ENaC β

Target id: 739

Nomenclature: ENaC β

Family: Epithelial sodium channels (ENaC)

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

Quaternary Structure: Complexes
ENaCαβγ
Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 640 16p12.2-p12.1 SCNN1B sodium channel epithelial 1 beta subunit 1
Mouse - 638 7 F2 Scnn1b sodium channel, nonvoltage-gated 1 beta 1
Rat - 638 1q36-q41 Scnn1b sodium channel epithelial 1 beta subunit 1
Previous and Unofficial Names
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
Database Links
DrugBank Target
Ensembl Gene
Entrez Gene
GeneCards
GenitoUrinary Development Molecular Anatomy Project
Human Protein Reference Database
InterPro
KEGG Gene
NeXtProt
OMIM
PhosphoSitePlus
TreeFam
UniProtKB
Wikipedia
Natural/Endogenous Ligands
sodium
Clinically-Relevant Mutations and Pathophysiology
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

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1. Hanukoglu I, Hanukoglu A. (2016) Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene579 (2): 95-132. [PMID:26772908]

How to cite this page

Israel Hanukoglu.
Epithelial sodium channels (ENaC): ENaC β. Last modified on 11/03/2016. Accessed on 30/04/2016. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=739.