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
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
<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
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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