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	6338
Gene name	Sodium channel epithelial 1 subunit beta
Gene symbol	SCNN1B
Synonyms (NCBI Gene)	BESC1ENaCbENaCbetaLIDLS1PHA1B2SCNEBbeta-ENaCbeta-NaCH
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 beta subunit,

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35731153	C>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs72654338	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs80311498	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs137852704	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852707	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852708	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852709	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852710	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852711	C>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs137852712	A>G	Pathogenic	Coding sequence variant, missense variant
rs149868979	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs387906402	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs536187488	C>T	Pathogenic	Missense variant, coding sequence variant
rs758629218	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs1182475940	C>A,G	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1555489114	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555490554	G>T	Pathogenic	Stop gained, coding sequence variant
rs1567321736	->GC	Pathogenic	Frameshift variant, coding sequence variant
rs1596894031	A>G	Pathogenic	Splice acceptor variant

Show/Hide all (35)

miRTarBase ID	miRNA	Experiments
MIRT1330418	hsa-miR-4777-5p	CLIP-seq
MIRT1330419	hsa-miR-518d-5p	CLIP-seq
MIRT1330420	hsa-miR-519b-5p	CLIP-seq
MIRT1330421	hsa-miR-519c-5p	CLIP-seq
MIRT1330422	hsa-miR-520c-5p	CLIP-seq
MIRT1330423	hsa-miR-526a	CLIP-seq
MIRT2097844	hsa-miR-185	CLIP-seq
MIRT2097845	hsa-miR-3176	CLIP-seq
MIRT2097846	hsa-miR-3922-3p	CLIP-seq
MIRT2097847	hsa-miR-4306	CLIP-seq
MIRT2097848	hsa-miR-4644	CLIP-seq
MIRT2458979	hsa-miR-1913	CLIP-seq
MIRT2458980	hsa-miR-3189-5p	CLIP-seq
MIRT2458981	hsa-miR-324-3p	CLIP-seq
MIRT2458982	hsa-miR-4758-3p	CLIP-seq
MIRT2458979	hsa-miR-1913	CLIP-seq
MIRT2458980	hsa-miR-3189-5p	CLIP-seq
MIRT2458981	hsa-miR-324-3p	CLIP-seq
MIRT2458982	hsa-miR-4758-3p	CLIP-seq
MIRT2618522	hsa-miR-132	CLIP-seq
MIRT2618523	hsa-miR-212	CLIP-seq
MIRT2618524	hsa-miR-3174	CLIP-seq
MIRT2618525	hsa-miR-4276	CLIP-seq
MIRT2618526	hsa-miR-4709-5p	CLIP-seq
MIRT2618527	hsa-miR-604	CLIP-seq
MIRT2618528	hsa-miR-647	CLIP-seq
MIRT2618529	hsa-miR-767-3p	CLIP-seq
MIRT2618522	hsa-miR-132	CLIP-seq
MIRT2618523	hsa-miR-212	CLIP-seq
MIRT2618524	hsa-miR-3174	CLIP-seq
MIRT2618525	hsa-miR-4276	CLIP-seq
MIRT2618526	hsa-miR-4709-5p	CLIP-seq
MIRT2618527	hsa-miR-604	CLIP-seq
MIRT2618528	hsa-miR-647	CLIP-seq
MIRT2618529	hsa-miR-767-3p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SP1	Unknown	11934701

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002269	Process	Leukocyte activation involved in inflammatory response	IEA
GO:0002283	Process	Neutrophil activation involved in immune response	IEA
GO:0003014	Process	Renal system process	IEA
GO:0005272	Function	Sodium channel activity	IDA	24124190, 32729833
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11244092, 11359767, 20237237, 21765395, 22493497, 39009827
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:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014824	Process	Artery smooth muscle contraction	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:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032094	Process	Response to food	IEA
GO:0032341	Process	Aldosterone metabolic process	IEA
GO:0034101	Process	Erythrocyte homeostasis	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:0035264	Process	Multicellular organism growth	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	24124190
GO:0042045	Process	Epithelial fluid transport	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: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:0055075	Process	Potassium ion homeostasis	IEA
GO:0055078	Process	Sodium ion homeostasis	IDA	24124190
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0070062	Component	Extracellular exosome	IEA
GO:0070254	Process	Mucus secretion	IEA
GO:0070944	Process	Neutrophil-mediated killing of bacterium	IEA
GO:0071468	Process	Cellular response to acidic pH	IDA	16423824
GO:0071468	Process	Cellular response to acidic pH	IEA
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
600760	10600	ENSG00000168447

P51168

Protein name

Epithelial sodium channel subunit beta (Beta-ENaC) (ENaC subunit beta) (ENaCB) (Epithelial Na(+) channel subunit beta) (Amiloride-sensitive sodium channel subunit beta) (Beta-NaCH) (Nonvoltage-gated sodium channel 1 subunit beta) (SCNEB)

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:7762608, PubMed:9792722). ENaC operates

PDB

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00858	ASC	29 → 543	Amiloride-sensitive sodium channel	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in placenta, lung and kidney (PubMed:7762608). Expressed in kidney (at protein level) (PubMed:22207244). {ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:7762608}.

