (a)
ManyToMany
asic-1 30
  • 14 (a)
ManyToMany
unc-105 30
  • 14 (a)
ManyToMany
deg-1 30
  • 14 (a)
ManyToMany
mec-10 30
  • 13 (a)
ManyToMany
Species where no ortholog for SCNN1D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for SCNN1D Gene

ENSEMBL:
Gene Tree for SCNN1D (if available)
TreeFam:
Gene Tree for SCNN1D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SCNN1D: view image
Alliance of Genome Resources:
Additional Orthologs for SCNN1D

Paralogs for SCNN1D Gene

Paralogs for SCNN1D Gene

(3) SIMAP similar genes for SCNN1D Gene using alignment to 7 proteins:

  • SCNND_HUMAN
  • A6NNF7_HUMAN
  • C9JDY8_HUMAN
  • F8VWH5_HUMAN
  • H0Y3F1_HUMAN
  • I6L9J9_HUMAN
  • Q09HT1_HUMAN
genes like me logo Genes that share paralogs with SCNN1D: view

Variants for SCNN1D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCNN1D Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1053844 -- p.Cys696Tyr
rs11260579 -- p.Arg344Pro
rs13306651 -- p.Ala636Thr
rs2228579 -- p.Glu544Gln
rs609805 -- p.Gly770Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SCNN1D Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SCNN1D Gene

Variant ID Type Subtype PubMed ID
dgv1e199 CNV deletion 23128226
dgv25n54 CNV loss 21841781
dgv2n67 CNV gain 20364138
esv1004967 CNV gain 20482838
esv1027332 CNV deletion 17803354
esv1323061 CNV insertion 17803354
esv1653789 CNV deletion 17803354
esv2106414 CNV deletion 18987734
esv25372 CNV gain+loss 19812545
esv2758912 CNV loss 17122850
esv3408806 CNV duplication 20981092
esv3545232 CNV deletion 23714750
nsv1000169 CNV gain 25217958
nsv1003578 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1118090 CNV deletion 24896259
nsv1160772 CNV duplication 26073780
nsv1160788 CNV deletion 26073780
nsv469848 CNV gain 16826518
nsv470680 CNV loss 18288195
nsv482937 CNV loss 15286789
nsv499366 CNV gain 21111241
nsv511671 CNV loss 21212237
nsv544947 CNV loss 21841781
nsv544965 CNV loss 21841781
nsv544966 CNV gain 21841781
nsv544969 CNV loss 21841781
nsv817616 CNV loss 17921354
nsv950452 CNV deletion 24416366

Variation tolerance for SCNN1D Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.78; 73.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCNN1D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCNN1D
Leiden Open Variation Database (LOVD)
SCNN1D

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCNN1D Gene

Disorders for SCNN1D Gene

MalaCards: The human disease database

(2) MalaCards diseases for SCNN1D Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SCNN1D

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SCNN1D: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SCNN1D Gene

Publications for SCNN1D Gene

  1. Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. (PMID: 26772908) Hanukoglu I … Hanukoglu A (Gene 2016) 2 3 4
  2. Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction. (PMID: 16423824) Ji HL … Benos DJ (The Journal of biological chemistry 2006) 3 4 25
  3. Protons activate the delta-subunit of the epithelial Na+ channel in humans. (PMID: 14726523) Yamamura H … Shimada S (The Journal of biological chemistry 2004) 3 22 25
  4. Characterization of a novel splice variant of δ ENaC subunit in human lungs. (PMID: 22505667) Zhao RZ … Ji HL (American journal of physiology. Lung cellular and molecular physiology 2012) 3 4
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40

Products for SCNN1D Gene

Sources for SCNN1D Gene