SCNN1B
Epithelial sodium channel subunit beta
Also known as: ENaCbeta, SCNNB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51168
- Gene
- SCNN1B
- Ensembl
- ENSG00000168447
- Chromosome
- 16
- Canonical length
- 640 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters
OverviewNCBI 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, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
Canonical amino-acid sequenceUniProt
640 residues, UniProt reviewed canonical sequence.
>P51168|SCNN1B
1 MHVKKYLLKG LHRLQKGPGY TYKELLVWYC DNTNTHGPKR IICEGPKKKA MWFLLTLLFA
61 ALVCWQWGIF IRTYLSWEVS VSLSVGFKTM DFPAVTICNA SPFKYSKIKH LLKDLDELME
121 AVLERILAPE LSHANATRNL NFSIWNHTPL VLIDERNPHH PMVLDLFGDN HNGLTSSSAS
181 EKICNAHGCK MAMRLCSLNR TQCTFRNFTS ATQALTEWYI LQATNIFAQV PQQELVEMSY
241 PGEQMILACL FGAEPCNYRN FTSIFYPHYG NCYIFNWGMT EKALPSANPG TEFGLKLILD
301 IGQEDYVPFL ASTAGVRLML HEQRSYPFIR DEGIYAMSGT ETSIGVLVDK LQRMGEPYSP
361 CTVNGSEVPV QNFYSDYNTT YSIQACLRSC FQDHMIRNCN CGHYLYPLPR GEKYCNNRDF
421 PDWAHCYSDL QMSVAQRETC IGMCKESCND TQYKMTISMA DWPSEASEDW IFHVLSQERD
481 QSTNITLSRK GIVKLNIYFQ EFNYRTIEES AANNIVWLLS NLGGQFGFWM GGSVLCLIEF
541 GEIIIDFVWI TIIKLVALAK SLRQRRAQAS YAGPPPTVAE LVEAHTNFGF QPDTAPRSPN
601 TGPYPSEQAL PIPGTPPPNY DSLRLQPLDV IESDSEGDAILocalizationUniProt · AlphaFold · HPA
Whether an antibody against SCNN1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 89 nTPM
Expression across tissuesHPA
Tissue
- colon: 89 nTPM
- esophagus: 81 nTPM
- vagina: 56 nTPM
- cervix: 46 nTPM
- salivary gland: 37 nTPM
- skin: 35 nTPM
Single-cell type
- esophageal apical cells: 990 nCPM
- respiratory ionocytes: 719 nCPM
- salivary duct cells: 429 nCPM
- salivary ionocytes: 415 nCPM
- colonocytes: 252 nCPM
- conjunctival goblet cells: 223 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 2.1 nTPM
- pons: 0.2 nTPM
- cerebral cortex: 0.1 nTPM
- choroid plexus: 0.1 nTPM
- hippocampal formation: 0.1 nTPM
- medulla oblongata: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SCNN1B.
Disease | AllUniProt
Conditions SCNN1B is implicated in, by any mechanism.
- Pseudohypoaldosteronism 1B2, autosomal recessive (PHA1B2) MIM:620125
- Liddle syndrome 1 (LIDLS1) MIM:177200
- Bronchiectasis with or without elevated sweat chloride 1 (BESC1) MIM:211400
Disease | GeneticClinVar
47 pathogenic / likely-pathogenic of 464 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Liddle syndrome 1
- Pseudohypoaldosteronism, type IB2, autosomal recessive
- Bronchiectasis with or without elevated sweat chloride 1
- SCNN1B-related disorder
- Pseudohypoaldosteronism, type IB1, autosomal recessive
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.8
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.21
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aldosterone metabolic process
- artery smooth muscle contraction
- cellular response to acidic pH
- cellular response to aldosterone
- cellular response to vasopressin
- epithelial fluid transport
- erythrocyte homeostasis
- gene expression
- intracellular sodium ion homeostasis
- leukocyte activation involved in inflammatory response
- lung alveolus development
- mucus secretion
- multicellular organism growth
- multicellular organismal-level water homeostasis
- neutrophil activation involved in immune response
- neutrophil-mediated killing of bacterium
- potassium ion homeostasis
- regulation of blood pressure
- renal system process
- response to food
- response to xenobiotic stimulus
- sensory perception of salty taste
- sensory perception of sour taste
- sodium ion homeostasis
- sodium ion import across plasma membrane
- sodium ion transmembrane transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SCNN1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SCNN1B as an antibody target. Whether an autoantibody or antibody against SCNN1B could matter depends on whether native SCNN1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SCNN1B is annotated at the cell surface, where native SCNN1B is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SCNN1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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