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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6337
Gene name	Sodium channel epithelial 1 subunit alpha
Gene symbol	SCNN1A
Synonyms (NCBI Gene)	BESC2ENaCaENaCalphaLIDLS3PHA1B1SCNEASCNN1
Chromosome	12
Chromosome location	12p13.31
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 alpha subunit,

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs142439390	C>T	Pathogenic	Splice donor variant
rs1592074026	T>-	Pathogenic	Frameshift variant, coding sequence variant

115

Show/Hide all (115)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	25173609
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	25173609
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	25173609
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	25173609
MIRT1330375	hsa-miR-1224-3p	CLIP-seq
MIRT1330376	hsa-miR-1260	CLIP-seq
MIRT1330377	hsa-miR-1260b	CLIP-seq
MIRT1330378	hsa-miR-1280	CLIP-seq
MIRT1330379	hsa-miR-153	CLIP-seq
MIRT1330380	hsa-miR-1827	CLIP-seq
MIRT1330381	hsa-miR-2110	CLIP-seq
MIRT1330382	hsa-miR-2117	CLIP-seq
MIRT1330383	hsa-miR-2682	CLIP-seq
MIRT1330384	hsa-miR-3065-3p	CLIP-seq
MIRT1330385	hsa-miR-3128	CLIP-seq
MIRT1330386	hsa-miR-3150a-3p	CLIP-seq
MIRT1330387	hsa-miR-3155	CLIP-seq
MIRT1330388	hsa-miR-3155b	CLIP-seq
MIRT1330389	hsa-miR-326	CLIP-seq
MIRT1330390	hsa-miR-330-5p	CLIP-seq
MIRT1330391	hsa-miR-3659	CLIP-seq
MIRT1330392	hsa-miR-3918	CLIP-seq
MIRT1330393	hsa-miR-3921	CLIP-seq
MIRT1330394	hsa-miR-3929	CLIP-seq
MIRT1330395	hsa-miR-4251	CLIP-seq
MIRT1330396	hsa-miR-4255	CLIP-seq
MIRT1330397	hsa-miR-4257	CLIP-seq
MIRT1330398	hsa-miR-4263	CLIP-seq
MIRT1330399	hsa-miR-4271	CLIP-seq
MIRT1330400	hsa-miR-4329	CLIP-seq
MIRT1330401	hsa-miR-4419b	CLIP-seq
MIRT1330402	hsa-miR-4468	CLIP-seq
MIRT1330403	hsa-miR-4475	CLIP-seq
MIRT1330404	hsa-miR-4478	CLIP-seq
MIRT1330405	hsa-miR-449c	CLIP-seq
MIRT1330406	hsa-miR-4521	CLIP-seq
MIRT1330407	hsa-miR-4640-5p	CLIP-seq
MIRT1330408	hsa-miR-4653-5p	CLIP-seq
MIRT1330409	hsa-miR-4685-5p	CLIP-seq
MIRT1330410	hsa-miR-4720-5p	CLIP-seq
MIRT1330411	hsa-miR-4725-3p	CLIP-seq
MIRT1330412	hsa-miR-4726-5p	CLIP-seq
MIRT1330413	hsa-miR-4799-3p	CLIP-seq
MIRT1330414	hsa-miR-484	CLIP-seq
MIRT1330415	hsa-miR-532-3p	CLIP-seq
MIRT1330416	hsa-miR-759	CLIP-seq
MIRT1330417	hsa-miR-760	CLIP-seq
MIRT2322154	hsa-miR-1200	CLIP-seq
MIRT2322155	hsa-miR-1225-3p	CLIP-seq
MIRT2322156	hsa-miR-1233	CLIP-seq
MIRT2322157	hsa-miR-124	CLIP-seq
MIRT2322158	hsa-miR-125a-5p	CLIP-seq
MIRT2322159	hsa-miR-125b	CLIP-seq
MIRT2322160	hsa-miR-1285	CLIP-seq
MIRT2322161	hsa-miR-129-3p	CLIP-seq
MIRT2322162	hsa-miR-1910	CLIP-seq
MIRT2322163	hsa-miR-205	CLIP-seq
MIRT2322164	hsa-miR-2114	CLIP-seq
MIRT2322165	hsa-miR-2115	CLIP-seq
MIRT2322166	hsa-miR-298	CLIP-seq
MIRT2322167	hsa-miR-31	CLIP-seq
MIRT2322168	hsa-miR-3166	CLIP-seq
MIRT2322169	hsa-miR-3187-5p	CLIP-seq
MIRT2322170	hsa-miR-3688-5p	CLIP-seq
MIRT2322171	hsa-miR-3977	CLIP-seq
MIRT2322172	hsa-miR-4319	CLIP-seq
MIRT2322173	hsa-miR-4324	CLIP-seq
MIRT2322174	hsa-miR-455-3p	CLIP-seq
MIRT2322175	hsa-miR-4708-3p	CLIP-seq
MIRT2322176	hsa-miR-4719	CLIP-seq
MIRT2322177	hsa-miR-4732-3p	CLIP-seq
MIRT2322178	hsa-miR-506	CLIP-seq
MIRT2322179	hsa-miR-513b	CLIP-seq
MIRT2322180	hsa-miR-516a-3p	CLIP-seq
MIRT2322181	hsa-miR-544b	CLIP-seq
MIRT2322182	hsa-miR-548n	CLIP-seq
MIRT2322183	hsa-miR-553	CLIP-seq
MIRT2322184	hsa-miR-576-3p	CLIP-seq
MIRT2322185	hsa-miR-612	CLIP-seq
MIRT2322186	hsa-miR-660	CLIP-seq
MIRT2322187	hsa-miR-670	CLIP-seq
MIRT2322188	hsa-miR-938	CLIP-seq
MIRT2322189	hsa-miR-95	CLIP-seq
MIRT2458970	hsa-miR-1245	CLIP-seq
MIRT2458971	hsa-miR-1262	CLIP-seq
MIRT2458972	hsa-miR-1293	CLIP-seq
MIRT2458973	hsa-miR-3119	CLIP-seq
MIRT2458974	hsa-miR-3140-3p	CLIP-seq
MIRT2458975	hsa-miR-3170	CLIP-seq
MIRT2458976	hsa-miR-4483	CLIP-seq
MIRT2458977	hsa-miR-4701-3p	CLIP-seq
MIRT2458978	hsa-miR-4765	CLIP-seq
MIRT2458971	hsa-miR-1262	CLIP-seq
MIRT2458972	hsa-miR-1293	CLIP-seq
MIRT2458973	hsa-miR-3119	CLIP-seq
MIRT2458974	hsa-miR-3140-3p	CLIP-seq
MIRT2458975	hsa-miR-3170	CLIP-seq
MIRT2458976	hsa-miR-4483	CLIP-seq
MIRT2458977	hsa-miR-4701-3p	CLIP-seq
MIRT2458970	hsa-miR-1245	CLIP-seq
MIRT1330381	hsa-miR-2110	CLIP-seq
MIRT1330386	hsa-miR-3150a-3p	CLIP-seq
MIRT2618520	hsa-miR-4260	CLIP-seq
MIRT1330399	hsa-miR-4271	CLIP-seq
MIRT1330411	hsa-miR-4725-3p	CLIP-seq
MIRT2458978	hsa-miR-4765	CLIP-seq
MIRT2618521	hsa-miR-7	CLIP-seq
MIRT2458970	hsa-miR-1245	CLIP-seq
MIRT1330381	hsa-miR-2110	CLIP-seq
MIRT1330386	hsa-miR-3150a-3p	CLIP-seq
MIRT2618520	hsa-miR-4260	CLIP-seq
MIRT1330399	hsa-miR-4271	CLIP-seq
MIRT1330411	hsa-miR-4725-3p	CLIP-seq
MIRT2458978	hsa-miR-4765	CLIP-seq
MIRT2618521	hsa-miR-7	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
MLLT3	Activation	18528488
NR3C1	Unknown	10212217