Sequence

MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTLLFA
ALVCWQWGIFIRTYLSWEVSVSLSVGFKTMDFPAVTICNASPFKYSKIKHLLKDLDELME
AVLERILAPELSHANATRNLNFSIWNHTPLVLIDERNPHHPMVLDLFGDNHNGLTSSSAS
EKICNAHGCKMAMRLCSLNRTQCTFRNFTSATQALTEWYILQATNIFAQVPQQELVEMSY
PGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMTEKALPSANPGTEFGLKLILD
IGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGIYAMSGTETSIGVLVDKLQRMGEPYSP
CTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQDHMIRNCNCGHYLYPLPRGEKYCNNRDF
PDWAHCYSDLQMSVAQRETCIGMCKESCNDTQYKMTISMADWPSEASEDWIFHVLSQERD
QSTNITLSRKGIVKLNIYFQEFNYRTIEESAANNIVWLLSNLGGQFGFWMGGSVLCLIEF
GEIIIDFVWITIIKLVALAKSLRQRRAQASYAGPPPTVAELVEAHTNFGFQPDTAPRSPN
TGPYPSEQALPIPGTPPPNYDSLRLQPLDVIESDSEGDAI

Sequence length

640

Interactions

View interactions

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

449

Show/Hide Causal Diseases (6)

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 1	Likely pathogenic; Pathogenic	rs747116196, rs137852704, rs387906402, rs137852708, rs137852709, rs1596894031, rs137852710, rs536187488	RCV001849569 RCV005003349 RCV005016252 RCV005016253 RCV000009386 RCV000009387 RCV000009389 RCV005021299
Liddle syndrome 1	Likely pathogenic; Pathogenic	rs747116196, rs2506514869, rs137852704, rs387906402, rs137852707, rs2142050610, rs137852708, rs137852709, rs536187488	RCV005005282 RCV002281807 RCV000009378 RCV000009379 RCV000009381 RCV000009383 RCV000009384 RCV000009385 RCV002496312 RCV005021299
Opsoclonus-myoclonus syndrome	Likely pathogenic	rs2506512755	RCV002286329
Pseudohypoaldosteronism, type IB1, autosomal recessive	Pathogenic; Likely pathogenic	rs2142020387, rs137852709, rs1182475940	RCV001837048 RCV002496312 RCV000578168
Pseudohypoaldosteronism, type IB2, autosomal recessive	Likely pathogenic; Pathogenic	rs747116196, rs137852704, rs387906402, rs137852708, rs1962240610, rs2506496434, rs2506410452, rs2506496921, rs536187488, rs550424284	RCV005005282 RCV005003349 RCV005016252 RCV005016253 RCV003324626 RCV003447445 RCV003447446 RCV003447447 RCV005021299 RCV003229567
SCNN1B-related disorder	Likely pathogenic; Pathogenic	rs2506491717, rs752797855, rs550424284	RCV003397812 RCV003982815 RCV004751879

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs368632136	RCV005932553
Cholangiocarcinoma	Benign	rs35989682	RCV005923745
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Uncertain significance	rs766620267	RCV002287700
Low renin, low aldosterone hypertension	Conflicting classifications of pathogenicity	rs149868979	RCV000680441
Lung cancer	Benign	rs35989682	RCV005923746
Malignant tumor of esophagus	Benign	rs34622290, rs35989682	RCV005915904 RCV005923743
Pruritus, hereditary localized	Conflicting classifications of pathogenicity	rs140927806	RCV005628138
Schizophrenia	Uncertain significance	rs2506360174	RCV002463523
Thymoma	Benign	rs34622290, rs35989682	RCV005915905 RCV005923744

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	34111567
Bronchiectasis	Associate	18507830, 33526882
Carcinogenesis	Associate	34111567
Carcinoma Squamous Cell	Associate	34659450
Cardiovascular Diseases	Associate	36899055
Colorectal Neoplasms	Associate	35093172
Colorectal Neoplasms	Inhibit	36564468
Cystic Fibrosis	Associate	17560176, 18507830, 19017867, 25900089, 31532390, 33384439, 34680949, 35462606
Essential Hypertension	Associate	15661075, 18184758
Glioma	Associate	37334354
Hypertension	Associate	15198480, 15661075, 21107496, 27900368, 29580127, 29792170, 32698182, 36899055
Hypertension Renovascular	Associate	15198480
Hypotension	Associate	18443236
Inflammation	Associate	31532390
Liddle Syndrome	Associate	15198480, 15661075, 27900368, 29792170, 31437854, 31655555, 32698182, 34223773
Lung Diseases	Associate	17560176, 18507830
Neoplasms	Associate	31959204
Osteoporosis	Associate	21611967
Pseudohypoaldosteronism	Associate	23762408, 27900368
Pulmonary Arterial Hypertension	Associate	34223773
Pulmonary Disease Chronic Obstructive	Associate	25329998
Respiratory Distress Syndrome	Associate	26445141
Stomach Neoplasms	Associate	31959204
Stroke	Associate	32698182

SCNN1B (sodium channel epithelial 1 subunit beta)