Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6340
Gene name	Sodium channel epithelial 1 subunit gamma
Gene symbol	SCNN1G
Synonyms (NCBI Gene)	BESC3ENaCgENaCgammaLDLS2PHA1PHA1B3SCNEG
Chromosome	16
Chromosome location	16p12.2
Summary	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit,

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs5736	G>A	Benign-likely-benign, benign, likely-benign, pathogenic	Missense variant, coding sequence variant
rs5738	G>A	Benign-likely-benign, benign, likely-benign, pathogenic	Missense variant, coding sequence variant
rs72647541	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs137853342	G>A	Pathogenic	Coding sequence variant, stop gained
rs886041786	->GCCG	Pathogenic	Frameshift variant, coding sequence variant
rs1567262640	G>A	Pathogenic	Splice acceptor variant
rs1567270184	AGCTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1596760831	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596777509	GCAGCACCCCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596779402	G>A	Pathogenic	Splice acceptor variant
rs1596779433	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596779485	G>A	Likely-pathogenic	Coding sequence variant, stop gained

168

Show/Hide all (168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT648317	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT648316	hsa-miR-5702	HITS-CLIP	23824327
MIRT648315	hsa-miR-7154-5p	HITS-CLIP	23824327
MIRT648314	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT648313	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT648312	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT648311	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT648310	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT530818	hsa-miR-186-3p	PAR-CLIP	22012620
MIRT530816	hsa-miR-4286	PAR-CLIP	22012620
MIRT530815	hsa-miR-6887-3p	PAR-CLIP	22012620
MIRT530814	hsa-miR-7106-3p	PAR-CLIP	22012620
MIRT648317	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT648316	hsa-miR-5702	HITS-CLIP	23824327
MIRT648315	hsa-miR-7154-5p	HITS-CLIP	23824327
MIRT648314	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT648313	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT648312	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT648311	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT648310	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT530818	hsa-miR-186-3p	PAR-CLIP	22012620
MIRT530816	hsa-miR-4286	PAR-CLIP	22012620
MIRT530815	hsa-miR-6887-3p	PAR-CLIP	22012620
MIRT530814	hsa-miR-7106-3p	PAR-CLIP	22012620
MIRT1330424	hsa-miR-10a	CLIP-seq
MIRT1330425	hsa-miR-10b	CLIP-seq
MIRT1330426	hsa-miR-1285	CLIP-seq
MIRT1330427	hsa-miR-1304	CLIP-seq
MIRT1330428	hsa-miR-2116	CLIP-seq
MIRT1330429	hsa-miR-3119	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT1330431	hsa-miR-3174	CLIP-seq
MIRT1330432	hsa-miR-3187-5p	CLIP-seq
MIRT1330433	hsa-miR-3189-5p	CLIP-seq
MIRT1330434	hsa-miR-3591-3p	CLIP-seq
MIRT1330435	hsa-miR-3616-5p	CLIP-seq
MIRT1330436	hsa-miR-3620	CLIP-seq
MIRT1330437	hsa-miR-3647-5p	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330442	hsa-miR-3940-5p	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT1330445	hsa-miR-4433	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT1330447	hsa-miR-4507	CLIP-seq
MIRT1330448	hsa-miR-4677-5p	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330450	hsa-miR-4747-5p	CLIP-seq
MIRT1330451	hsa-miR-4773	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330453	hsa-miR-4795-5p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT1330456	hsa-miR-573	CLIP-seq
MIRT1330457	hsa-miR-579	CLIP-seq
MIRT1330458	hsa-miR-612	CLIP-seq
MIRT1330459	hsa-miR-635	CLIP-seq
MIRT1330460	hsa-miR-661	CLIP-seq
MIRT1330461	hsa-miR-665	CLIP-seq
MIRT1330462	hsa-miR-921	CLIP-seq
MIRT1330426	hsa-miR-1285	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT2097850	hsa-miR-3136-3p	CLIP-seq
MIRT1330431	hsa-miR-3174	CLIP-seq
MIRT1330432	hsa-miR-3187-5p	CLIP-seq
MIRT1330435	hsa-miR-3616-5p	CLIP-seq