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001669	Component	Acrosomal vesicle	ISS
GO:0005272	Function	Sodium channel activity	IDA	24124190, 32729833
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11244092, 11359767, 16423824, 21775436, 22493497, 23665454
GO:0005737	Component	Cytoplasm	IDA	28130590
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
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:0005929	Component	Cilium	IEA
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: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	IDA	22207244, 28130590
GO:0016324	Component	Apical plasma membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IDA	22207244
GO:0031514	Component	Motile cilium	IEA
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:0042995	Component	Cell projection	IEA
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:0050891	Process	Multicellular organismal-level water homeostasis	IEA
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:0060170	Component	Ciliary membrane	IDA	22207244
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0070062	Component	Extracellular exosome	IEA
GO:0071468	Process	Cellular response to acidic pH	IDA	16423824
GO:0071468	Process	Cellular response to acidic pH	IEA
GO:0097228	Component	Sperm principal piece	ISS
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
600228	10599	ENSG00000111319

P37088

Protein name

Epithelial sodium channel subunit alpha (Alpha-ENaC) (ENaC subunit alpha) (ENaCA) (Epithelial Na(+) channel subunit alpha) (Alpha-NaCH) (Amiloride-sensitive sodium channel subunit alpha) (Nonvoltage-gated sodium channel 1 subunit alpha) (SCNEA) (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:8023962, PubMed:8278374, PubMed:9792722

