Gene table of SCNN1B : sodium channel epithelial 1 beta subunit

Gene-disease associations table

Disease IDDisease nameSource of annotation with SCNN1BOMIM linkNumber of associated genesgenes
177200LIDDLE SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 2SCNN1B, SCNN1G
264350PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVEClinVar, OMIM, HUMSAVAR link to OMIM 3SCNN1B, SCNN1A, SCNN1G
PS211400BRONCHIECTASISClinVar, OMIM, HUMSAVAR link to OMIM 4SCNN1B, CFTR, SCNN1G, SCNN1A

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Annotation of the gene SCNN1B

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 697, together with the genes:

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Aldosterone-regulated sodium reabsorptionhsa049607.41
Taste transductionhsa047426.99
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Ion channel transportR-HSA-9837125.34
Transmembrane transport of small moleculesR-HSA-3825513.79
Stimuli-sensing channelsR-HSA-26723516.28
Associated GO terms for Molecular function
GO termGO IDGO IC
cation channel activityGO:00052614.04
ligand-gated sodium channel activityGO:00152807.54
molecular transducer activityGO:00600892.32
bindingGO:00054880.18
sodium ion transmembrane transporter activityGO:00150814.83
ligand-gated ion channel activityGO:00152764.8
transmembrane transporter activityGO:00228572.82
passive transmembrane transporter activityGO:00228033.6
metal ion transmembrane transporter activityGO:00468733.71
sodium channel activityGO:00052726.13
WW domain bindingGO:00506996.34
transporter activityGO:00052152.57
ion channel activityGO:00052163.71
cation transmembrane transporter activityGO:00083243.32
protein domain specific bindingGO:00199043.32
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
substrate-specific transporter activityGO:00228922.72
ion transmembrane transporter activityGO:00150753.04
monovalent inorganic cation transmembrane transporter activityGO:00150773.87
channel activityGO:00152673.6
gated channel activityGO:00228363.96
protein bindingGO:00055150.46
ligand-gated channel activityGO:00228344.8
substrate-specific channel activityGO:00228383.67
transmembrane receptor activityGO:00996002.53
receptor activityGO:00048722.32