KEGG   Homo sapiens (human): 6338
Entry
6338              CDS       T01001                                 
Symbol
SCNN1B, BESC1, ENaCb, ENaCbeta, LIDLS1, PHA1B2, SCNEB, beta-ENaC, beta-NaCH
Name
(RefSeq) sodium channel epithelial 1 subunit beta
  KO
K04825  amiloride-sensitive sodium channel subunit beta
Organism
hsa  Homo sapiens (human)
Pathway
hsa04742  Taste transduction
hsa04960  Aldosterone-regulated sodium reabsorption
Disease
H00242  Liddle syndrome
H00243  Renal tubular acidosis type 4
H00892  Bronchiectasis with or without elevated sweat chloride
H01633  High blood pressure
H02310  Renal tubular acidosis
Drug target
Amiloride (DG00275): D00649<US> D07447
Idrevloride: D12346
Triamterene: D00386<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09155 Excretory system
   04960 Aldosterone-regulated sodium reabsorption
    6338 (SCNN1B)
  09157 Sensory system
   04742 Taste transduction
    6338 (SCNN1B)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6338 (SCNN1B)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Epithelial sodium channel (ENaC)
   6338 (SCNN1B)
SSDB
Motif
Pfam: ASC
Other DBs
NCBI-GeneID: 6338
NCBI-ProteinID: NP_000327
OMIM: 600760
HGNC: 10600
Ensembl: ENSG00000168447
UniProt: P51168 B2R812
Structure
LinkDB
Position
16:23278231..23381294
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

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