KEGG   Homo sapiens (human): 6338
Entry
6338              CDS       T01001                                 

Gene name
SCNN1B, BESC1, ENaCb, ENaCbeta, LIDLS1, SCNEB
Definition
(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  Hyperkalemic distal renal tubular acidosis (RTA type 4)
H00892  Bronchiectasis with or without elevated sweat chloride
H01633  High blood pressure
H02310  Renal tubular acidosis
Drug target
Amiloride (DG00275): D00649 D07447
Triamterene: D00386
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
Vega: OTTHUMG00000131608
Pharos: P51168(Tclin)
UniProt: P51168 B2R812
LinkDB
Structure
PDB: 
6BQN

Position
16p12.2
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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