• Gene id: 6338

Gene Summary

• Gene Symbol: SCNN1B   Gene   UCSC   Ensembl
• Aliases: BESC1, ENaCb, ENaCbeta, LIDLS1, SCNEB
• Gene name: sodium channel epithelial 1 subunit beta
• Alternate names: amiloride-sensitive sodium channel subunit beta, amiloride-sensitive sodium channel subunit beta 1, beta-ENaC, beta-NaCH, epithelial Na(+) channel subunit beta, epithelial sodium channel beta-2 subunit, epithelial sodium channel beta-3 subunit, mutant sodium cha,
• Gene location: 16p12.2 (23278230: 23381294)     Exons: 17     NC_000016.10
• Gene summary(Entrez): 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,

Protein Summary

• Protein general information: P51168  
  • Name: Amiloride sensitive sodium channel subunit beta (Beta NaCH) (Epithelial Na(+) channel subunit beta) (Beta ENaC) (ENaCB) (Nonvoltage gated sodium channel 1 subunit beta) (SCNEB)
  • Length: 640  
  • Mass: 72659
  • Tissue specificity: Detected in placenta, lung and kidney (PubMed
• Sequence:

  MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTLLFAALVCWQWGIFIRTYL
  SWEVSVSLSVGFKTMDFPAVTICNASPFKYSKIKHLLKDLDELMEAVLERILAPELSHANATRNLNFSIWNHTPL
  VLIDERNPHHPMVLDLFGDNHNGLTSSSASEKICNAHGCKMAMRLCSLNRTQCTFRNFTSATQALTEWYILQATN
  IFAQVPQQELVEMSYPGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMTEKALPSANPGTEFGLKLILD
  IGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGIYAMSGTETSIGVLVDKLQRMGEPYSPCTVNGSEVPVQNFYS
  DYNTTYSIQACLRSCFQDHMIRNCNCGHYLYPLPRGEKYCNNRDFPDWAHCYSDLQMSVAQRETCIGMCKESCND
  TQYKMTISMADWPSEASEDWIFHVLSQERDQSTNITLSRKGIVKLNIYFQEFNYRTIEESAANNIVWLLSNLGGQ
  FGFWMGGSVLCLIEFGEIIIDFVWITIIKLVALAKSLRQRRAQASYAGPPPTVAELVEAHTNFGFQPDTAPRSPN
  TGPYPSEQALPIPGTPPPNYDSLRLQPLDVIESDSEGDAI

• Structural information:
  • Interpro: IPR001873  IPR004724  IPR020903  
  • Prosite: PS01206
  • PDB: 6BQN
  • PDBsum: 6BQN
  • STRING: ENSP00000345751
• Other Databases: GeneCards:  SCNN1B  Malacards:  SCNN1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0015280	ligand-gated sodium channel activity	IDA	contributes to
GO:0055078	sodium ion homeostasis	IDA	biological process
GO:0050891	multicellular organismal water homeostasis	IDA	biological process
GO:0034706	sodium channel complex	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0015280	ligand-gated sodium channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0050909	sensory perception of taste	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015280	ligand-gated sodium channel activity	TAS	molecular function
GO:0006814	sodium ion transport	TAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034706	sodium channel complex	IEA	cellular component
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0015280	ligand-gated sodium channel activity	IEA	molecular function
GO:0050699	WW domain binding	IEA	molecular function
GO:0050699	WW domain binding	IPI	molecular function
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04742	Taste transduction
hsa04960	Aldosterone-regulated sodium reabsorption

Diseases

Associated diseases	References
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
High blood pressure	KEGG:H01633
Bronchiectasis with or without elevated sweat chloride	KEGG:H00892
Liddle syndrome	KEGG:H00242
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
High blood pressure	KEGG:H01633
Bronchiectasis with or without elevated sweat chloride	KEGG:H00892
Liddle syndrome	KEGG:H00242
Pseudohypoaldosteronism	PMID:8589714
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq