Top ▲

ENaC β

Click here for help

Target not currently curated in GtoImmuPdb

Target id: 739

Nomenclature: ENaC β

Family: Epithelial sodium channel (ENaC)

Quaternary Structure: Complexes
ENaCαβγ
Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 2 640 16p12.2-p12.1 SCNN1B sodium channel epithelial 1 subunit beta 1
Mouse 2 638 7 65.07 cM Scnn1b sodium channel, nonvoltage-gated 1 beta 1
Rat 2 638 1q36 Scnn1b sodium channel epithelial 1 subunit beta 1
Previous and Unofficial Names Click here for help
ENaCbeta | beta-ENaC | beta-NaCH | epithelial Na(+) channel subunit beta | RNENACB | SCNEB | ENaC beta | sodium channel, non-voltage-gated 1, beta subunit | sodium channel, non voltage gated 1 beta subunit | sodium channel | sodium channel epithelial 1 beta subunit
Database Links Click here for help
ChEMBL Target
DrugBank Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Pharos
UniProtKB
Wikipedia
Natural/Endogenous Ligands Click here for help
sodium
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Bronchiectasis with or without elevated sweat chloride 1, BESC1
Synonyms: Bronchiectasis [Disease Ontology: DOID:9563]
Idiopathic bronchiectasis [Orphanet: ORPHA60033]
Disease Ontology: DOID:9563
OMIM: 211400
Orphanet: ORPHA60033
Disease:  Liddle syndrome; LIDLS
Disease Ontology: DOID:0050477
OMIM: 177200
Orphanet: ORPHA526
Disease:  Pseudohypoaldosteronism, type I, autosomal recessive; PHA1B
Synonyms: Autosomal recessive pseudohypoaldosteronism type 1 [Orphanet: ORPHA171876]
Generalized pseudohypoaldosteronism type 1 [Orphanet: ORPHA171876]
Pseudohypoaldosteronism [Disease Ontology: DOID:4479]
Disease Ontology: DOID:4479
OMIM: 264350
Orphanet: ORPHA171876

References

Show »

1. Hanukoglu I, Hanukoglu A. (2016) Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene, 579 (2): 95-132. [PMID:26772908]

Contributors

Show »

How to cite this page