Quaternary Structure: Complexes

ENaCαβγ

Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	2	669	12p13	SCNN1A	sodium channel epithelial 1 subunit alpha	1
Mouse	2	699	6 59.32 cM	Scnn1a	sodium channel, nonvoltage-gated 1 alpha	1
Rat	-	698	4q42	Scnn1a	sodium channel epithelial 1 subunit alpha	1

Previous and Unofficial Names

SCNN1 | alpha-ENaC | amiloride-sensitive sodium channel subunit alpha | epithelial Na(+) channel subunit alpha | epithelial sodium channel alpha subunit | nonvoltage-gated sodium channel 1 subunit alpha | SCNEA | ENaC alpha | sodium channel, non-voltage-gated 1 alpha subunit | sodium channel, non voltage gated 1 alpha subunit | sodium channel | sodium channel epithelial 1 alpha subunit

Database Links
Alphafold	P37088 (Hs), Q61180 (Mm), Q9Z2W4 (Rn)
ChEMBL Target	CHEMBL1791 (Hs), CHEMBL3608200 (Mm)
DrugBank Target	P37088 (Hs)
Ensembl Gene	ENSG00000111319 (Hs), ENSMUSG00000030340 (Mm), ENSRNOG00000019368 (Rn)
Entrez Gene	6337 (Hs), 20276 (Mm), 25122 (Rn)
Human Protein Atlas	ENSG00000111319 (Hs)
KEGG Gene	hsa:6337 (Hs), mmu:20276 (Mm), rno:25122 (Rn)
OMIM	600228 (Hs)
Pharos	P37088 (Hs)
UniProtKB	P37088 (Hs), Q61180 (Mm), Q9Z2W4 (Rn)
Wikipedia	SCNN1A (Hs)

Natural/Endogenous Ligands
sodium

Clinically-Relevant Mutations and Pathophysiology
Disease:  Bronchiectasis with or without elevated sweat chloride 2; BESC2 Synonyms: Bronchiectasis [Disease Ontology: DOID:9563] Idiopathic bronchiectasis [Orphanet: ORPHA60033] Disease Ontology: DOID:9563 OMIM: 613021 Orphanet: ORPHA60033
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