• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001126107 Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

Related Services

RefSeq Version NM_001126107.1, 186910316
Length 5579 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 2, mRNA.
Product solute carrier family 12 member 3 isoform 2
Comment

Summary: This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a protein (isoform 2) that is 1 aa shorter than isoform 1.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_001119579.1
CDS 30..3119
Misc Feature(1)186..383
Misc Feature(2)186..383
Misc Feature(3)204..3113
Misc Feature(4)432..494
Misc Feature(5)501..563
Misc Feature(6)681..743
Misc Feature(7)810..872
Misc Feature(8)885..947
Misc Feature(9)1044..1106
Misc Feature(10)1158..1220
Misc Feature(11)1383..1445
Misc Feature(12)1560..1622
Misc Feature(13)1629..1691
Misc Feature(14)1758..1820
Misc Feature(15)2007..2069
Exon (1)1..311
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (2)312..455
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (3)456..531
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (4)532..627
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (5)628..767
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (6)768..878
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (7)879..990
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (8)991..1121
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (9)1122..1206
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (10)1207..1361
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (11)1362..1469
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (12)1470..1593
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (13)1594..1695
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (14)1696..1851
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (15)1852..1951
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (16)1952..2063
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (17)2064..2204
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (18)2205..2311
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (19)2312..2394
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (20)2395..2472
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (21)2473..2574
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (22)2575..2686
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (23)2687..2773
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (24)2774..2909
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (25)2910..2977
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Exon (26)2978..5564
Gene:SLC12A3
Gene Synonym:NCC; NCCT; TSC
Translation MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNT IDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKEGRHLHALAFDSRPSHEMTDGLVEGE AGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVTV TSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAFANAVGVAMHTVGFAET VRDLLQEYGAPIVDPINDIRIIGVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANYL VGTLIPPSEDKASKGFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPSATGILAGANIS GDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLAC SYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIFGATLSSALACLVSAAKVFQ CLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSYA LINFSCFHASITNSPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLLL YVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPNFRPALVDF VGTFTRNLSLMICGHVLIGPHKQRMPELQLIANGHTKWLNKRKIKAFYSDVIAEDLRRGV QILMQAAGLGRMKPNILVVGFKKNWQSAHPATVEDYIGILHDAFDFNYGVCVMRMREGLN VSKMMQAHINPVFDPAEDGKEASARGARPSVSGALDPKALVKEEQATTIFQSEQGKKTID IYWLFDDGGLTLLIPYLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHE VHILPDINQNPRAEHTKRFEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVK SLRQVRLNEIVLDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQ ENVLTFYCQ
