SCNN1B sodium channel epithelial 1 subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCNN1Bprovided by HGNC
Official Full Name: sodium channel epithelial 1 subunit betaprovided by HGNC
Primary source: HGNC:HGNC:10600
See related: Ensembl:ENSG00000168447 MIM:600760; AllianceGenome:HGNC:10600
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BESC1; ENaCb; SCNEB; LIDLS1; PHA1B2; ENaCbeta; beta-ENaC; beta-NaCH
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, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
Expression: Biased expression in esophagus (RPKM 18.7), colon (RPKM 18.2) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (23278231..23381294)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (23554125..23657344)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (23313623..23392615)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SCNN1B regulates the proliferation, migration, and collagen deposition of human lung fibroblasts.
Title: SCNN1B regulates the proliferation, migration, and collagen deposition of human lung fibroblasts.
Genetic variation in salt taste receptors impact salt intake and blood pressure.
Title: Genetic variation in salt taste receptors impact salt intake and blood pressure.
Identification of a novel frameshift mutation in the SCNN1B causing Liddle syndrome.
Title: Identification of a novel frameshift mutation in the SCNN1B causing Liddle syndrome.
The sodium channel subunit SCNN1B suppresses colorectal cancer via suppression of active c-Raf and MAPK signaling cascade.
Title: The sodium channel subunit SCNN1B suppresses colorectal cancer via suppression of active c-Raf and MAPK signaling cascade.
Rare Variants in Genes Encoding Subunits of the Epithelial Na[+] Channel Are Associated With Blood Pressure and Kidney Function.
Title: Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function.
Downregulation of epithelial sodium channel (ENaC) activity in cystic fibrosis cells by epigenetic targeting.
Title: Downregulation of epithelial sodium channel (ENaC) activity in cystic fibrosis cells by epigenetic targeting.
Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene SCNN1B in Three Independent F508del-CFTR Homozygous Patient Populations.
Title: Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene SCNN1B in Three Independent F508del-CFTR Homozygous Patient Populations.
A novel nonsense mutation in the beta-subunit of the epithelial sodium channel causing Liddle syndrome.
Title: A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome.
Integrative analyses identified ion channel genes GJB2 and SCNN1B as prognostic biomarkers and therapeutic targets for lung adenocarcinoma.
Title: Integrative analyses identified ion channel genes GJB2 and SCNN1B as prognostic biomarkers and therapeutic targets for lung adenocarcinoma.
The SPLUNC1-betaENaC complex prevents Burkholderia cenocepacia invasion in normal airway epithelia.
Title: The SPLUNC1-βENaC complex prevents Burkholderia cenocepacia invasion in normal airway epithelia.

Submit: New GeneRIF Correction See all GeneRIFs (98)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bronchiectasis with or without elevated sweat chloride 1 MedGen: C2749757 OMIM: 211400 GeneReviews: Not available	Compare labs
Liddle syndrome 1 MedGen: CN031472 OMIM: 177200 GeneReviews: Not available	not available
Pseudohypoaldosteronism, type IB2, autosomal recessive MedGen: C5774255 OMIM: 620125 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S3130 (e-PCR)
- UniSTS:58677

RH79175 (e-PCR)
- UniSTS:57248

STS-X87159 (e-PCR)
- UniSTS:45997

D16S2760 (e-PCR)
- UniSTS:153330

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables WW domain binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ligand-gated sodium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aldosterone metabolic process	IEA Inferred from Electronic Annotation more info
involved_in artery smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in cellular response to acidic pH	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to aldosterone	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to vasopressin	NAS Non-traceable Author Statement more info	PubMed
involved_in epithelial fluid transport	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte homeostasis	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in intracellular sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in leukocyte activation involved in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in mucus secretion	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal-level water homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in neutrophil activation involved in immune response	IEA Inferred from Electronic Annotation more info
involved_in neutrophil-mediated killing of bacterium	IEA Inferred from Electronic Annotation more info
involved_in potassium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	NAS Non-traceable Author Statement more info	PubMed
involved_in renal system process	IEA Inferred from Electronic Annotation more info
involved_in response to food	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of salty taste	NAS Non-traceable Author Statement more info	PubMed
involved_in sensory perception of sour taste	NAS Non-traceable Author Statement more info	PubMed
involved_in sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of sodium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of sodium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of sodium channel complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: amiloride-sensitive sodium channel subunit beta

Names: amiloride-sensitive sodium channel subunit beta 1; epithelial Na(+) channel subunit beta; epithelial sodium channel beta-2 subunit; epithelial sodium channel beta-3 subunit; mutant sodium channel epithelial 1 beta subunit; nasal epithelial sodium channel beta subunit; nonvoltage-gated sodium channel 1 subunit beta; sodium channel epithelial 1 beta subunit; sodium channel, non-voltage-gated 1, beta subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011908.2 RefSeqGene

Range

29073..108065

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000336.3 → NP_000327.2 amiloride-sensitive sodium channel subunit beta isoform 1

See identical proteins and their annotated locations for NP_000327.2

Status: REVIEWED

Source sequence(s)

AU105979, BC036352, L36593

Consensus CDS

CCDS10609.1

UniProtKB/Swiss-Prot

C5HTZ2, O60891, P51168, Q96KG2, Q9UJ32, Q9UMU5

UniProtKB/TrEMBL

A5X2V0, B2R812

Related

ENSP00000345751.2, ENST00000343070.7

Conserved Domains (1) summary

TIGR00859
Location:21 → 623

ENaC; sodium channel transporter
NM_001410900.1 → NP_001397829.1 amiloride-sensitive sodium channel subunit beta isoform 2

Status: REVIEWED

Source sequence(s)

AC008915, AC130452

Consensus CDS

CCDS92127.1

UniProtKB/TrEMBL

H3BQ95

Related

ENSP00000455673.1, ENST00000568085.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

23278231..23381294

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017023525.2 → XP_016879014.1 amiloride-sensitive sodium channel subunit beta isoform X1

UniProtKB/TrEMBL

A5X2V0
XM_011545913.3 → XP_011544215.1 amiloride-sensitive sodium channel subunit beta isoform X2

UniProtKB/TrEMBL

A5X2V0

Related

ENSP00000302874.5, ENST00000307331.9

Conserved Domains (2) summary

TIGR00859
Location:32 → 634

ENaC; sodium channel transporter

TIGR00867
Location:40 → 551

deg-1; degenerin
XM_011545914.2 → XP_011544216.1 amiloride-sensitive sodium channel subunit beta isoform X3

UniProtKB/TrEMBL

A5X2V0

Conserved Domains (2) summary

TIGR00859
Location:27 → 629

ENaC; sodium channel transporter

TIGR00867
Location:35 → 546

deg-1; degenerin

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

23554125..23657344

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054313591.1 → XP_054169566.1 amiloride-sensitive sodium channel subunit beta isoform X1
XM_054313592.1 → XP_054169567.1 amiloride-sensitive sodium channel subunit beta isoform X2
XM_054313593.1 → XP_054169568.1 amiloride-sensitive sodium channel subunit beta isoform X3