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Aliases for SCNN1D Gene

Aliases for SCNN1D Gene

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

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 Delta Subunit) is a Protein Coding gene. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons. GO annotations related to this gene include sodium channel activity and ligand-gated sodium channel activity. An important paralog of this gene is SCNN1G.

UniProtKB/Swiss-Prot 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 sodium reabsorption in the distal kidney tubule, and transport Na+ across the epithelium. They have similar functions in alveoli and the colon.

Gene Wiki entry for SCNN1D Gene

No data available for Entrez Gene Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCNN1D Gene

Genomics for SCNN1D Gene

Regulatory Elements for SCNN1D Gene

Enhancers for SCNN1D Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SCNN1D on UCSC Golden Path with GeneCards custom track

Promoters for SCNN1D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SCNN1D on UCSC Golden Path with GeneCards custom track

Genomic Location for SCNN1D Gene

Chromosome:
1
Start:
1,280,415 bp from pter
End:
1,292,029 bp from pter
Size:
11,615 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:
    • A9Z1X6
    • B1PS44
    • Q08AQ3
    • Q09HT0
    • Q5T7L3
    • Q8NA24

    Protein attributes for SCNN1D Gene

    Size:
    638 amino acids
    Molecular mass:
    70215 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.

    Alternative splice isoforms for SCNN1D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCNN1D Gene

Proteomics data for SCNN1D Gene at MOPED

Post-translational modifications for SCNN1D Gene

  • Glycosylation at Asn 166 and Asn 384
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SCNN1D Gene

Domains & Families for SCNN1D Gene

Gene Families for SCNN1D Gene

Protein Domains for SCNN1D Gene

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

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
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.
genes like me logo Genes that share phenotypes with SCNN1D: view

Animal Model Products

CRISPR Products

miRNA for SCNN1D Gene

miRTarBase miRNAs that target SCNN1D

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SCNN1D Gene COMPARTMENTS Subcellular localization image for SCNN1D gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5

No data available for Gene Ontology (GO) - Cellular Components for SCNN1D Gene

Pathways & Interactions for SCNN1D Gene

genes like me logo Genes that share pathways with SCNN1D: view

Gene Ontology (GO) - Biological Process for SCNN1D Gene

GO ID Qualified GO term Evidence PubMed IDs
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, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, blocker, Target, inhibitor 47
Triamterene Approved Pharma blocker, Target, inhibitor 5
GS-9411 Pharma 0
P-552 Pharma 0
Benzamil Pharma Channel blocker NCX inhibitor, Deg/ENaC channel blocker; amiloride (Cat. No. 0890) derivative 0

(1) Additional Compounds for SCNN1D Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(3) 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
Phenamil Inhibits TRPP3-mediated currents; also inhibits epithelial Na+ channels 1161-94-0
genes like me logo Genes that share compounds with SCNN1D: view

Transcripts for SCNN1D Gene

Unigene Clusters for SCNN1D Gene

Sodium channel, non-voltage-gated 1, delta subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
SCNN1D

Expression for SCNN1D Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for SCNN1D Gene



SOURCE GeneReport for Unigene cluster for SCNN1D Gene Hs.512681

genes like me logo Genes that share expression patterns with SCNN1D: view

Protein tissue co-expression partners for SCNN1D Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia SCNN1D 35
  • 76.2 (n)
  • 67.37 (a)
SCNN1D 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCNN1D 35
  • 76.27 (n)
  • 67 (a)
SCNN1D 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCNN1D 35
  • 99.03 (n)
  • 99.03 (a)
SCNN1D 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCNN1D 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCNN1D 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCNN1D 35
  • 57.01 (n)
  • 47.47 (a)
SCNN1D 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496702 35
  • 51.53 (n)
  • 43.76 (a)
worm
(Caenorhabditis elegans)
Secernentea mec-4 37
  • 27 (a)
unc-8 37
  • 28 (a)
asic-1 36
  • 14 (a)
ManyToMany
asic-2 36
  • 18 (a)
ManyToMany
deg-1 36
  • 14 (a)
ManyToMany
del-1 36
  • 15 (a)
ManyToMany
del-4 36
  • 18 (a)
ManyToMany
mec-10 36
  • 13 (a)
ManyToMany
mec-4 36
  • 14 (a)
ManyToMany
unc-105 36
  • 14 (a)
ManyToMany
unc-8 36
  • 15 (a)
ManyToMany
Species with no ortholog for SCNN1D:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SCNN1D Gene