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Position Chain Variation Link
25+dbSNP:
25+c, tdbSNP:200585631
55+c, tdbSNP:111313053
65+c, tdbSNP:117987946
66+c, gdbSNP:147200024
110+c, gdbSNP:201850644
122+c, tdbSNP:34055681
162+c, tdbSNP:58840696
276+c, tdbSNP:201255508
278+g, tdbSNP:76750525
281+c, tdbSNP:150708727
327+dbSNP:
327+a, cdbSNP:200783338
333+c, tdbSNP:35005216
341+c, tdbSNP:56186010
343..344+, cdbSNP:143902154
347+a, cdbSNP:190296497
360+c, gdbSNP:200219778
374+a, gdbSNP:149890322
389+c, gdbSNP:146632606
392+a, gdbSNP:2304479
417+a, gdbSNP:199745548
434+c, tdbSNP:142561570
435+a, gdbSNP:143774019
448+c, gdbSNP:146854174
459+dbSNP:
459+c, tdbSNP:148945966
476+g, tdbSNP:143714318
482+c, tdbSNP:141342016
487+c, tdbSNP:148074092
508+a, gdbSNP:201190064
514+c, tdbSNP:267607050
530+c, tdbSNP:202087190
531+a, gdbSNP:201650578
560+dbSNP:
560+a, gdbSNP:140931462
565+a, cdbSNP:146158333
596+a, cdbSNP:150202255
651+dbSNP:
651+c, tdbSNP:28936388
683+c, tdbSNP:138184423
696+a, gdbSNP:201727970
710+c, tdbSNP:143757080
711+a, gdbSNP:147184383
720+a, gdbSNP:201318038
746+a, gdbSNP:138839882
749+c, tdbSNP:149259406
750+g, tdbSNP:144493396
772+dbSNP:
772+a, gdbSNP:35762591
785+c, tdbSNP:150890628
800+c, tdbSNP:111578437
807+c, tdbSNP:201124663
817+c, gdbSNP:1529927
827+a, gdbSNP:201871800
851+c, tdbSNP:140167332
854+a, gdbSNP:201460625
876+a, cdbSNP:200086762
900+dbSNP:
900+a, gdbSNP:143916526
920+c, tdbSNP:78870559
954+a, gdbSNP:146834675
964+c, tdbSNP:140551719
987+c, tdbSNP:150046661
991+dbSNP:
991+c, tdbSNP:142679083
992+a, gdbSNP:149172580
1028+a, gdbSNP:146318329
1037+c, tdbSNP:201340564
1049+c, tdbSNP:2229209
1050+a, gdbSNP:142233440
1060+c, tdbSNP:199958831
1072+c, tdbSNP:121909383
1103+c, gdbSNP:181865675
1171+dbSNP:
1171+c, tdbSNP:187885782
1172+a, gdbSNP:146169247
1173+a, gdbSNP:200902423
1202+a, c, tdbSNP:117440321
1218+dbSNP:
1218+a, gdbSNP:141253071
1222+a, g, tdbSNP:13306668
1236+a, gdbSNP:150358489
1284+a, gdbSNP:137970015
1287+c, tdbSNP:28936387
1302+a, gdbSNP:200817545
1310+c, tdbSNP:34216426
1386+dbSNP:
1386+a, gdbSNP:145929729
1394+a, gdbSNP:139817489
1399+c, tdbSNP:200364136
1412+c, tdbSNP:142199602
1416+a, gdbSNP:201945662
1418+a, cdbSNP:118121751
1420+a, cdbSNP:146392700
1421+c, tdbSNP:5801
1426+c, tdbSNP:142912565
1431+a, gdbSNP:151095762
1432+c, tdbSNP:139743444
1438+c, tdbSNP:201341355
1479+dbSNP:
1479+a, gdbSNP:201804135
1488+c, tdbSNP:201278704
1503+a, gdbSNP:200890260
1520+c, tdbSNP:144733604
1546+a, gdbSNP:147864812
1565+c, tdbSNP:146805986
1566+a, gdbSNP:113885847
1587+a, gdbSNP:147046379
1604+dbSNP:
1604+c, tdbSNP:145608606
1626+a, cdbSNP:148909644
1674+a, gdbSNP:143534332
1690+c, tdbSNP:148038173
1722+dbSNP:
1722+a, tdbSNP:142414514
1732+c, tdbSNP:79351185
1733+a, gdbSNP:138625602
1735+c, tdbSNP:201130736
1749+a, gdbSNP:141515400
1758+a, gdbSNP:139329616
1768+c, tdbSNP:146191537
1789+c, tdbSNP:121909382
1799+c, tdbSNP:139395849
1800+a, gdbSNP:149644636
1801+c, tdbSNP:150006445
1809+a, gdbSNP:201432183
1821+c, tdbSNP:199883951
1822+c, tdbSNP:144318189
1828+c, tdbSNP:112767154
1891+dbSNP:
1891+a, gdbSNP:61746763
1894+c, tdbSNP:121909385
1910+a, c, gdbSNP:5802
1915+g, tdbSNP:121909384
1950+c, tdbSNP:200697179
