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Aliases for SCNN1A Gene

Aliases for SCNN1A Gene

  • Sodium Channel Epithelial 1 Alpha Subunit 2 3 5
  • 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
  • ENaCa 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
  • Amiloride-Sensitive Sodium Channel Subunit Alpha 3
  • Nasal Epithelial Sodium Channel Alpha Subunit 3
  • Alpha ENaC-2 3
  • ENaCalpha 3
  • BESC2 3

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 Pseudohypoaldosteronism, Type I and Bronchiectasis With Or Without Elevated Sweat Chloride 2. Among its related pathways are G-Beta Gamma Signaling and Ion channel transport. 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 sweat glands. Also plays a role in taste perception.

Gene Wiki entry for SCNN1A Gene

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

Genomics for SCNN1A Gene

Regulatory Elements for SCNN1A Gene

Enhancers for SCNN1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F006369 1.1 FANTOM5 ENCODE 17 +3.6 3614 8.7 PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS ZNF263 SP3 SP5 SCNN1A LTBR LOC105369628 LOC105369626
GH12F006331 1.2 FANTOM5 ENCODE 12.6 +39.6 39592 12.7 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ENSG00000219410 ENSG00000247853 NCAPD2 SPSB2 VAMP1 TAPBPL SCNN1A LTBR CD27-AS1 PLEKHG6
GH12F006351 1 Ensembl 12.4 +25.0 25030 2.6 HDGF PKNOX1 BMI1 ZIC2 ZBTB40 POLR2A EED ZNF143 ZNF207 ETV6 LTBR SCNN1A VAMP1 ENSG00000247853 SCARNA11 CHD4 TAPBPL CD27-AS1 IFFO1 NOP2
GH12F006344 1.3 FANTOM5 ENCODE 12.4 +31.1 31075 3.5 PKNOX1 ATF1 ARNT SIN3A BRCA1 GATA2 FOS DEK JUNB NCOA1 CHD4 LTBR SCNN1A VAMP1 ENSG00000247853 SCARNA11 ACRBP IFFO1 NOP2 ENSG00000219410
GH12F006409 0.2 Ensembl 12.4 -32.2 -32171 0.2 LTBR SCNN1A TNFRSF1A VAMP1 CD27-AS1 TAPBPL NCAPD2 ENSG00000255966 GAPDH SCARNA10
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SCNN1A on UCSC Golden Path with GeneCards custom track

Genomic Location for SCNN1A Gene

Chromosome:
12
Start:
6,346,843 bp from pter
End:
6,377,730 bp from pter
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

  • 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.
  • Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation.
  • 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

Protein Domains for SCNN1A Gene

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

GENATLAS Biochemistry:
epithelial amiloride-sensitive sodium channel,non-voltage gated in the luminal membrane of the collecting tubule of kidney,(NHE4-PEN),subunit alpha
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by WNK1, WNK2, WNK3 and WNK4.
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 sweat glands. Also plays a role in taste perception.
UniProtKB/Swiss-Prot Induction:
By aldosterone.

Gene Ontology (GO) - Molecular Function for SCNN1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11244092
GO:0015280 contributes_to ligand-gated sodium channel activity IEA,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

miRNA for SCNN1A Gene

miRTarBase miRNAs that target SCNN1A

Flow Cytometry Products

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. Note=In the oviduct and bronchus, located on cilia in multi-ciliated cells. In endometrial non-ciliated epithelial cells, restricted to apical surfaces. {ECO:0000269 PubMed:22207244, ECO:0000269 PubMed:24124190}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCNN1A Gene COMPARTMENTS Subcellular localization image for SCNN1A gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
cytoskeleton 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SCNN1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 24124190
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SCNN1A: view

Pathways & Interactions for SCNN1A Gene

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

Gene Ontology (GO) - Biological Process for SCNN1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0035725 sodium ion transmembrane transport IEA,IDA 24124190
genes like me logo Genes that share ontologies with SCNN1A: view

No data available for SIGNOR curated interactions for SCNN1A Gene

Drugs & Compounds for SCNN1A Gene

(41) 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 blocker, Target, inhibitor 5
Amiloride Approved Pharma Channel blocker, blocker, Target, inhibitor 51
Carbamazepine Approved, Investigational Pharma 131
Ouabain Approved Pharma 0
Phenytoin Approved, Vet_approved Pharma Pore Blocker 76

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • 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

Transcripts for SCNN1A Gene

Unigene Clusters for SCNN1A Gene

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

Flow Cytometry Products

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 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, PaxDb, 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). 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. 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.
genes like me logo Genes that share expression patterns with SCNN1A: view

Primer Products

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 34 35
  • 97.92 (n)
dog
(Canis familiaris)
Mammalia SCNN1A 34 35
  • 88.11 (n)
cow
(Bos Taurus)
Mammalia SCNN1A 34 35
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Scnn1a 34 16 35
  • 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 34 35
  • 66.28 (n)
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 unc-105 36 35
  • 30 (a)
del-1 36 35
  • 29 (a)
unc-8 36 35
  • 29 (a)
mec-4 36 35
  • 28 (a)
ZK770.1 36
  • 28 (a)
del-4 35
  • 22 (a)
ManyToMany
asic-2 35
  • 21 (a)
ManyToMany
mec-10 35
  • 17 (a)
ManyToMany
deg-1 35
  • 16 (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)

Paralogs for SCNN1A Gene

Paralogs for SCNN1A Gene

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

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 Sequence Context AA Info Type
rs137852635 Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350], Pathogenic 6,348,198(-) CTCCT(C/T)GGTGT nc-transcript-variant, reference, missense
rs61758859 Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021] 6,374,601(-) GAGTT(A/C)TTCTG downstream-variant-500B, upstream-variant-2KB, reference, missense
rs61759861 Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021], Pathogenic 6,374,444(-) ACCCC(A/G)TCAGC downstream-variant-500B, upstream-variant-2KB, reference, missense
VAR_026518 Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]
rs137852634 Pathogenic 6,348,981(-) TATCG(C/G/T)GACAG intron-variant, reference, missense, stop-gained

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)

Relevant External Links for SCNN1A Gene

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

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

Disorders for SCNN1A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pseudohypoaldosteronism, type i
  • pseudohypoaldosteronism, type i, autosomal recessive
bronchiectasis with or without elevated sweat chloride 2
  • cystic fibrosis-like syndrome
idiopathic bronchiectasis
pseudohypoaldosteronism
liddle syndrome
  • liddle's syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SCNNA_HUMAN
  • 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.
  • 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}.

Relevant External Links for SCNN1A

Genetic Association Database (GAD)
SCNN1A
Human Genome Epidemiology (HuGE) Navigator
SCNN1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCNN1A
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 64
  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 22 46 64
  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 V.E. … Thomas C.P. (Mol. Endocrinol. 2001) 3 4 22 64
  4. Hormonal regulation and genomic organization of the human amiloride- sensitive epithelial sodium channel alpha subunit gene. (PMID: 10447117) Chow Y.H. … Hu J. (Pediatr. Res. 1999) 3 4 22 64
  5. Cloning and functional studies of splice variants of the alpha- subunit of the amiloride-sensitive Na+ channel. (PMID: 9575806) Tucker J.K. … Oh Y. (Am. J. Physiol. 1998) 3 4 22 64

Products for SCNN1A Gene

Sources for SCNN1A Gene

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