KEGG   Homo sapiens (human): 6340Help
Entry
6340              CDS       T01001                                 

Gene name
SCNN1G, BESC3, ENaCg, ENaCgamma, PHA1, SCNEG
Definition
(RefSeq) sodium channel epithelial 1 gamma subunit
  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  Hyperkalemic distal renal tubular acidosis (RTA type 4)
H00892  Bronchiectasis with or without elevated sweat chloride
H01633  High blood pressure
Drug target
Amiloride (DG00275): D00649 D07447
Triamterene: D00386
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Excretory system
   04960 Aldosterone-regulated sodium reabsorption
    6340 (SCNN1G)
  Sensory system
   04742 Taste transduction
    6340 (SCNN1G)
Ion channels [BR:hsa04040]
 Epithelial and related channels
  Epithelial sodium channel (SCNN)
   6340 (SCNN1G)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ASC
Motif
Other DBs
NCBI-GeneID: 6340
NCBI-ProteinID: NP_001030
OMIM: 600761
HGNC: 10602
Ensembl: ENSG00000166828
Vega: OTTHUMG00000131609
Pharos: P51170(Tclin)
UniProt: P51170 A5X2V1
Position
16p12.2
AA seq 649 aa AA seqDB search
MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFT
LTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQE
TREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKR
KVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQ
VPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLT
ESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQTKMVEKCGCAQYSQPLPPAA
NYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWL
LPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMS
CSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL
NT seq 1950 nt NT seq  +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

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