1951+a, gdbSNP:147901432
1954+dbSNP:
1954+c, tdbSNP:140012781
1972+c, tdbSNP:145337602
1973+a, gdbSNP:151041573
1982+a, cdbSNP:200091201
1990+a, g, tdbSNP:121909380
1993+c, tdbSNP:140363569
1994+a, gdbSNP:150378634
2006+c, tdbSNP:201519016
2054+c, tdbSNP:35070204
2074+dbSNP:
2074+a, gdbSNP:141003816
2091+c, tdbSNP:144820554
2109+a, gdbSNP:36031476
2168+c, tdbSNP:5803
2182+a, gdbSNP:143427711
2186+c, tdbSNP:147984554
2198+c, tdbSNP:201038360
2208+dbSNP:
2208+a, gdbSNP:36049418
2216+c, tdbSNP:150692587
2237..2238+, cdbSNP:35142325
2247+a, gdbSNP:138977195
2270+a, gdbSNP:150633177
2299+c, tdbSNP:61730207
2302+c, gdbSNP:202152707
2389+dbSNP:
2389+c, tdbSNP:147517227
2423+dbSNP:
2423+c, tdbSNP:139943829
2424+a, gdbSNP:184770928
2468+c, tdbSNP:145461134
2487+dbSNP:
2487+c, tdbSNP:201300295
2512+c, gdbSNP:144206890
2523+a, tdbSNP:146845953
2539+a, gdbSNP:111450683
2567+c, tdbSNP:142297310
2570+a, tdbSNP:200636784
2599+dbSNP:
2599+a, tdbSNP:185927948
2602+c, tdbSNP:121909379
2612+a, gdbSNP:141144873
2614+a, gdbSNP:8060046
2616+a, gdbSNP:191194366
2631+a, gdbSNP:200253241
2635+c, tdbSNP:143347099
2638+a, gdbSNP:267607051
2648+a, cdbSNP:146730493
2651+c, tdbSNP:5804
2662+a, gdbSNP:150325058
2746+dbSNP:
2746+a, tdbSNP:138007665
2758+a, gdbSNP:199713227
2759+a, cdbSNP:186431477
2764+a, gdbSNP:11643718
2767+c, gdbSNP:143046588
2808+dbSNP:
2808+c, tdbSNP:12708965
2809+a, gdbSNP:201639116
2819+c, tdbSNP:200716656
2827+a, gdbSNP:111544360
2846+c, tdbSNP:13306666
2853+c, tdbSNP:201721269
2854+a, gdbSNP:56259558
2856+c, tdbSNP:56125220
2903+a, cdbSNP:202082198
2917+dbSNP:
2917+a, gdbSNP:202114767
2956+a, gdbSNP:186979818
2983+dbSNP:
2983+c, tdbSNP:201696394
2991+a, gdbSNP:34803727
3007+a, gdbSNP:199849117
3016+c, tdbSNP:141867836
3017+a, gdbSNP:35082264
3040+a, cdbSNP:201058248
3047+c, tdbSNP:201969639
3077+a, gdbSNP:2289113
3095+c, tdbSNP:149767532
3102+a, cdbSNP:80254235
3137+c, gdbSNP:2289112
3259+a, gdbSNP:146093386
3324+c, tdbSNP:5805
3345+a, gdbSNP:113076156
3381+c, tdbSNP:113182958
3523+a, gdbSNP:37031
3622..3623+, atdbSNP:201710815
3634+, tdbSNP:11347677
3635+a, tdbSNP:11861555
3695+c, gdbSNP:139828223
3716+c, tdbSNP:5806
3725+a, c, gdbSNP:191424171
3727+a, tdbSNP:184322368
3766+c, gdbSNP:5807
3783+c, gdbSNP:5808
3871+c, tdbSNP:8049491
3894+a, gdbSNP:5809
3955+a, gdbSNP:149793899
4050+a, gdbSNP:37030
4086+c, tdbSNP:181114799
4094+a, gdbSNP:56079121
4223+a, cdbSNP:112336060
4273+c, tdbSNP:112747386
4280+a, gdbSNP:16963782
4323+c, tdbSNP:116537640
4343+c, gdbSNP:117384068
4348+c, tdbSNP:145722916
4360+c, tdbSNP:187054775
4375+c, tdbSNP:148921061
4420+a, cdbSNP:9927820
4507+a, gdbSNP:59716930
4620+c, tdbSNP:56284499
4631+a, gdbSNP:142981886
4643+a, gdbSNP:3812964
4684..4685+, tggaggdbSNP:200034400
4766+c, tdbSNP:115285739
4768+g, tdbSNP:116128729
4793+a, gdbSNP:3812963
4970+c, tdbSNP:37029
5005+g, tdbSNP:189854181
5097+g, tdbSNP:147734763
5187+c, gdbSNP:142540870
5414+c, tdbSNP:181993451
5428..5429+, adbSNP:200767583
5429+, adbSNP:34229715
5439+a, tdbSNP:186173400
5489+, adbSNP:34334334
5551+c, tdbSNP:115344087
Gene SymbolSLC12A3
Gene SynonymNCC; NCCT; TSC
Chromosome16
Locus Map16q13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000339 Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. On-demand $1699.00 25
NM_001126107 Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 2, mRNA. On-demand $1699.00 25
NM_001126108 Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 3, mRNA. On-demand $1699.00 25
Title Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation .
