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.	6338
Gene name Gene Name - the full gene name approved by the HGNC.	Sodium channel epithelial 1 subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SCNN1B
Synonyms (NCBI Gene) Gene synonyms aliases	BESC1, ENaCb, ENaCbeta, LIDLS1, PHA1B2, SCNEB, beta-ENaC, beta-NaCH
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BESC1, LIDLS1, PHA1B2
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p12.2
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 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

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
SP1	Unknown	11934701

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11244092, 11359767, 20237237, 21765395, 22493497
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:0006814	Process	Sodium ion transport	TAS	8521520
GO:0007588	Process	Excretion	TAS	9118951
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	IDA	24124190
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
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:0042045	Process	Epithelial fluid transport	IEA
GO:0042493	Process	Response to drug	IEA
GO:0050699	Function	WW domain binding	IPI	10642508
GO:0050891	Process	Multicellular organismal water homeostasis	IDA	24124190
GO:0050909	Process	Sensory perception of taste	IEA
GO:0055078	Process	Sodium ion homeostasis	IDA	24124190
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0098797	Component	Plasma membrane protein complex	IEA
GO:1904045	Process	Cellular response to aldosterone	IEA

MIM	HGNC	e!Ensembl
600760	10600	ENSG00000168447

Protein

UniProt ID

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

Show/Hide Causal Diseases (11)

Disease term	Disease name	dbSNP ID	References
Causal
Bartter syndrome	Bartter Disease	rs74315284, rs74315285, rs1389952796, rs74315286, rs74315287, rs74315288, rs74315289, rs121908144, rs121908145, rs121909137, rs121909138, rs121909131, rs121909132, rs121909133, rs121909134 View all (58 more)
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016 View all (214 more)	23837941
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)
Cystic fibrosis	Cystic Fibrosis	rs113993960, rs121908745, rs77101217, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121908758, rs75527207, rs74597325, rs75549581 View all (694 more)	16207733, 16463024
Hyperaldosteronism	Hyperaldosteronism	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595
Hypertension	Hypertensive disease	rs13306026	19344079, 15198480, 15174897
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Liddle syndrome	Liddle Syndrome	rs137853342, rs137852704, rs387906402, rs137852707, rs2142050610, rs137852708, rs2141946607, rs1567270184	19344079, 8524790, 7550319, 18398334, 15483078, 9626162, 9794716, 8601645
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)	8589714, 15483078, 31018202, 19571553, 23837941, 23426840
Renal insufficiency	Renal Insufficiency	rs1596536873

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Myocardial infarction	Myocardial Infarction	ClinVar
Liddle Syndrome	Liddle syndrome 1	GenCC

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text Mining
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)