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Aliases for SCNN1A Gene

Aliases for SCNN1A Gene

  • Sodium Channel Epithelial 1 Alpha Subunit 2 3 5
  • Amiloride-Sensitive Sodium Channel Subunit Alpha 2 3 4
  • Sodium Channel, Non Voltage Gated 1 Alpha Subunit 2 3
  • Nonvoltage-Gated Sodium Channel 1 Subunit Alpha 3 4
  • Sodium Channel, Non-Voltage-Gated 1 Alpha 2 3
  • Sodium Channel, Nonvoltage-Gated 1 Alpha 2 3
  • Epithelial Na(+) Channel Subunit Alpha 3 4
  • Alpha-ENaC 3 4
  • Alpha-NaCH 3 4
  • SCNN1 3 4
  • SCNEA 3 4
  • Amiloride-Sensitive Epithelial Sodium Channel Alpha Subunit 3
  • Amiloride-Sensitive Sodium Channel Subunit Alpha 2 3
  • Sodium Channel, Non-Voltage-Gated 1 Alpha Subunit 2
  • Nasal Epithelial Sodium Channel Alpha Subunit 3
  • Alpha ENaC-2 3
  • ENaCalpha 3
  • LIDLS3 3
  • BESC2 3
  • ENaCa 3
  • ENaCA 4

External Ids for SCNN1A Gene

Previous HGNC Symbols for SCNN1A Gene

  • SCNN1

Previous GeneCards Identifiers for SCNN1A Gene

  • GC12M006310
  • GC12M006430
  • GC12M006456

Summaries for SCNN1A Gene

Entrez Gene Summary for SCNN1A Gene

  • Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

GeneCards Summary for SCNN1A Gene

SCNN1A (Sodium Channel Epithelial 1 Alpha Subunit) is a Protein Coding gene. Diseases associated with SCNN1A include Liddle Syndrome 3 and Bronchiectasis With Or Without Elevated Sweat Chloride 2. Among its related pathways are NO-dependent CFTR activation (normal and CF) and Diuretics Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include actin binding and sodium channel activity. An important paralog of this gene is SCNN1D.

UniProtKB/Swiss-Prot for SCNN1A 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. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception.

Gene Wiki entry for SCNN1A Gene

Additional gene information for SCNN1A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCNN1A Gene

Genomics for SCNN1A Gene

GeneHancer (GH) Regulatory Elements for SCNN1A Gene

Promoters and enhancers for SCNN1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J006369 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 616.9 +3.6 3613 8.7 SP1 ELF3 ZNF148 RERE ZSCAN21 ELF1 SP7 HNF1A PPARG SP5 SCNN1A LTBR ENSG00000256433 LOC105369626
GH12J006359 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.4 +15.8 15841 5.4 ZNF652 ELF3 POLR2A MLLT1 AHR NCOA3 MAFK TFE3 ELF1 SP1 SCNN1A PLEKHG6 TAPBPL CD27-AS1 VAMP1 VWF LOC105369626 GC12P006346
GH12J006331 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 +39.6 39592 12.7 CC2D1A ZNF652 ZFX SP1 ELF3 MNT CBFA2T2 ZNF148 NKRF POLR2A TNFRSF1A NCAPD2 ENSG00000219410 NOP2 ZNF384 ENSG00000247853 CHD4 ING4 SPSB2 VAMP1
GH12J006940 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 -575.9 -575928 25.9 MTA3 ZNF652 SP1 ZFX CC2D1A ELF3 CTCF ZKSCAN8 MNT CBFA2T2 EMG1 PTPN6 C12orf57 ZNF384 ENSG00000219410 ENSG00000247853 SPSB2 SCARNA12 NCAPD2 NOP2
GH12J006344 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +31.1 31074 3.5 CC2D1A CBFA2T2 GTF2F1 ZSCAN21 BACH1 MAFK TRIM24 SP7 EGR1 ZNF639 GC12P006346 CHD4 ENSG00000219410 ZNF384 ENSG00000247853 PHB2 LTBR SCNN1A VAMP1 C1RL-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCNN1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCNN1A gene promoter:
  • AhR
  • AP-1
  • ATF-2
  • c-Jun
  • Chx10
  • GR
  • GR-alpha
  • GR-beta
  • NF-kappaB1
  • POU3F2