PDB

2M3O , 6BQN , 6WTH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00858	ASC	62 → 572	Amiloride-sensitive sodium channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level) (PubMed:22207244). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchi

Sequence

MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFE
FFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINL
NSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDL
RGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIGFQLCNQNKSDCFYQT
YSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHP
MYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPA
FMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSC
FQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCS
VTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESP
SVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGR
GAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGAS
SSTCPLGGP

Sequence length

669

Interactions

View interactions

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

340

Show/Hide Causal Diseases (9)

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 2	Pathogenic; Likely pathogenic	rs756434927, rs61759860, rs372956932, rs142439390, rs1565488675, rs1369791519, rs767638989	RCV005003350 RCV000009852 RCV003883309 RCV005010480 RCV001535836 RCV002497281 RCV002499461
Idiopathic bronchiectasis	Likely pathogenic	rs1555112332	RCV000614949
Incidental Discovery	Pathogenic	rs756434927	RCV005428991
Liddle syndrome 3	Pathogenic; Likely pathogenic	rs756434927, rs372956932, rs142439390, rs1565488675, rs1369791519, rs767638989	RCV005003350 RCV003883309 RCV005010480 RCV001535836 RCV002497281 RCV002499461
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs61759913	RCV002274369
Pseudohypoaldosteronism	Pathogenic	rs767638989	RCV001328259
Pseudohypoaldosteronism, type IB1, autosomal recessive	Pathogenic; Likely pathogenic	rs2136865918, rs2497885818, rs765835593, rs756434927, rs1592074026, rs137852635, rs2497930442, rs372956932, rs142439390, rs1565488675, rs1369791519, rs1565478701, rs767638989, rs1948331954	RCV002052208 RCV002282741 RCV000009845 RCV000009847 RCV000009848 RCV000009849 RCV003225646 RCV003883309 RCV003227777 RCV001535836 RCV000988776 RCV000988777 RCV002499461 RCV001280871
Renal tubulopathies	Likely pathogenic; Pathogenic	rs61759913	RCV006258781
SCNN1A-related disorder	Likely pathogenic	rs2497879030	RCV004542624

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Bronchiectasis with or without elevated sweat chloride 1	Likely benign	rs72645139, rs72645138	RCV001823904 RCV001823903
Brugada syndrome 1	Uncertain significance	rs200923755	RCV004577703
Cervical cancer	Conflicting classifications of pathogenicity	rs3764873	RCV005893138
Clear cell carcinoma of kidney	Benign	rs3741913	RCV005889766
Gastric cancer	Conflicting classifications of pathogenicity	rs3764873	RCV005893139
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs376456435	RCV005893137
Monosomy 7 myelodysplasia and leukemia syndrome 1	Uncertain significance	rs72657557	RCV005863811
Prostate cancer	Uncertain significance	rs193920773	RCV000149037
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	rs3764873, rs573341191	RCV005893140 RCV005913704

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Lung Injury	Inhibit	17580309
Adrenal Gland Neoplasms	Associate	33829730
Breast Neoplasms	Associate	18221536, 24297604, 24929677, 26317411
Brugada Syndrome	Associate	25339316
COVID 19	Associate	32452762
Cystic Fibrosis	Associate	19017867, 21917531, 22776878, 25900089
Cysts	Associate	31570523
Death Sudden Cardiac	Associate	25339316
Diabetes Mellitus	Associate	35466133
Diarrhea 3 Secretory Sodium Congenital	Associate	25517724
Hypertension	Associate	24735600, 25064769, 28710092, 30423324
Kidney Diseases	Associate	35466133
Liddle Syndrome	Associate	28710092, 31655555, 34223773
Lipid Metabolism Disorders	Associate	36915125
Metabolic Syndrome	Stimulate	19619703
Metabolic Syndrome	Associate	19619703
Myotonic Dystrophy	Associate	22776878
Neuroblastoma	Associate	21314941
Ovarian Neoplasms	Associate	32977853, 34823420
Pancreatic Neoplasms	Associate	34558641
Pediatric Obesity	Associate	26611714
Prostatic Neoplasms	Associate	36915125
Pseudohypoaldosteronism	Associate	21653223, 23762408, 27900368, 33829730, 34134742, 38288475
Pulmonary Arterial Hypertension	Associate	34223773
Respiratory Distress Syndrome	Associate	26611714
Respiratory Distress Syndrome Newborn	Associate	26611714
Respiratory Insufficiency	Associate	32452762
Respiratory Tract Diseases	Associate	21917531
Syncope	Associate	25339316
Taste Disorders	Associate	21653223, 29036630

SCNN1A (sodium channel epithelial 1 subunit alpha)