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Homo sapiens sodium channel, non-voltage-gated 1, gamma subunit (SCNN1G), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001039 Homo sapiens sodium channel, non-voltage-gated 1, gamma subunit (SCNN1G), mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15

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RefSeq Version NM_001039.3, 148839327
Length 3516 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens sodium channel, non-voltage-gated 1, gamma subunit (SCNN1G), mRNA.
Product amiloride-sensitive sodium channel subunit gamma
Comment

Summary: Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009].

RefSeq NP_001030.2
CDS 140..2089
Misc Feature(1)32..34
Misc Feature(2)32..34
Misc Feature(3)155..157
Misc Feature(4)155..157
Misc Feature(5)161..163
Misc Feature(6)167..169
Misc Feature(7)173..175
Misc Feature(8)176..178
Misc Feature(9)209..2029
Misc Feature(10)215..217
Misc Feature(11)305..376
Misc Feature(12)1709..1804
Misc Feature(13)2003..2005
Exon (1)1..95
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (2)96..456
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (3)457..757
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (4)758..948
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (5)949..1052
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (6)1053..1216
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (7)1217..1315
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (8)1316..1433
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (9)1434..1512
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (10)1513..1570
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (11)1571..1632
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (12)1633..1708
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Exon (13)1709..3499
Gene:SCNN1G
Gene Synonym:BESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Translation MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFT LTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQE TREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKR KVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQ VPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLT ESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQTKMVEKCGCAQYSQPLPPAA NYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWL LPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMS CSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL
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Position Chain Variation Link
102+dbSNP:
102+a, cdbSNP:190977146
109+a, gdbSNP:5732
196+a, cdbSNP:113174697
284+g, tdbSNP:5733
302+a, cdbSNP:144697586
335+c, tdbSNP:148502526
436+c, tdbSNP:142767823
467+dbSNP:
467+a, gdbSNP:147276737
473+c, tdbSNP:148236872
526+c, tdbSNP:5734
538+a, gdbSNP:200985912
540+c, tdbSNP:148776783
574+c, tdbSNP:62639702
585+c, gdbSNP:140901058
609+a, gdbSNP:181420353
613+c, tdbSNP:5735
616+a, gdbSNP:145602271
644+a, gdbSNP:148827401
685+c, tdbSNP:201748986
686+a, gdbSNP:5736
688+c, g, tdbSNP:5737
695+a, tdbSNP:13306664
728+a, gdbSNP:5738
755+c, tdbSNP:145131420
775+dbSNP:
775+c, tdbSNP:5739
776+a, gdbSNP:141591871
793+c, gdbSNP:150911038
815+a, gdbSNP:199888130
823+a, gdbSNP:138309350
838+c, tdbSNP:192839222
886+a, gdbSNP:199757401
915+a, cdbSNP:72646501
958+dbSNP:
958+a, gdbSNP:201341816
964+c, tdbSNP:1126943
966+a, gdbSNP:182222186
974+a, tdbSNP:147244467
978+a, gdbSNP:140859214
984+a, gdbSNP:143091865
1035+c, tdbSNP:186947558
1079+dbSNP:
1079+a, gdbSNP:147199706
1084+a, gdbSNP:200984982
1093+c, tdbSNP:183694908
1096+a, gdbSNP:148669555
1123+a, gdbSNP:12447209
1151+a, cdbSNP:202154788
1152+c, tdbSNP:141248272
1221+dbSNP:
1221+a, tdbSNP:201308208
1241+c, gdbSNP:61759918
1264+c, tdbSNP:142147113
1270+g, tdbSNP:202104927
1303+c, tdbSNP:72647518
1326+dbSNP:
1326+a, gdbSNP:202142122
1353+a, gdbSNP:200827944
1420+g, tdbSNP:151223712
1567+dbSNP:
1567+a, gdbSNP:139176301
1591+dbSNP:
1591+a, cdbSNP:72647527
1597+a, gdbSNP:72647528
1604+a, gdbSNP:72647529
1605+a, gdbSNP:200028583
1607+c, gdbSNP:72647530
1608+a, gdbSNP:202245467
