Homo sapiens (human): 6340
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Entry
6340 CDS
T01001
Symbol
SCNN1G, BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, PHA1B3, SCNEG
Name
(RefSeq) sodium channel epithelial 1 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
<JP/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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
ASC
Motif
Other DBs
NCBI-GeneID:
6340
NCBI-ProteinID:
NP_001030
OMIM:
600761
HGNC:
10602
Ensembl:
ENSG00000166828
UniProt:
P51170
A5X2V1
Structure
PDB
PDBj
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All DBs
Position
16:23182745..23216883
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AA seq
649 aa
AA seq
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MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFT
LTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQE
TREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKR
KVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQ
VPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLT
ESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQTKMVEKCGCAQYSQPLPPAA
NYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWL
LPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMS
CSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL
NT seq
1950 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
