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Aliases for SCNN1B Gene

Aliases for SCNN1B Gene

  • Sodium Channel Epithelial 1 Beta Subunit 2 3 5
  • Sodium Channel, Non-Voltage-Gated 1, Beta Subunit 2 3
  • Nonvoltage-Gated Sodium Channel 1 Subunit Beta 3 4
  • Sodium Channel, Nonvoltage-Gated 1, Beta 2 3
  • Epithelial Na(+) Channel Subunit Beta 3 4
  • Beta-ENaC 3 4
  • Beta-NaCH 3 4
  • ENaCb 3 4
  • SCNEB 3 4
  • Amiloride-Sensitive Sodium Channel Subunit Beta 1 3
  • Sodium Channel, Non Voltage Gated 1 Beta Subunit 2
  • Amiloride-Sensitive Sodium Channel Subunit Beta 3
  • Nasal Epithelial Sodium Channel Beta Subunit 3
  • Sodium Channel, Non-Voltage-Gated 1, Beta 2
  • Epithelial Sodium Channel Beta-2 Subunit 3
  • Epithelial Sodium Channel Beta-3 Subunit 3
  • Liddle Syndrome 2
  • ENaCbeta 3
  • BESC1 3

External Ids for SCNN1B Gene

Previous GeneCards Identifiers for SCNN1B Gene

  • GC16P022722
  • GC16P023401
  • GC16P023241
  • GC16P023280
  • GC16P023221
  • GC16P021402

Summaries for SCNN1B Gene

Entrez Gene Summary for SCNN1B 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 beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

GeneCards Summary for SCNN1B Gene

SCNN1B (Sodium Channel Epithelial 1 Beta Subunit) is a Protein Coding gene. Diseases associated with SCNN1B include Pseudohypoaldosteronism, Type I and Liddle Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Diuretics Pathway, Pharmacodynamics. GO annotations related to this gene include WW domain binding and ligand-gated sodium channel activity. An important paralog of this gene is SCNN1G.

UniProtKB/Swiss-Prot for SCNN1B 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 SCNN1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCNN1B Gene

Genomics for SCNN1B Gene

Regulatory Elements for SCNN1B Gene

Enhancers for SCNN1B 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
GH16G022296 1.2 ENCODE 23.4 -980.4 -980449 3.2 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC C16orf52 SMG1P1 ENSG00000260635 SCNN1B SMG1P4 RRN3P1 NPIPB5 ENSG00000260306 MFSD13B CDR2
GH16G023452 1.4 FANTOM5 ENCODE 14.8 +174.7 174694 1.7 HDGF CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 KLF13 ENSG00000261723 PALB2 SCNN1B ENSG00000260751 DCTN5 NPIPB5 UBFD1 COG7 ENSG00000260136
GH16G023335 1.1 ENCODE dbSUPER 11.8 +58.0 58039 0.8 HDGF PKNOX1 TBL1XR1 BMI1 NFXL1 ZBTB40 EGR1 ZNF143 ZNF207 RELB SCNN1B GC16M023275 RN7SKP23
GH16G023330 0.7 dbSUPER 17.2 +53.2 53244 1.8 CTCF KLF1 TAL1 HLF CEBPB CEBPG FOSL1 ARID1B JUND ZNF366 SCNN1B GC16M023275 RN7SKP23
GH16G023339 0.8 dbSUPER 11.5 +63.5 63465 3.5 USF1 KLF1 CBX3 ZFP64 CEBPG ZKSCAN1 ZNF366 NR2F6 ZNF584 L3MBTL2 SCNN1B GC16M023275 RN7SKP23
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SCNN1B on UCSC Golden Path with GeneCards custom track

Genomic Location for SCNN1B Gene

Chromosome:
16
Start:
23,278,231 bp from pter
End:
23,381,299 bp from pter
Size:
103,069 bases
Orientation:
Plus strand

Genomic View for SCNN1B Gene

Genes around SCNN1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCNN1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCNN1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCNN1B Gene

Proteins for SCNN1B Gene

  • Protein details for SCNN1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51168-SCNNB_HUMAN
    Recommended name:
    Amiloride-sensitive sodium channel subunit beta
    Protein Accession:
    P51168
    Secondary Accessions:
    • C5HTZ2
    • O60891
    • Q96KG2
    • Q9UJ32
    • Q9UMU5

    Protein attributes for SCNN1B Gene

    Size:
    640 amino acids
    Molecular mass:
    72659 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 (PubMed:7499195, PubMed:16423824). Interacts with NEDD4 (via WW domains) (PubMed:11244092, PubMed:12167593). Interacts with NEDD4L (via WW domains) (PubMed:11244092). Interacts with WWP1 (via WW domains) (PubMed:9169421). Interacts with WWP2 (via WW domains) (PubMed:9169421, PubMed:12167593). Interacts with the full length immature form of PCSK9 (pro-PCSK9) (PubMed:22493497). Interacts (N-glycosylated) with BPIFA1; the interaction is direct and inhibits the proteolytic processing of SCNN1A and SCNN1G and the activation of ENaC (PubMed:24124190, PubMed:24043776).

