| Entry |
|
| Gene name |
SCNN1B, BESC1, ENaCb, ENaCbeta, SCNEB
|
| Definition |
sodium channel, non-voltage-gated 1, beta subunit
|
| Orthology |
| amiloride-sensitive sodium channel subunit beta |
|
| Organism |
|
| Pathway |
| Taste transduction | | Aldosterone-regulated sodium reabsorption |
|
| Disease |
| Liddle syndrome | | Hyperkalemic distal renal tubular acidosis (RTA type 4) | | Bronchiectasis with or without elevated sweat chloride |
|
| Drug target |
|
| Class |
Organismal Systems; Excretory system; Aldosterone-regulated sodium reabsorption [PATH: hsa04960]
Organismal Systems; Sensory system; Taste transduction [PATH: hsa04742]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
16p12.2-p12.1
|
| AA seq |
640 aa  
MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTLLFA
ALVCWQWGIFIRTYLSWEVSVSLSVGFKTMDFPAVTICNASPFKYSKIKHLLKDLDELME
AVLERILAPELSHANATRNLNFSIWNHTPLVLIDERNPHHPMVLDLFGDNHNGLTSSSAS
EKICNAHGCKMAMRLCSLNRTQCTFRNFTSATQALTEWYILQATNIFAQVPQQELVEMSY
PGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMTEKALPSANPGTEFGLKLILD
IGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGIYAMSGTETSIGVLVDKLQRMGEPYSP
CTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQDHMIRNCNCGHYLYPLPRGEKYCNNRDF
PDWAHCYSDLQMSVAQRETCIGMCKESCNDTQYKMTISMADWPSEASEDWIFHVLSQERD
QSTNITLSRKGIVKLNIYFQEFNYRTIEESAANNIVWLLSNLGGQFGFWMGGSVLCLIEF
GEIIIDFVWITIIKLVALAKSLRQRRAQASYAGPPPTVAELVEAHTNFGFQPDTAPRSPN
TGPYPSEQALPIPGTPPPNYDSLRLQPLDVIESDSEGDAI |
| NT seq |
1923 nt  +upstreamnt +downstreamnt
atgcacgtgaagaagtacctgctgaagggcctgcatcggctgcagaagggccccggctac
acgtacaaggagctgctggtgtggtactgcgacaacaccaacacccacggccccaagcgc
atcatctgtgaggggcccaagaagaaagccatgtggttcctgctcaccctgctcttcgcc
gccctcgtctgctggcagtggggcatcttcatcaggacctacttgagctgggaggtcagc
gtctccctctccgtaggcttcaagaccatggacttccctgccgtcaccatctgcaatgct
agccccttcaagtattccaaaatcaagcatttgctgaaggacctggatgagctgatggaa
gctgtcctggagagaatcctggctcctgagctaagccatgccaatgccaccaggaacctg
aacttctccatctggaaccacacacccctggtccttattgatgaacggaacccccaccac
cccatggtccttgatctctttggagacaaccacaatggcttaacaagcagctcagcatca
gaaaagatctgtaatgcccacgggtgcaaaatggccatgagactatgtagcctcaacagg
acccagtgtaccttccggaacttcaccagtgctacccaggcattgacagagtggtacatc
ctgcaggccaccaacatctttgcacaggtgccacagcaggagctagtagagatgagctac
cccggcgagcagatgatcctggcctgcctattcggagctgagccctgcaactaccggaac
ttcacgtccatcttctaccctcactatggcaactgttacatcttcaactggggcatgaca
gagaaggcacttccttcggccaaccctggaactgaattcggcctgaagttgatcctggac
ataggccaggaagactacgtccccttccttgcgtccacggccggggtcaggctgatgctt
cacgagcagaggtcataccccttcatcagagatgagggcatctacgccatgtcggggaca
gagacgtccatcggggtactcgtggacaagcttcagcgcatgggggagccctacagcccg
tgcaccgtgaatggttctgaggtccccgtccaaaacttctacagtgactacaacacgacc
tactccatccaggcctgtcttcgctcctgcttccaagaccacatgatccgtaactgcaac
tgtggccactacctgtacccactgccccgtggggagaaatactgcaacaaccgggacttc
ccagactgggcccattgctactcagatctacagatgagcgtggcgcagagagagacctgc
attggcatgtgcaaggagtcctgcaatgacacccagtacaagatgaccatctccatggct
gactggccttctgaggcctccgaggactggattttccacgtcttgtctcaggagcgggac
caaagcaccaatatcaccctgagcaggaagggaattgtcaagctcaacatctacttccaa
gaatttaactatcgcaccattgaagaatcagcagccaataacatcgtctggctgctctcg
aatctgggtggccagtttggcttctggatggggggctctgtgctgtgcctcatcgagttt
ggggagatcatcatcgactttgtgtggatcaccatcatcaagctggtggccttggccaag
agcctacggcagcggcgagcccaagccagctacgctggcccaccgcccaccgtggccgag
ctggtggaggcccacaccaactttggcttccagcctgacacggccccccgcagccccaac
actgggccctaccccagtgagcaggccctgcccatcccaggcaccccgccccccaactat
gactccctgcgtctgcagccgctggacgtcatcgagtctgacagtgagggtgatgccatc
taa |