MIRT1330437	hsa-miR-3647-5p	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT2097851	hsa-miR-433	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330450	hsa-miR-4747-5p	CLIP-seq
MIRT1330451	hsa-miR-4773	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330453	hsa-miR-4795-5p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT1330456	hsa-miR-573	CLIP-seq
MIRT1330458	hsa-miR-612	CLIP-seq
MIRT1330460	hsa-miR-661	CLIP-seq
MIRT1330462	hsa-miR-921	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT1330435	hsa-miR-3616-5p	CLIP-seq
MIRT1330436	hsa-miR-3620	CLIP-seq
MIRT1330437	hsa-miR-3647-5p	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330450	hsa-miR-4747-5p	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330453	hsa-miR-4795-5p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT2322190	hsa-miR-564	CLIP-seq
MIRT1330456	hsa-miR-573	CLIP-seq
MIRT1330459	hsa-miR-635	CLIP-seq
MIRT1330426	hsa-miR-1285	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT1330432	hsa-miR-3187-5p	CLIP-seq
MIRT1330435	hsa-miR-3616-5p	CLIP-seq
MIRT1330437	hsa-miR-3647-5p	CLIP-seq
MIRT2394095	hsa-miR-3652	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT2394096	hsa-miR-4430	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT2394097	hsa-miR-4505	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330453	hsa-miR-4795-5p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT2322190	hsa-miR-564	CLIP-seq
MIRT1330456	hsa-miR-573	CLIP-seq
MIRT1330458	hsa-miR-612	CLIP-seq
MIRT1330459	hsa-miR-635	CLIP-seq
MIRT2394098	hsa-miR-647	CLIP-seq
MIRT1330426	hsa-miR-1285	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT1330431	hsa-miR-3174	CLIP-seq
MIRT1330432	hsa-miR-3187-5p	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330451	hsa-miR-4773	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT1330458	hsa-miR-612	CLIP-seq
MIRT1330460	hsa-miR-661	CLIP-seq
MIRT1330462	hsa-miR-921	CLIP-seq
MIRT2690248	hsa-miR-1283	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT1330431	hsa-miR-3174	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT1330462	hsa-miR-921	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IMP	22864553
GO:0005272	Function	Sodium channel activity	IDA	24124190, 32729833
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11244092, 16423824, 21775436, 22493497
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24124190
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	24419567
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006883	Process	Intracellular sodium ion homeostasis	IDA	16423824
GO:0006883	Process	Intracellular sodium ion homeostasis	IEA
GO:0008217	Process	Regulation of blood pressure	NAS	24419567
GO:0009897	Component	External side of plasma membrane	IEA
GO:0015280	Function	Ligand-gated sodium channel activity	IBA
GO:0015280	Function	Ligand-gated sodium channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	18174164
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034706	Component	Sodium channel complex	IBA
GO:0034706	Component	Sodium channel complex	IDA	16423824, 17502380, 24124190, 32729833
GO:0034706	Component	Sodium channel complex	IEA
GO:0034706	Component	Sodium channel complex	IPI	21775436
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	24124190
GO:0050699	Function	WW domain binding	IEA
GO:0050699	Function	WW domain binding	IPI	10642508
GO:0050891	Process	Multicellular organismal-level water homeostasis	IDA	24124190
GO:0050914	Process	Sensory perception of salty taste	NAS	22983350
GO:0050915	Process	Sensory perception of sour taste	NAS	22983350
GO:0055078	Process	Sodium ion homeostasis	IDA	24124190
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0071468	Process	Cellular response to acidic pH	IDA	16423824
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	16423824
GO:0098719	Process	Sodium ion import across plasma membrane	IEA
GO:1904045	Process	Cellular response to aldosterone	IEA
GO:1904045	Process	Cellular response to aldosterone	NAS	24419567
GO:1904117	Process	Cellular response to vasopressin	NAS	24419567

