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Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_000336 Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA. Full Lenth $753.13
ORF Sequence $557.67


RefSeq Version NM_000336.2, 124301195
Length 2597 bp
Structure linear
Update Date 09-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.
Product amiloride-sensitive sodium channel subunit beta
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 beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq].

RefSeq NP_000327.2
CDS 177..2099
Exon (1)1..168
Exon (2)1..168
Exon (3)169..487
Exon (4)488..761
Exon (5)762..952
Exon (6)953..1056
Exon (7)1057..1220
Exon (8)1221..1328
Exon (9)1329..1446
Exon (10)1447..1522
Exon (11)1523..1580
Exon (12)1581..1642
Exon (13)1643..1718
Exon (14)1719..2597
Translation MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTLLFA ALVCWQWGIFIRTYLSWEVSVSLSVGFKTMDFPAVTICNASPFKYSKIKHLLKDLDELME AVLERILAPELSHANATRNLNFSIWNHTPLVLIDERNPHHPMVLDLFGDNHNGLTSSSAS EKICNAHGCKMAMRLCSLNRTQCTFRNFTSATQALTEWYILQATNIFAQVPQQELVEMSY PGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMTEKALPSANPGTEFGLKLILD IGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGIYAMSGTETSIGVLVDKLQRMGEPYSP CTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQDHMIRNCNCGHYLYPLPRGEKYCNNRDF PDWAHCYSDLQMSVAQRETCIGMCKESCNDTQYKMTISMADWPSEASEDWIFHVLSQERD QSTNITLSRKGIVKLNIYFQEFNYRTIEESAANNIVWLLSNLGGQFGFWMGGSVLCLIEF GEIIIDFVWITIIKLVALAKSLRQRRAQASYAGPPPTVAELVEAHTNFGFQPDTAPRSPN TGPYPSEQALPIPGTPPPNYDSLRLQPLDVIESDSEGDAI
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Position Chain Variation Link
120+a, cdbSNP:118157323
207+c, gdbSNP:72654320
266+c, tdbSNP:61741877
298+c, tdbSNP:17853594
323+a, gdbSNP:80027401
357+a, gdbSNP:72654321
421+c, gdbSNP:35731153
431+a, gdbSNP:72654322
455+c, tdbSNP:238547
951+c, tdbSNP:72654326
1055+c, tdbSNP:250563
1056+a, gdbSNP:72654338
1071+c, tdbSNP:35728064
1117+c, gdbSNP:1047229
1181+c, tdbSNP:13306633
1218+a, gdbSNP:61759921
1223+c, tdbSNP:1129412
1312+c, tdbSNP:41278184
1338+c, tdbSNP:61729788
1366+g, tdbSNP:61729789
complement(1397)-t, cdbSNP:2303156
complement(1433)-g, adbSNP:2303155
1501+g, tdbSNP:1799980
1577+c, tdbSNP:74012901
1621+c, gdbSNP:35754869
1721+c, tdbSNP:61759916
1812+a, gdbSNP:112069765
1868+a, gdbSNP:34842432
1870+a, gdbSNP:13306627
1879+a, cdbSNP:72654354
1907+c, tdbSNP:61759923
1914+a, gdbSNP:80311498
1926+a, gdbSNP:72654355
1941+a, gdbSNP:61759926
1956+a, tdbSNP:34464088
1957+c, tdbSNP:1799979
1958+a, gdbSNP:13306628
2059+a, tdbSNP:72654356
2063+c, tdbSNP:61759917
2064+a, gdbSNP:72654357
2080+a, gdbSNP:13306629
2099+a, tdbSNP:13306630
2111+c, tdbSNP:1047236
2122+c, tdbSNP:1063153
2123+a, gdbSNP:34603451
2162+a, cdbSNP:1047237
2166+a, gdbSNP:72654358
2193+a, gdbSNP:72654359
2245+a, gdbSNP:13306631
2450+c, tdbSNP:111639684
2544+g, tdbSNP:11545812
2564+c, tdbSNP:72654360
Gene SymbolSCNN1B
Gene SynonymBESC1; ENaCb; ENaCbeta; SCNEB
Chromosome16
Locus Map16p12.2-p12.1
All Transcripts NM_000336
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title SPLUNC1 expression reduces surface levels of the epithelial sodium channel (ENaC) in Xenopus laevis oocytes .
Author Rollins,B.M., Garcia-Caballero,A., Stutts,M.J. and Tarran,R.
Journal Channels (Austin) 4 (4), 255-259 (2010)
Title Inhibition of lung fluid clearance and epithelial Na+ channels by chlorine, hypochlorous acid, and chloramines .
Author Song,W., Wei,S., Zhou,Y., Lazrak,A., Liu,G., Londino,J.D., Squadrito,G.L. and Matalon,S.
Journal J. Biol. Chem. 285 (13), 9716-9728 (2010)
Title L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms .
Author Yokoyama,K., Urashima,M., Ohkido,I., Kono,T., Yoshida,T., Muramatsu,M., Niu,T. and Hosoya,T.
Journal Nephron Clin Pract 115 (4), C237-C243 (2010)
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 Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit .
Author Saxena,A., Hanukoglu,I., Strautnieks,S.S., Thompson,R.J., Gardiner,R.M. and Hanukoglu,A.
Journal Biochem. Biophys. Res. Commun. 252 (1), 208-213 (1998)
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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