KEGG   Homo sapiens (human): 6340
Entry
6340              CDS       T01001                                 
Symbol
SCNN1G, BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, PHA1B3, SCNEG
Name
(RefSeq) epithelial sodium channel subunit gamma
  KO
K04827  amiloride-sensitive sodium channel subunit gamma
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<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09155 Excretory system
   04960 Aldosterone-regulated sodium reabsorption
    6340 (SCNN1G)
  09157 Sensory system
   04742 Taste transduction
    6340 (SCNN1G)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6340 (SCNN1G)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  Epithelial sodium channel (ENaC)
   6340 (SCNN1G)
SSDB
Motif
Pfam: ASC
Other DBs
NCBI-GeneID: 6340
NCBI-ProteinID: NP_001030
OMIM: 600761
HGNC: 10602
Ensembl: ENSP00000300061.2
UniProt: P51170 A5X2V1
Structure
Position
16:23182745..23216883
AA seq 649 aa
MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFT
LTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQE
TREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKR
KVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQ
VPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLT
ESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQTKMVEKCGCAQYSQPLPPAA
NYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWL
LPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMS
CSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL
NT seq 1950 nt   +upstreamnt  +downstreamnt
atggcacccggagagaagatcaaagccaaaatcaagaagaatctgcccgtgacgggccct
caggcgccgaccattaaagagctgatgcggtggtactgcctcaacaccaacacccatggc
tgtcgccgcatcgtggtgtcccgcggccgtctgcgccgcctcctctggatcgggttcaca
ctgactgccgtggccctcatcctctggcagtgcgccctcctcgtcttctccttctatact
gtctcagtttccatcaaagtccacttccggaagctggattttcctgcagtcaccatctgc
aacatcaacccctacaagtacagcaccgttcgccaccttctagctgacttggaacaggag
accagagaggccctgaagtccctgtatggctttccagagtcccggaagcgccgagaggcg
gagtcctggaactccgtctcagagggaaagcagcctagattctcccaccggattccgctg
ctgatctttgatcaggatgagaagggcaaggccagggacttcttcacagggaggaagcgg
aaagtcggcggtagcatcattcacaaggcttcaaatgtcatgcacatcgagtccaagcaa
gtggtgggattccaactgtgctcaaatgacacctccgactgtgccacctacaccttcagc
tcgggaatcaatgccattcaggagtggtataagctacactacatgaacatcatggcacag
gtgcctctggagaagaaaatcaacatgagctattctgctgaggagctgctggtgacctgc
ttctttgatggagtgtcctgtgatgccaggaatttcacgcttttccaccacccgatgcat
gggaattgctatactttcaacaacagagaaaatgagaccattctcagcacctccatgggg
ggcagcgaatatgggctgcaagtcattttgtacataaacgaagaggaatacaacccattc
ctcgtgtcctccactggagctaaggtgatcatccatcggcaggatgagtatcccttcgtc
gaagatgtgggaacagagattgagacagcaatggtcacctctataggaatgcacctgaca
gagtccttcaagctgagtgagccctacagtcagtgcacggaggacgggagtgacgtgcca
atcaggaacatctacaacgctgcctactcgctccagatctgccttcattcatgcttccag
acaaagatggtggagaaatgtgggtgtgcccagtacagccagcctctacctcctgcagcc
aactactgcaactaccagcagcaccccaactggatgtattgttactaccaactgcatcga
gcctttgtccaggaagagctgggctgccagtctgtgtgcaaggaagcctgcagctttaaa
gagtggacactaaccacaagcctggcacaatggccatctgtggtttcggagaagtggttg
ctgcctgttctcacttgggaccaaggccggcaagtaaacaaaaagctcaacaagacagac
ttggccaaactcttgatattctacaaagacctgaaccagagatccatcatggagagccca
gccaacagtattgagatgcttctgtccaacttcggtggccagctgggcctgtggatgagc
tgctctgttgtctgcgtcatcgagatcatcgaggtcttcttcattgacttcttctctatc
attgcccgccgccagtggcagaaagccaaggagtggtgggcctggaaacaggctccccca
tgtccagaagctccccgtagcccacagggccaggacaatccagccctggatatagacgat
gacctacccactttcaactctgctttgcacctgcctccagccctaggaacccaagtgccc
ggcacaccgccccccaaatacaataccttgcgcttggagagggccttttccaaccagctc
acagatacccagatgctggatgagctctga

  All links  
Disease (4)   
   OMIM (4)   
Gene (29)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (11)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (13)   
   RefSeq(nuc) (1)   
   GenBank (6)   
   EMBL (6)   
3D Structure (5)   
   PDB (5)   
Protein domain (1)   
   Pfam (1)   
All databases (56)   

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