MIM	HGNC	e!Ensembl
600761	10602	ENSG00000166828

P51170

Protein name

Epithelial sodium channel subunit gamma (ENaC subunit gamma) (ENaCG) (Epithelial Na(+) channel subunit gamma) (Gamma-ENaC) (Amiloride-sensitive sodium channel subunit gamma) (Gamma-NaCH) (Nonvoltage-gated sodium channel 1 subunit gamma) (SCNEG) (Sodium ch

Protein function

This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:7550319, PubMed:7762608, PubMed:9792722

PDB

6BQN , 6WTH , 9BLR , 9BTG , 9BTU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00858	ASC	32 → 552	Amiloride-sensitive sodium channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in kidney (at protein level). {ECO:0000269|PubMed:22207244}.

Sequence

MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFT
LTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQE
TREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKR
KVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQ
VPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLT
ESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQTKMVEKCGCAQYSQPLPPAA
NYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWL
LPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMS
CSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL

Sequence length

649

Interactions

View interactions

	KEGG		Reactome
	Taste transduction Aldosterone-regulated sodium reabsorption		Stimuli-sensing channels

308

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bronchiectasis with or without elevated sweat chloride 3	Pathogenic; Likely pathogenic	rs866495683, rs1596760831	RCV004798928 RCV000991457
Liddle syndrome 2	Pathogenic; Likely pathogenic	rs137853342, rs2141946607, rs1567270184, rs1596760831	RCV000009372 RCV000680189 RCV000684754 RCV000991457
Pseudohypoaldosteronism, type IB1, autosomal recessive	Likely pathogenic	rs764425655, rs1596760831	RCV001449732 RCV000991457
Pseudohypoaldosteronism, type IB3, autosomal recessive	Pathogenic	rs1596779402, rs1567262640, rs1596779433	RCV002310624 RCV002310625 RCV002310626
SCNN1G-related disorder	Likely pathogenic	rs1960103151	RCV003416929

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs67914754	RCV005916441
Liddle syndrome 1	Uncertain significance; Likely benign	rs386789797, rs566227302	RCV000269807 RCV000390316
Monosomy 7 myelodysplasia and leukemia syndrome 1	Conflicting classifications of pathogenicity	rs139012605	RCV005863355
Myoepithelial tumor	Uncertain significance	rs762732326	RCV002463966
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs5736	RCV005887395

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achard Thiers syndrome	Stimulate	37417251
Adenocarcinoma of Lung	Associate	34111567
Bartter syndrome type 3	Associate	18443236
Breast Neoplasms	Associate	26723502
Bronchiectasis	Associate	18507830
Carcinogenesis	Associate	34111567
Carcinoma Hepatocellular	Associate	35865652
Cardiomyopathy Dilated	Associate	26437894
Cystic Fibrosis	Associate	19017867, 25900089
Dwarfism Pituitary	Associate	25157616
Essential Hypertension	Associate	15661075
Fibroma	Associate	26121316
Glioma	Associate	26108662
Hypertension	Associate	24735600, 29792170
Hypotension	Associate	18443236, 21562341
Hypoxia Brain	Stimulate	37285404
Inflammation	Associate	26723502
Liddle Syndrome	Associate	15198480, 29792170, 30977777, 31655555, 34223773, 35723567
Malaria	Inhibit	26437894
Polycystic Ovary Syndrome	Inhibit	25450293
Potassium aggravated myotonia	Associate	26723502
Precancerous Conditions	Associate	26723502
Pseudohypoaldosteronism	Stimulate	21750640
Pseudohypoaldosteronism	Associate	23762408, 27485500
Pulmonary Arterial Hypertension	Associate	31655555, 34223773
Pulmonary Edema	Inhibit	26437894
Sarcoma	Associate	26121316
Sarcoma Ewing	Associate	26121316
Squamous Cell Carcinoma of Head and Neck	Inhibit	36389709

SCNN1G (sodium channel epithelial 1 subunit gamma)