1615+a, gdbSNP:146420892
1624+g, tdbSNP:190330851
1656+dbSNP:
1656+c, tdbSNP:114326911
1671+a, tdbSNP:113234492
1689+a, c, tdbSNP:144653364
1714+dbSNP:
1714+a, gdbSNP:72647541
1723+a, gdbSNP:184208116
1728+a, gdbSNP:148985177
1735+c, tdbSNP:1126944
1738+c, tdbSNP:1126945
1775+a, gdbSNP:143742457
1857+a, gdbSNP:137853342
1896+a, gdbSNP:148179456
1945+a, cdbSNP:144084513
1994+c, gdbSNP:146434247
2000+a, gdbSNP:139012605
2007+c, tdbSNP:72647542
2025+c, tdbSNP:142967227
2030+c, tdbSNP:150854967
2031+a, gdbSNP:139283096
2074+g, tdbSNP:201541961
2078+g, tdbSNP:72647543
2086+c, gdbSNP:5723
2101+a, gdbSNP:72647544
2133+g, tdbSNP:5724
2134+c, tdbSNP:72647545
2164+a, gdbSNP:5725
2248+g, tdbSNP:3026
2319+c, tdbSNP:72647546
2325+c, tdbSNP:5726
2357+a, gdbSNP:5727
2417+a, gdbSNP:56153525
2456+c, tdbSNP:193154744
2580+a, gdbSNP:146413363
2661+a, gdbSNP:5728
2695+a, tdbSNP:5729
2697+a, gdbSNP:111292541
2748+c, tdbSNP:9922851
2764+a, gdbSNP:5730
2878+c, tdbSNP:9923016
2879+c, tdbSNP:9932505
3055+a, cdbSNP:34120924
3080+c, tdbSNP:140837753
3131+c, gdbSNP:188729501
3236+a, gdbSNP:80081880
3287+a, tdbSNP:72647547
3350+a, gdbSNP:8043698
3377+a, gdbSNP:183710681
3419..3421+, agadbSNP:72647548
3458+c, tdbSNP:72647549
3459+a, gdbSNP:72647550
3494+a, cdbSNP:72647551
Gene SymbolSCNN1G
Gene SynonymBESC3; ENaCg; ENaCgamma; PHA1; SCNEG
Chromosome16
Locus Map16p12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001039 Homo sapiens sodium channel, non-voltage-gated 1, gamma subunit (SCNN1G), mRNA. In-stock $639.00 $590.00 15
Title Gain-of-function variant of the human epithelial sodium channel .
Author Chen,J., Kleyman,T.R. and Sheng,S.
Journal Am. J. Physiol. Renal Physiol. 304 (2), F207-F213 (2013)
Title Identification of extracellular domain residues required for epithelial Na+ channel activation by acidic pH .
Author Collier,D.M., Peterson,Z.J., Blokhin,I.O., Benson,C.J. and Snyder,P.M.
Journal J. Biol. Chem. 287 (49), 40907-40914 (2012)
Title Proteolytic activation of the epithelial sodium channel (ENaC) by the cysteine protease cathepsin-S .
Author Haerteis,S., Krappitz,M., Bertog,M., Krappitz,A., Baraznenok,V., Henderson,I., Lindstrom,E., Murphy,J.E., Bunnett,N.W. and Korbmacher,C.
Journal Pflugers Arch. 464 (4), 353-365 (2012)
Title Effects of rhinovirus infection on the expression and function of cystic fibrosis transmembrane conductance regulator and epithelial sodium channel in human nasal mucosa .
Author Kim,J.H., Kwon,H.J. and Jang,Y.J.
Journal Ann. Allergy Asthma Immunol. 108 (3), 182-187 (2012)
Title Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease .
Author Azad,A.K., Rauh,R., Vermeulen,F., Jaspers,M., Korbmacher,J., Boissier,B., Bassinet,L., Fichou,Y., des Georges,M., Stanke,F., De Boeck,K., Dupont,L., Balascakova,M., Hjelte,L., Lebecque,P., Radojkovic,D., Castellani,C., Schwartz,M., Stuhrmann,M., Schwarz,M., Skalicka,V., de Monestrol,I., Girodon,E., Ferec,C., Claustres,M., Tummler,B., Cassiman,J.J., Korbmacher,C. and Cuppens,H.
Journal Hum. Mutat. 30 (7), 1093-1103 (2009)
Title Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes .
Author Saxena,A., Hanukoglu,I., Saxena,D., Thompson,R.J., Gardiner,R.M. and Hanukoglu,A.
Journal J. Clin. Endocrinol. Metab. 87 (7), 3344-3350 (2002)
Title Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel .
Author Waldmann,R., Champigny,G., Bassilana,F., Voilley,N. and Lazdunski,M.
Journal J. Biol. Chem. 270 (46), 27411-27414 (1995)
Title Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome .
Author Hansson,J.H., Nelson-Williams,C., Suzuki,H., Schild,L., Shimkets,R., Lu,Y., Canessa,C., Iwasaki,T., Rossier,B. and Lifton,R.P.
Journal Nat. Genet. 11 (1), 76-82 (1995)
Title Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel .
Author Voilley,N., Bassilana,F., Mignon,C., Merscher,S., Mattei,M.G., Carle,G.F., Lazdunski,M. and Barbry,P.
Journal Genomics 28 (3), 560-565 (1995)
Title Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel .
Author McDonald,F.J., Price,M.P., Snyder,P.M. and Welsh,M.J.
Journal Am. J. Physiol. 268 (5 PT 1), C1157-C1163 (1995)


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