SCNN1B sodium channel, nonvoltage-gated 1, beta [Homo sapiens (human)]
| Gene Symbol | SCNN1B |
| Entrez Gene ID | 6338 |
| Full Name | sodium channel, nonvoltage-gated 1, beta |
| Synonyms | BESC1, ENaCb, ENaCbeta, SCNEB |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
16 16p12.2-p12.1 |
| 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]. |
| Disorder | MIM: 600760 Liddle syndrome, 177200 (3); Pseudohypoaldosteronism, type I, 264350 |
| mRNA | NM_000336, 124301195 |
| Protein | NP_000327, 124301196 |
| Product | amiloride-sensitive sodium channel subunit beta |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | SCNN1B | NP_000327.2 |
| Pan troglodytes (chimpanzee) | SCNN1B | XP_001161485.1 |
| Canis lupus familiaris (dog) | SCNN1B | XP_547092.2 |
| Bos taurus (cattle) | SCNN1B | NP_001091544.1 |
| Mus musculus (house mouse) | Scnn1b | NP_035455.1 |
| Rattus norvegicus (Norway rat) | Scnn1b | NP_036780.1 |
| Gallus gallus (chicken) | SCNN1B | XP_425247.2 |
| ID | Name | Evidence |
| GO:0001666 | response to hypoxia | IEA |
| GO:0002028 | regulation of sodium ion transport | IEA |
| GO:0006811 | ion transport | IEA |
| GO:0006814 | sodium ion transport | TAS |
| GO:0007588 | excretion | TAS |
| GO:0035313 | wound healing, spreading of epidermal cells | IEA |
| GO:0050896 | response to stimulus | IEA |
| GO:0050909 | sensory perception of taste | IEA |
Component
| ID | Name | Evidence |
| GO:0005624 | membrane fraction | IEA |
| GO:0005886 | plasma membrane | IEA |
| GO:0009897 | external side of plasma membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
| GO:0016324 | apical plasma membrane | IEA |
| GO:0034706 | sodium channel complex | IEA |
Function
| ID | Name | Evidence |
| GO:0005216 | ion channel activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0015280 | ligand-gated sodium channel activity | IEA |
| GO:0050699 | WW domain binding | IPI |
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