    Alternative splice isoforms for SCNN1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCNN1B Gene

Post-translational modifications for SCNN1B Gene

  • N-glycosylated. N-glycosylation is required for interaction with BPIFA1.
  • Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SCNN1B Gene

Domains & Families for SCNN1B Gene

Gene Families for SCNN1B Gene

Protein Domains for SCNN1B Gene

Graphical View of Domain Structure for InterPro Entry

P51168

UniProtKB/Swiss-Prot:

SCNNB_HUMAN :
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily.
genes like me logo Genes that share domains with SCNN1B: view

Function for SCNN1B Gene

Molecular function for SCNN1B Gene

GENATLAS Biochemistry:
epithelial amiloride-sensitive sodium channel,non-voltage gated in the luminal membrane of the collecting tubule of kidney,subunit beta,regulating blood volume and pressure
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.

Gene Ontology (GO) - Molecular Function for SCNN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11244092
GO:0015280 contributes_to ligand-gated sodium channel activity IDA,IEA 24124190
GO:0050699 WW domain binding IPI 10642508
genes like me logo Genes that share ontologies with SCNN1B: view
genes like me logo Genes that share phenotypes with SCNN1B: view

Human Phenotype Ontology for SCNN1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCNN1B Gene

MGI Knock Outs for SCNN1B:

Animal Model Products

  • Taconic Biosciences Mouse Models for SCNN1B

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SCNN1B Gene

Localization for SCNN1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCNN1B Gene

Apical cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane. Note=Apical membrane of epithelial cells. {ECO:0000305 PubMed:7490094}.

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 SCNN1B gene
Compartment Confidence
plasma membrane 5
extracellular 5

Gene Ontology (GO) - Cellular Components for SCNN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 24124190
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SCNN1B: view

Pathways & Interactions for SCNN1B Gene

genes like me logo Genes that share pathways with SCNN1B: view

Gene Ontology (GO) - Biological Process for SCNN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport TAS,IEA 8521520
GO:0007588 excretion TAS 9118951
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with SCNN1B: view

No data available for SIGNOR curated interactions for SCNN1B Gene

Drugs & Compounds for SCNN1B Gene

(41) Drugs for SCNN1B Gene - From: DrugBank, PharmGKB, 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 53
Glyburide Approved Pharma Channel blocker Kir6 (KATP) channel blocker 114
Carbamazepine Approved, Investigational Pharma 132
Ouabain Approved Pharma 0

(1) Additional Compounds for SCNN1B 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 SCNN1B 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 SCNN1B: view

Drug Products

Transcripts for SCNN1B Gene

Unigene Clusters for SCNN1B Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCNN1B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: -
SP6:
SP7:

Relevant External Links for SCNN1B Gene

GeneLoc Exon Structure for
SCNN1B
ECgene alternative splicing isoforms for
SCNN1B

Expression for SCNN1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCNN1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCNN1B Gene

This gene is overexpressed in Colon - Transverse (x11.8), Esophagus - Mucosa (x7.7), and Vagina (x4.2).

Protein differential expression in normal tissues from HIPED for SCNN1B Gene

This gene is overexpressed in Testis (58.1) and Tlymphocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCNN1B Gene



Protein tissue co-expression partners for SCNN1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCNN1B Gene:

SCNN1B

SOURCE GeneReport for Unigene cluster for SCNN1B Gene:

Hs.414614

mRNA Expression by UniProt/SwissProt for SCNN1B Gene:

P51168-SCNNB_HUMAN
Tissue specificity: Detected in placenta, lung and kidney (PubMed:7762608). Expressed in kidney (at protein level) (PubMed:22207244).

Evidence on tissue expression from TISSUES for SCNN1B Gene

  • Kidney(4.5)
  • Lung(4.5)
  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCNN1B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • bronchus
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • rectum
  • ureter
  • urinary bladder
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SCNN1B: view

Primer Products

Orthologs for SCNN1B Gene

This gene was present in the common ancestor of animals.

