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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6337
Gene name Gene Name - the full gene name approved by the HGNC.	Sodium channel epithelial 1 subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SCNN1A
Synonyms (NCBI Gene) Gene synonyms aliases	BESC2, ENaCa, ENaCalpha, LIDLS3, PHA1B1, SCNEA, SCNN1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BESC2, LIDLS3, PHA1B1
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.	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,

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

Show/Hide all(115)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25173609
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25173609
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25173609
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western 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

Transcription factors

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Transcription factor	Regulation	Reference
MLLT3	Activation	18528488
NR3C1	Unknown	10212217

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	ISS
GO:0005515	Function	Protein binding	IPI	11244092, 11359767, 16423824, 21775436, 22493497, 23665454
GO:0005737	Component	Cytoplasm	IDA	28130590
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	24124190
GO:0015280	Function	Ligand-gated sodium channel activity	IDA	24124190
GO:0016324	Component	Apical plasma membrane	IDA	22207244, 28130590
GO:0031514	Component	Motile cilium	IDA	22207244
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034706	Component	Sodium channel complex	IBA	21873635
GO:0034706	Component	Sodium channel complex	IDA	24124190
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0035725	Process	Sodium ion transmembrane transport	IDA	24124190
GO:0050699	Function	WW domain binding	IPI	10642508
GO:0050891	Process	Multicellular organismal water homeostasis	IDA	24124190
GO:0050896	Process	Response to stimulus	IEA
GO:0050909	Process	Sensory perception of taste	IEA
GO:0055078	Process	Sodium ion homeostasis	IDA	24124190
GO:0060170	Component	Ciliary membrane	IDA	22207244
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0097228	Component	Sperm principal piece	ISS

MIM	HGNC	e!Ensembl
600228	10599	ENSG00000111319

Protein

UniProt ID

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

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016 View all (214 more)
Brugada syndrome	Brugada syndrome	rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776 View all (97 more)
Neoplasm	Neoplasms, Germ Cell and Embryonal, Neoplasms, Embryonal and Mixed	rs137854562, rs137854565, rs137854568, rs137854574, rs121434220, rs121909218, rs121909222, rs587776667, rs606231169, rs587776701, rs121913388, rs137852578, rs137852216, rs121912651, rs28934575 View all (247 more)	16168501
Cystic fibrosis	Cystic Fibrosis	rs113993960, rs121908745, rs77101217, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121908758, rs75527207, rs74597325, rs75549581 View all (694 more)	15077107, 19462466
Hyperaldosteronism	Hyperaldosteronism	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595
Hypertension	Hypertensive disease	rs13306026	23348737, 11752024
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Liddle syndrome	Liddle Syndrome, LIDDLE SYNDROME 3, Liddle syndrome	rs137853342, rs137852704, rs387906402, rs137852707, rs2142050610, rs137852708, rs2141946607, rs1567270184	28710092, 23348737, 10586178
Pseudohypoaldosteronism	Pseudohypoaldosteronism, Pseudohypoaldosteronism, Type I, Pseudohypoaldosteronism, Type I, Autosomal Dominant, Pseudohypoaldosteronism, Type I, Autosomal Recessive, Pseudohypoaldosteronism, Type II, Generalized pseudohypoaldosteronism type 1	rs137853092, rs137853093, rs137853094, rs121912562, rs1560949756, rs1560910156, rs121912563, rs1560735659, rs121912564, rs121912565, rs121912566, rs121912567, rs121912568, rs121912569, rs121912570 View all (53 more)	11752024, 10586178, 19571553, 23762408, 23416952, 15853823, 18634878
Renal insufficiency	Renal Insufficiency	rs1596536873

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Myocardial infarction	Myocardial Infarction	ClinVar
Liddle Syndrome	Liddle syndrome 3	GenCC
Psoriasis	Psoriasis	GWAS

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining
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)