Genomic Locations for SCNN1A Gene

Genomic Locations for SCNN1A Gene
chr12:6,346,843-6,377,730
(GRCh38/hg38)
Size:
30,888 bases
Orientation:
Minus strand
chr12:6,456,009-6,486,896
(GRCh37/hg19)
Size:
30,888 bases
Orientation:
Minus strand

Genomic View for SCNN1A Gene

Genes around SCNN1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCNN1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCNN1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCNN1A Gene

Proteins for SCNN1A Gene

  • Protein details for SCNN1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37088-SCNNA_HUMAN
    Recommended name:
    Amiloride-sensitive sodium channel subunit alpha
    Protein Accession:
    P37088
    Secondary Accessions:
    • A5X2U9
    • B4E2Q5
    • C5HTZ0
    • O43271
    • Q6GSQ6
    • Q9UM64

    Protein attributes for SCNN1A Gene

    Size:
    669 amino acids
    Molecular mass:
    75704 Da
    Quaternary structure:
    • Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties (By similarity). Interacts with NEDD4 (via WW domains) (PubMed:11244092, PubMed:11696533, PubMed:12167593, PubMed:23665454). Interacts with NEDD4L (via WW domains) (PubMed:11244092, PubMed:11696533). Interacts with WWP1 (via WW domains) (PubMed:9169421). Interacts with WWP2 (via WW domains) (PubMed:12167593, PubMed:9169421). Interacts with the full-length immature form of PCSK9 (pro-PCSK9) (PubMed:22493497).
    SequenceCaution:
    • Sequence=AAH06526.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SCNN1A Gene

    Alternative splice isoforms for SCNN1A Gene

neXtProt entry for SCNN1A Gene

Post-translational modifications for SCNN1A Gene

  • Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation.
  • ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation.
  • N-glycosylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SCNN1A Gene

Domains & Families for SCNN1A Gene

Gene Families for SCNN1A Gene

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

Protein Domains for SCNN1A Gene

Suggested Antigen Peptide Sequences for SCNN1A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56208, highly similar to Amiloride-sensitive sodium channel subunit alpha (B4E2Q5_HUMAN)
  • Amiloride-sensitive sodium channel subunit alpha 1 (C5HTY8_HUMAN)
  • Amiloride-sensitive sodium channel subunit alpha (C5HTY9_HUMAN)
  • Amiloride-sensitive epithelial sodium channel alpha subunit (Q6UP09_HUMAN)
  • SCNEA (SCNNA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P37088

UniProtKB/Swiss-Prot:

SCNNA_HUMAN :
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1A subfamily.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1A subfamily.
genes like me logo Genes that share domains with SCNN1A: view

Function for SCNN1A Gene

Molecular function for SCNN1A 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. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by WNK1, WNK2, WNK3 and WNK4.
UniProtKB/Swiss-Prot Induction:
By aldosterone.
GENATLAS Biochemistry:
epithelial amiloride-sensitive sodium channel,non-voltage gated in the luminal membrane of the collecting tubule of kidney,(NHE4-PEN),subunit alpha

Phenotypes From GWAS Catalog for SCNN1A Gene

Gene Ontology (GO) - Molecular Function for SCNN1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005272 sodium channel activity IEA --
GO:0005515 protein binding IPI 11244092
GO:0015280 contributes_to ligand-gated sodium channel activity IDA 24124190
GO:0050699 WW domain binding IPI 10642508
genes like me logo Genes that share ontologies with SCNN1A: view
genes like me logo Genes that share phenotypes with SCNN1A: view

Human Phenotype Ontology for SCNN1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCNN1A Gene

MGI Knock Outs for SCNN1A:

Animal Model Products

CRISPR Products

miRNA for SCNN1A Gene

miRTarBase miRNAs that target SCNN1A

Clone Products

  • Applied Biological Materials (abm): Clones for SCNN1A - Now 50% OFF >
  • * SCNN1A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SCNN1A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCNN1A Gene

Localization for SCNN1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCNN1A Gene

Apical cell membrane; Multi-pass membrane protein. Cell projection, cilium. Cytoplasmic granule. Cytoplasm. Cytoplasmic vesicle, secretory vesicle, acrosome. Cell projection, cilium, flagellum. Note=In the oviduct and bronchus, located on cilia in multi-ciliated cells. In endometrial non-ciliated epithelial cells, restricted to apical surfaces. In epidermis, located nearly uniformly in the cytoplasm in a granular distribution (PubMed:28130590). In sebaceous glands, observed only in the cytoplasmic space in between the lipid vesicles (PubMed:28130590). In eccrine sweat glands, mainly located at the apical surface of the cells facing the lumen (PubMed:28130590). In skin, in arrector pili muscle cells and in adipocytes, located in the cytoplasm and colocalized with actin fibers (PubMed:28130590). In spermatogonia, spermatocytes and round spermatids, located in the cytoplasm (By similarity). Prior to spermiation, location shifts from the cytoplasm to the spermatid tail (By similarity). In spermatozoa, localizes at the acrosome and the central region of the sperm flagellum (By similarity). {ECO:0000250 UniProtKB:P37089, ECO:0000269 PubMed:22207244, ECO:0000269 PubMed:24124190, ECO:0000269 PubMed:28130590}.

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 SCNN1A gene
Compartment Confidence
plasma membrane 5
extracellular 5
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SCNN1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle ISS --
GO:0005737 cytoplasm IDA,IEA 28130590
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 24124190
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with SCNN1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCNN1A Gene

Pathways & Interactions for SCNN1A Gene

genes like me logo Genes that share pathways with SCNN1A: view

SIGNOR curated interactions for SCNN1A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SCNN1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0035725 sodium ion transmembrane transport IDA,IEA 24124190
GO:0050891 multicellular organismal water homeostasis IDA 24124190
genes like me logo Genes that share ontologies with SCNN1A: view

Drugs & Compounds for SCNN1A Gene

(42) Drugs for SCNN1A Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Triamterene Approved Pharma Target, inhibitor, blocker 5
Amiloride Approved Pharma Channel blocker, Target, inhibitor, blocker 57
Lithium carbonate Approved Pharma Transporter Mood stabilizer; inhibits Na+/K+ ATPase pump activity 284
Carbamazepine Approved, Investigational Pharma Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 103
Ouabain Approved Pharma Na+/K+ ATPase inhibitor 3

(3) Additional Compounds for SCNN1A Gene - From: Novoseek and HMDB

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

(36) ApexBio Compounds for SCNN1A Gene

Compound Action Cas Number
Ambroxol HCl TTX-resistant Na+ currents inhibitor 23828-92-4
Amiloride HCl 2016-88-8
Amiloride HCl dihydrate 17440-83-4
Bupivacaine HCl Anaesthetic drug 18010-40-7
Carbamazepine 298-46-4
Co 102862 181144-66-1
Dibucaine (Cinchocaine) HCl 1961-12-1
GSK1014802(CNV1014802) Novel sodium channel blocker 934240-30-9
Huwentoxin IV 526224-73-7
Ibutilide Fumarate Class III antiarrhythmic agent 122647-32-9
ICA 121431 313254-51-2
Jingzhaotoxin III 925463-91-8
KC 12291 hydrochloride 181936-98-1
Licarbazepine 29331-92-8
Nav1.7 inhibitor 1355631-24-1
Ouabain 630-60-4
PF 04885614
Phenytoin 57-41-0
Phenytoin sodium Sodium channel stabilizer 630-93-3
Phrixotoxin 3 880886-00-0
Procainamide HCl 614-39-1
Procaine HCl 1951-05-8
Propafenone HCl 34183-22-7
Proparacaine HCl 5875-06-9
ProTx II 484598-36-9
QX 222 5369-00-6
QX 314 bromide 24003-58-5
QX 314 chloride 5369-03-9
Ralfinamide mesylate 202825-45-4
Riluzole Sodium channel protein inhibitor 1744-22-5
Rostafuroxin (PST 2238) Selective antagonist of endogenous ouabain, antihypertensive agent 156722-18-8
Sipatrigine 130800-90-7
Sodium Channel inhibitor 1 Voltage-gated sodium channel for pain treatment 1198117-23-5
TC-N 1752 1211866-85-1
Triamterene 396-01-0
Veratridine 71-62-5
genes like me logo Genes that share compounds with SCNN1A: view

Drug Products

Transcripts for SCNN1A Gene

mRNA/cDNA for SCNN1A Gene

Unigene Clusters for SCNN1A Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SCNN1A - Now 50% OFF >
  • * SCNN1A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SCNN1A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for SCNN1A Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^
SP1: - - - - -
SP2: - - -
SP3: - - - -
SP4: - - - -
SP5:
SP6: - - - - - - - - - - -
SP7: - -
SP8: - - - - -
SP9:
SP10: -
SP11:
SP12: - -

ExUns: 18a · 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for SCNN1A Gene

GeneLoc Exon Structure for
SCNN1A
ECgene alternative splicing isoforms for
SCNN1A

Expression for SCNN1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCNN1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCNN1A Gene

This gene is overexpressed in Kidney - Cortex (x6.6), Minor Salivary Gland (x6.4), Esophagus - Mucosa (x5.4), and Colon - Transverse (x4.2).

Protein differential expression in normal tissues from HIPED for SCNN1A Gene

This gene is overexpressed in Vitreous humor (62.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SCNN1A Gene



Protein tissue co-expression partners for SCNN1A Gene

NURSA nuclear receptor signaling pathways regulating expression of SCNN1A Gene:

SCNN1A

SOURCE GeneReport for Unigene cluster for SCNN1A Gene:

Hs.591047

mRNA Expression by UniProt/SwissProt for SCNN1A Gene:

P37088-SCNNA_HUMAN
Tissue specificity: Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level) (PubMed:22207244). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchial epithelium (at protein level). Highly expressed in lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta (PubMed:22207244). in skin, expressed in keratinocytes, melanocytes and Merkel cells of the epidermal sub-layers, stratum basale, stratum spinosum and stratum granulosum (at protein level) (PubMed:28130590). Expressed in the outer root sheath of the hair follicles (at protein level) (PubMed:28130590). Detected in both peripheral and central cells of the sebaceous gland (at protein level) (PubMed:28130590). Expressed by eccrine sweat glands (at protein level) (PubMed:28130590). In skin, also expressed by arrector pili muscle cells and intradermal adipocytes (PubMed:28130590). Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart (PubMed:9575806).

Evidence on tissue expression from TISSUES for SCNN1A Gene

  • Intestine(4.7)
  • Kidney(4.6)
  • Lung(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCNN1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • bronchus
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
General:
  • blood vessel
genes like me logo Genes that share expression patterns with SCNN1A: view

Orthologs for SCNN1A Gene

This gene was present in the common ancestor of animals.

Orthologs for SCNN1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCNN1A 35 34
  • 97.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SCNN1A 35 34
  • 88.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SCNN1A 35 34
  • 87.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Scnn1a 17 35 34
  • 83.28 (n)
rat
(Rattus norvegicus)
Mammalia Scnn1a 34
  • 82.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SCNN1A 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCNN1A 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCNN1A 35 34
  • 66.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCNN1A 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scnn1a 34
  • 63.01 (n)
LOC395013 34
African clawed frog
(Xenopus laevis)
Amphibia alphaxENaC 34
worm
(Caenorhabditis elegans)
Secernentea ZK770.1 36
  • 28 (a)
del-4 35
  • 22 (a)
ManyToMany
asic-2 35
  • 21 (a)
ManyToMany
del-1 35 36
  • 19 (a)
ManyToMany
unc-8 35 36
  • 18 (a)
ManyToMany
mec-10 35
  • 17 (a)
ManyToMany
mec-4 35 36
  • 16 (a)
ManyToMany
deg-1 35
  • 16 (a)
ManyToMany
unc-105 35 36
  • 14 (a)
ManyToMany
asic-1 35
  • 14 (a)
ManyToMany
Species where no ortholog for SCNN1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 SCNN1A Gene