Orthologs for SCNN1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCNN1B 34 35
  • 95.4 (n)
dog
(Canis familiaris)
Mammalia SCNN1B 34 35
  • 88.54 (n)
cow
(Bos Taurus)
Mammalia SCNN1B 34 35
  • 86.82 (n)
mouse
(Mus musculus)
Mammalia Scnn1b 34 16 35
  • 84.06 (n)
rat
(Rattus norvegicus)
Mammalia Scnn1b 34
  • 83.75 (n)
oppossum
(Monodelphis domestica)
Mammalia SCNN1B 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCNN1B 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCNN1B 34 35
  • 70.95 (n)
lizard
(Anolis carolinensis)
Reptilia SCNN1B 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scnn1b 34
  • 66.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia scnn1b-A-prov 34
worm
(Caenorhabditis elegans)
Secernentea unc-105 36 35
  • 29 (a)
unc-8 36 35
  • 29 (a)
ZK770.1 36
  • 29 (a)
del-1 36 35
  • 26 (a)
mec-10 36 35
  • 26 (a)
mec-4 36 35
  • 26 (a)
deg-1 36 35
  • 25 (a)
del-4 35
  • 22 (a)
ManyToMany
asic-2 35
  • 18 (a)
ManyToMany
asic-1 35
  • 14 (a)
ManyToMany
Species where no ortholog for SCNN1B 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 SCNN1B Gene

ENSEMBL:
Gene Tree for SCNN1B (if available)
TreeFam:
Gene Tree for SCNN1B (if available)

Paralogs for SCNN1B Gene

Paralogs for SCNN1B Gene

(3) SIMAP similar genes for SCNN1B Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SCNN1B: view

Variants for SCNN1B Gene

Sequence variations from dbSNP and Humsavar for SCNN1B Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs137852705 Liddle syndrome (LIDLS) [MIM:177200] 23,380,731(+) GCCCC(C/G/T)CAACT reference, missense
rs137852706 Pathogenic, Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350] 23,348,708(+) CCCAC(A/G)GCCCC reference, missense
rs137852707 Pathogenic, Liddle syndrome (LIDLS) [MIM:177200] 23,380,736(+) CCAAC(C/T)ATGAC reference, missense
rs137852708 Pathogenic, Liddle syndrome (LIDLS) [MIM:177200] 23,380,727(+) CCCCG(C/T)CCCCC reference, missense
rs137852709 Pathogenic, Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400] 23,367,879(+) CTACC(C/T)TCACT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SCNN1B Gene

Variant ID Type Subtype PubMed ID
dgv2826n100 CNV gain 25217958
esv2600690 CNV deletion 19546169
esv2714087 CNV deletion 23290073
esv2714088 CNV deletion 23290073
esv2714089 CNV deletion 23290073
esv3431196 CNV duplication 20981092
nsv1111128 CNV tandem duplication 24896259
nsv1117159 CNV tandem duplication 24896259
nsv1127476 CNV deletion 24896259
nsv1129576 CNV tandem duplication 24896259
nsv1141283 CNV duplication 24896259

Variation tolerance for SCNN1B Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCNN1B Gene

Human Gene Mutation Database (HGMD)
SCNN1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCNN1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCNN1B Gene

Disorders for SCNN1B Gene

MalaCards: The human disease database

(12) MalaCards diseases for SCNN1B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudohypoaldosteronism, type i
  • pseudohypoaldosteronism, type i, autosomal recessive
liddle syndrome
  • liddle's syndrome
bronchiectasis with or without elevated sweat chloride 1
  • bronchiectasis with or without elevated sweat chloride 1, modifier of
idiopathic bronchiectasis
liddle syndrome, scnn1b-related
  • liddle syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SCNNB_HUMAN
  • Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]: 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:16207733, ECO:0000269 PubMed:18507830, ECO:0000269 PubMed:19017867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Liddle syndrome (LIDLS) [MIM:177200]: An autosomal dominant disorder characterized by hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. {ECO:0000269 PubMed:15483078, ECO:0000269 PubMed:7550319, ECO:0000269 PubMed:8524790, ECO:0000269 PubMed:8601645, ECO:0000269 PubMed:9626162, ECO:0000269 PubMed:9794716}. 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:8589714}. 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 SCNN1B

Genetic Association Database (GAD)
SCNN1B
Human Genome Epidemiology (HuGE) Navigator
SCNN1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCNN1B
genes like me logo Genes that share disorders with SCNN1B: view

No data available for Genatlas for SCNN1B Gene

Publications for SCNN1B Gene

  1. 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 4 22 46 64
  2. Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives. (PMID: 15198480) Kamide K. … Miyata T. (Hypertens. Res. 2004) 3 22 25 46 64
  3. 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
  4. Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. (PMID: 18443236) Tobin M.D. … Samani N.J. (Hypertension 2008) 3 22 46 64
  5. A polymorphic GT short tandem repeat affecting beta-ENaC mRNA expression is associated with low renin essential hypertension. (PMID: 17586416) GonzA!lez A.A. … Fardella C.E. (Am. J. Hypertens. 2007) 3 22 46 64

Products for SCNN1B Gene

Sources for SCNN1B Gene

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