ENaC γ

Target id: 741

Nomenclature: ENaC γ

Family: Epithelial sodium channel (ENaC)

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

   GtoImmuPdb view: OFF :     Currently no data for ENaC γ in GtoImmuPdb

Quaternary Structure: Complexes
ENaCαβγ
Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 649 16p12 SCNN1G sodium channel epithelial 1 gamma subunit 1
Mouse - 655 7 F2 Scnn1g sodium channel 1
Rat - 650 1q36-q41 Scnn1g sodium channel epithelial 1 gamma subunit 1
Previous and Unofficial Names
SCNEG | amiloride sensitive sodium channel gamma1 subunit | ENaC | epithelial Na(+) channel subunit gamma | epithelial sodium channel gamma subunit | gamma-ENaC | gamma-NaCH | ENaC gamma | sodium channel, non-voltage-gated 1, gamma subunit | sodium channel, non voltage gated 1 gamma subunit
Database Links
DrugBank Target
Ensembl Gene
Entrez Gene
GenitoUrinary Development Molecular Anatomy Project
Human Protein Atlas
KEGG Gene
OMIM
UniProtKB
Wikipedia
Natural/Endogenous Ligands
sodium
Clinically-Relevant Mutations and Pathophysiology
Disease:  Bronchiectasis with or without elevated sweat chloride 3; BESC3
Synonyms: Bronchiectasis [Disease Ontology: DOID:9563]
Idiopathic bronchiectasis [Orphanet: ORPHA60033]
Disease Ontology: DOID:9563
OMIM: 613071
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]

Contributors

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How to cite this page

Israel Hanukoglu.
Epithelial sodium channel (ENaC): ENaC γ. Last modified on 11/03/2016. Accessed on 14/12/2017. IUPHAR/BPS Guide to PHARMACOLOGY, http://guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=741.