SCNN1B - sodium channel epithelial 1 subunit beta Gene
Also Known as BESC1; ENaCb; SCNEB; LIDLS1; PHA1B2; ENaCbeta; beta-ENaC; beta-NaCH
Species: Homo sapiens
About SCNN1B
This gene has 9 transcripts (splice variants), 151 orthologues, 8 paralogues and is associated with 6 phenotypes. Biased expression in esophagus (RPKM 18.7), colon (RPKM 18.2) and 11 other tissues.
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]
SCNN1B Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000336.3 | NP_000327.2 | amiloride-sensitive sodium channel subunit beta isoform 1 |
| NM_001410900.1 | NP_001397829.1 | amiloride-sensitive sodium channel subunit beta isoform 2 |
| Molecular Function GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| enables WW domain binding |
IPI
IPI: Inferred from physical interaction
|
10642508 | GOA |
| contributes to ligand-gated sodium channel activity |
IDA
IDA: Inferred from direct assay
|
24124190 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11244092 | GOA |
| Biological Process GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| involved in cellular response to acidic pH |
IDA
IDA: Inferred from direct assay
|
16423824 | GOA |
| involved in intracellular sodium ion homeostasis |
IDA
IDA: Inferred from direct assay
|
16423824 | GOA |
| involved in multicellular organismal-level water homeostasis |
IDA
IDA: Inferred from direct assay
|
24124190 | GOA |
| involved in sodium ion homeostasis |
IDA
IDA: Inferred from direct assay
|
24124190 | GOA |
| involved in sodium ion import across plasma membrane |
IDA
IDA: Inferred from direct assay
|
16423824 | GOA |
| involved in sodium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
24124190 | GOA |
| Cellular Component GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| located in extracellular exosome |
IDA
IDA: Inferred from direct assay
|
15326289 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
24124190 | GOA |
| part of sodium channel complex |
IDA
IDA: Inferred from direct assay
|
16423824 | GOA |
| part of sodium channel complex |
IPI
IPI: Inferred from physical interaction
|
21775436 | GOA |
SCNN1B Protein Structure
ASC: Amiloride-sensitive sodium channel (29 - 541)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 640 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
amiloride-sensitive sodium channel subunit beta |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Liddle Syndrome 1 |
|
|
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
|
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
|
| Idiopathic Bronchiectasis |
|
|
| Pseudohypoaldosteronism |
|
|
| Polymyoclonus, Infantile |
|
|
| Otitis Media |
|
|
| Bronchiectasis |
|
|
| Bartter Syndrome, Type 2, Antenatal |
|
|
| Cystic Fibrosis |
|
|
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
|
| Miliaria Rubra |
|
|
| Hyperchlorhidrosis, Isolated |
|
|
| Miliaria |
|
|
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
|
| Renal Tubular Transport Disease |
|
|
| Metabolic Acidosis |
|
|
| Apparent Mineralocorticoid Excess |
|
|
| Arthrogryposis, Distal, Type 3 |
|
|
| Conn'S Syndrome |
|
|
| Hyperaldosteronism, Familial, Type I |
|
|
| Bartter Disease |
|
|
| Lipoid Congenital Adrenal Hyperplasia |
|
|
| Hypertension, Essential |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | SCNN1B | VGNC | VGNC:34356 |
| Rattus norvegicus | SCNN1B | RGD | RGD:3640 |
| Felis catus | SCNN1B | VGNC | VGNC:64930 |
| Mus musculus | SCNN1B | MGD | MGI:104696 |
| Canis familiaris | SCNN1B | VGNC | VGNC:45926 |
| Macaca mulatta | SCNN1B | VGNC | VGNC:76992 |
| Others | SCNN1B | NCBI |