ENSEMBL:
Gene Tree for SCNN1A (if available)
TreeFam:
Gene Tree for SCNN1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SCNN1A: view image

Paralogs for SCNN1A Gene

Paralogs for SCNN1A Gene

(3) SIMAP similar genes for SCNN1A Gene using alignment to 9 proteins:

  • SCNNA_HUMAN
  • C5HTY8_HUMAN
  • C5HTY9_HUMAN
  • C5HTZ1_HUMAN
  • E7EVF3_HUMAN
  • F5GXE6_HUMAN
  • F5H5F8_HUMAN
  • J3KPV6_HUMAN
  • Q6UP09_HUMAN
genes like me logo Genes that share paralogs with SCNN1A: view

Variants for SCNN1A Gene

Sequence variations from dbSNP and Humsavar for SCNN1A Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs10849447 benign, Cystic Fibrosis-Like Syndrome, Pseudohypoaldosteronism type 1 autosomal recessive 6,375,543(-) T/C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs111317117 likely-benign, Pseudohypoaldosteronism type 1 autosomal recessive, Cystic Fibrosis-Like Syndrome 6,363,434(-) G/A/C intron_variant
rs11542844 benign, not specified, Cystic Fibrosis-Like Syndrome, Pseudohypoaldosteronism type 1 autosomal recessive, - 6,355,415(-) C/T coding_sequence_variant, missense_variant
rs13306617 benign, Cystic Fibrosis-Like Syndrome, Pseudohypoaldosteronism type 1 autosomal recessive 6,375,500(-) C/G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs13306619 likely-benign, Pseudohypoaldosteronism type 1 autosomal recessive, Cystic Fibrosis-Like Syndrome 6,374,685(-) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SCNN1A Gene

Variant ID Type Subtype PubMed ID
esv2479244 CNV insertion 19546169
esv2745469 CNV deletion 23290073
esv2759876 CNV gain 17122850
esv3358588 CNV duplication 20981092
esv34325 CNV gain 17911159
nsv952790 CNV deletion 24416366

Variation tolerance for SCNN1A Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.41; 85.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCNN1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCNN1A
Human Gene Mutation Database (HGMD)
SCNN1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCNN1A Gene

Disorders for SCNN1A Gene

MalaCards: The human disease database

(11) MalaCards diseases for SCNN1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SCNNA_HUMAN
  • Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]: A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO:0000269 PubMed:10586178, ECO:0000269 PubMed:15853823, ECO:0000269 PubMed:18634878}. Note=The disease is caused by mutations affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878). {ECO:0000269 PubMed:18634878}.
  • Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021]: A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. {ECO:0000269 PubMed:19462466}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Liddle syndrome 3 (LIDLS3) [MIM:618126]: A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. {ECO:0000269 PubMed:28710092}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SCNN1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SCNN1A: view

No data available for Genatlas for SCNN1A Gene

Publications for SCNN1A 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 58
  2. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. (PMID: 19017867) Mutesa L … Bours V (Chest 2009) 3 23 45 58
  3. The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene. (PMID: 11266509) Mick VE … Thomas CP (Molecular endocrinology (Baltimore, Md.) 2001) 3 4 23 58
  4. Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene. (PMID: 10447117) Chow YH … Hu J (Pediatric research 1999) 3 4 23 58
  5. Cloning and functional studies of splice variants of the alpha-subunit of the amiloride-sensitive Na+ channel. (PMID: 9575806) Tucker JK … Oh Y (The American journal of physiology 1998) 3 4 23 58

Products for SCNN1A Gene