Author Tseng,M.H., Yang,S.S., Hsu,Y.J., Fang,Y.W., Wu,C.J., Tsai,J.D., Hwang,D.Y. and Lin,S.H.
Journal J. Clin. Endocrinol. Metab. 97 (8), E1478-E1482 (2012)
Title [Genetic study for diabetic microvascular complications--recent advances and future perspectives] .
Author Maeda,S.
Journal Nippon Rinsho 70 (SUPPL 5), 219-225 (2012)
Title Lack of an association between TSC gene Arg904Gln polymorphisms and essential hypertension risk based on a meta-analysis .
Author Zhang,F., Yang,Y., Hu,D., Lei,H. and Wang,Y.
Journal Genet. Mol. Res. 11 (3), 3511-3517 (2012)
Title High-frequency variant p.T60M in NaCl cotransporter and blood pressure variability in Han Chinese .
Author Shao,L., Lang,Y., Wang,Y., Gao,Y., Zhang,W., Niu,H., Liu,S. and Chen,N.
Journal Am. J. Nephrol. 35 (6), 515-519 (2012)
Title The thiazide-sensitive NaCl cotransporter is targeted for chaperone-dependent endoplasmic reticulum-associated degradation .
Author Needham,P.G., Mikoluk,K., Dhakarwal,P., Khadem,S., Snyder,A.C., Subramanya,A.R. and Brodsky,J.L.
Journal J. Biol. Chem. 286 (51), 43611-43621 (2011)
Title Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: evidence for abnormal thiazide-sensitive NaCl cotransport .
Author Abuladze,N., Yanagawa,N., Lee,I., Jo,O.D., Newman,D., Hwang,J., Uyemura,K., Pushkin,A., Modlin,R.L. and Kurtz,I.
Journal J. Am. Soc. Nephrol. 9 (5), 819-826 (1998)
Title Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome .
Author Takeuchi,K., Kure,S., Kato,T., Taniyama,Y., Takahashi,N., Ikeda,Y., Abe,T., Narisawa,K., Muramatsu,Y. and Abe,K.
Journal J. Clin. Endocrinol. Metab. 81 (12), 4496-4499 (1996)
Title Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3) .
Author Mastroianni,N., De Fusco,M., Zollo,M., Arrigo,G., Zuffardi,O., Bettinelli,A., Ballabio,A. and Casari,G.
Journal Genomics 35 (3), 486-493 (1996)
Title Identification of a cDNA encoding a thiazide-sensitive sodium-chloride cotransporter from the human and its mRNA expression in various tissues .
Author Chang,H., Tashiro,K., Hirai,M., Ikeda,K., Kurokawa,K. and Fujita,T.
Journal Biochem. Biophys. Res. Commun. 223 (2), 324-328 (1996)
Title Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter .
Author Simon,D.B., Nelson-Williams,C., Bia,M.J., Ellison,D., Karet,F.E., Molina,A.M., Vaara,I., Iwata,F., Cushner,H.M., Koolen,M., Gainza,F.J., Gitleman,H.J. and Lifton,R.P.
Journal Nat. Genet. 12 (1), 24-30 (1996)


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