Paralogs for SCNN1D Gene

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

genes like me logo Genes that share paralogs with SCNN1D: view

Variants for SCNN1D Gene

Sequence variations from dbSNP and Humsavar for SCNN1D Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs11260579 - 1,286,887(+) CCCCC(A/C/G/T)CCACG nc-transcript-variant, reference, missense
rs2228579 - 1,288,005(+) AGGTG(C/G)AGCTG nc-transcript-variant, reference, missense
rs13306651 - 1,290,683(+) CTTCC(A/G)CCAAG nc-transcript-variant, reference, missense
rs1053844 - 1,291,288(+) CCTCT(A/G)CAGCC nc-transcript-variant, reference, missense
rs6690013 - 1,291,377(+) TAGGC(A/G)GCCGC nc-transcript-variant, downstream-variant-500B, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv10161 CNV Gain+Loss 18304495
dgv2n67 CNV Gain 20364138
dgv10n71 CNV Loss 21882294
dgv12n71 CNV Loss 21882294
nsv470680 CNV Loss 18288195
dgv17n71 CNV Loss 21882294
dgv19n71 CNV Loss 21882294
dgv20n71 CNV Loss 21882294
nsv870527 CNV Gain 21882294
nsv469848 CNV Gain 16826518
nsv482937 CNV Loss 15286789
dgv22n71 CNV Loss 21882294
nsv871329 CNV Gain 21882294
dgv25n71 CNV Loss 21882294
nsv871327 CNV Loss 21882294
nsv870639 CNV Loss 21882294
nsv871666 CNV Gain+Loss 21882294
nsv817616 CNV Loss 17921354
dgv28n71 CNV Gain 21882294
dgv8e1 CNV Complex 17122850
dgv29n71 CNV Loss 21882294
nsv870963 CNV Loss 21882294
dgv30n71 CNV Gain 21882294
dgv31n71 CNV Gain 21882294
dgv32n71 CNV Gain+Loss 21882294
dgv33n71 CNV Loss 21882294
dgv34n71 CNV Loss 21882294
dgv35n71 CNV Loss 21882294
esv25372 CNV Gain+Loss 19812545
esv2106414 CNV Deletion 18987734
nsv499366 CNV Gain 21111241
dgv1e199 CNV Deletion 23128226
esv1004967 CNV Gain 20482838
esv2745918 CNV Deletion 23290073
nsv511671 CNV Loss 21212237
esv1653789 CNV Deletion 17803354
esv1027332 CNV Deletion 17803354
esv2746030 CNV Deletion 23290073
esv1323061 CNV Insertion 17803354

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)

Relevant External Links for SCNN1D Gene

HapMap Linkage Disequilibrium report
SCNN1D

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

Disorders for SCNN1D Gene

Relevant External Links for SCNN1D

Genetic Association Database (GAD)
SCNN1D
Human Genome Epidemiology (HuGE) Navigator
SCNN1D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCNN1D

No disorders were found for SCNN1D Gene.

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

Publications for SCNN1D Gene

  1. Protons activate the delta-subunit of the epithelial Na+ channel in humans. (PMID: 14726523) Yamamura H. … Shimada S. (J. Biol. Chem. 2004) 3 23 25 26
  2. Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. (PMID: 26772908) Hanukoglu I. … Hanukoglu A. (Gene 2016) 2 3 67
  3. Delta-subunit confers novel biophysical features to alpha beta gamma- human epithelial sodium channel (ENaC) via a physical interaction. (PMID: 16423824) Ji H.L. … Benos D.J. (J. Biol. Chem. 2006) 3 25 26
  4. Evans blue is a specific antagonist of the human epithelial Na+ channel delta-subunit. (PMID: 16107516) Yamamura H. … Shimada S. (J. Pharmacol. Exp. Ther. 2005) 23 25 26
  5. Blockade of epithelial sodium channels improves sperm motility in asthenospermia patients. (PMID: 18298571) Kong X.B. … Xiong C.L. (Int. J. Androl. 2009) 3 23

Products for SCNN1D Gene

Sources for SCNN1D Gene

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