Entity Details

Primary name SCNNG_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51170
EntryNameSCNNG_HUMAN
FullNameAmiloride-sensitive sodium channel subunit gamma
TaxID9606
Evidenceevidence at protein level
Length649
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesSCNN1G

GO terms

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GOName
GO:0005216 ion channel activity
GO:0005272 sodium channel activity
GO:0005654 nucleoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006814 sodium ion transport
GO:0007588 excretion
GO:0009897 external side of plasma membrane
GO:0015280 ligand-gated sodium channel activity
GO:0016324 apical plasma membrane
GO:0034220 ion transmembrane transport
GO:0034706 sodium channel complex
GO:0035725 sodium ion transmembrane transport
GO:0050699 WW domain binding
GO:0050891 multicellular organismal water homeostasis
GO:0050909 sensory perception of taste
GO:0055078 sodium ion homeostasis
GO:0070062 extracellular exosome
GO:0098797 plasma membrane protein complex
GO:1904045 cellular response to aldosterone

Subcellular Location

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Subcellular Location
Apical cell membrane

Domains

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DomainNameCategoryType
IPR001873 Epithelial sodium channelFamilyFamily
IPR004724 Epithelial sodium channel, chordatesFamilyFamily
IPR020903 Epithelial sodium channel, conserved siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
618114 OMIMLiddle syndrome 2 (LIDLS2)A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. The disease is caused by variants affecting the gene represented in this entry.
613071 OMIMBronchiectasis with or without elevated sweat chloride 3 (BESC3)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00384 TriamtereneDrugbanksmall molecule
DB00594 AmilorideDrugbanksmall molecule
DB14509 Lithium carbonateDrugbanksmall molecule