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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_000901 Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. ORF Sequence $856.95
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RefSeq Version NM_000901.4, 260656018
Length 5915 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.
Product mineralocorticoid receptor isoform 1
Comment

Summary: This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer 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_000892.2
CDS 364..3318
Misc Feature(1)277..279
Misc Feature(2)364..2169
Misc Feature(3)364..2169
Misc Feature(4)2158..2391
Misc Feature(5)order(2170..2172,2179..2181,2221..2223,2230..2232,
Misc Feature(6)order(2200..2208,2224..2229,2233..2238,2245..2250,
Misc Feature(7)order(2275..2283,2287..2289,2296..2301,2311..2316,
Misc Feature(8)2368..2559
Misc Feature(9)2560..3315
Misc Feature(10)2572..3315
Misc Feature(11)order(2668..2673,2677..2682,2689..2691,2782..2784,
Misc Feature(12)order(2695..2697,2704..2709,2716..2718,2746..2748,
Misc Feature(13)2707..2718
Misc Feature(14)order(3040..3042,3049..3051,3061..3063,3097..3108,
Exon (1)1..361
Gene:NR3C2
Gene Synonym:MCR; MLR; MR; NR3C2VIT
Exon (2)362..2120
Gene:NR3C2
Gene Synonym:MCR; MLR; MR; NR3C2VIT
Exon (3)2121..2260
Gene:NR3C2
Gene Synonym:MCR; MLR; MR; NR3C2VIT
Exon (4)2261..2377
Gene:NR3C2
Gene Synonym:MCR; MLR; MR; NR3C2VIT
Exon (5)2378..2728
Gene:NR3C2
Gene Synonym:MCR; MLR; MR; NR3C2VIT
Exon (6)2729..2873
Gene:NR3C2
Gene Synonym:MCR; MLR; MR; NR3C2VIT
Exon (7)2874..3004
Gene:NR3C2
Gene Synonym:MCR; MLR; MR; NR3C2VIT
Exon (8)3005..3162
Gene:NR3C2
Gene Synonym:MCR; MLR; MR; NR3C2VIT
Exon (9)3163..5898
Gene:NR3C2
Gene Synonym:MCR; MLR; MR; NR3C2VIT
Translation METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNST QGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYE QQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAV VKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPN VENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSP ANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVP SPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSD SSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGF DGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSAR DQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPS KICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRL QKCLQAGMNLGARKSKKLGKLKGIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVN TALVPQLSTISRALTPSPVMVLENIEPEIVYAGYDSSKPDTAENLLSTLNRLAGKQMIQV VKWAKVLPGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKM HQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYI KELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAML VEIISDQLPKVESGNAKPLYFHRK
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Position Chain Variation Link
complement(33)-dbSNP:
complement(33)-g, cdbSNP:72646915
complement(34)-g, adbSNP:72646914
complement(63)-g, cdbSNP:61760023
complement(82)-g, cdbSNP:112500486
complement(89)-g, adbSNP:61760022
complement(212)-g, cdbSNP:190427520
complement(222)-g, cdbSNP:184722093
complement(356)-t, adbSNP:61760021
complement(362)-dbSNP:
complement(362)-g, cdbSNP:2070951
complement(433)-g, adbSNP:138833427
complement(446)-t, g, cdbSNP:72645689
complement(466)-g, cdbSNP:141860706
complement(491)-g, adbSNP:61760013
complement(503)-t, cdbSNP:199942132
complement(525)-g, adbSNP:61760012
complement(531)-t, adbSNP:61760011
complement(535)-t, adbSNP:61760010
complement(538)-t, adbSNP:61760009
complement(618)-t, cdbSNP:148089711
complement(647)-t, cdbSNP:182568851
complement(728)-t, cdbSNP:147024247
complement(743)-t, cdbSNP:141462272
complement(768)-g, cdbSNP:138893620
complement(812)-g, adbSNP:13306591
complement(839)-g, adbSNP:200698285
complement(849)-t, cdbSNP:138971877
complement(851)-g, cdbSNP:121912568
complement(876)-g, adbSNP:146027424
complement(897)-g, adbSNP:201996429
complement(900)-g, adbSNP:145148455
complement(901)-g, adbSNP:5522
complement(918)-g, adbSNP:72645688
complement(938)-t, gdbSNP:201155740
complement(1006)-t, adbSNP:72645687
complement(1094)-t, cdbSNP:72645686
complement(1102)-t, adbSNP:149902988
complement(1130)-t, cdbSNP:72645685
complement(1155)-t, cdbSNP:192001093
complement(1163)-g, cdbSNP:146671580
complement(1185)-g, cdbSNP:186788495
complement(1195)-g, adbSNP:201919373
complement(1257)-g, adbSNP:138498293
complement(1341)-t, cdbSNP:143126546
complement(1433)-t, gdbSNP:201740390
complement(1455)-t, cdbSNP:61729559
complement(1513)-t, cdbSNP:146386941
complement(1568)-g, adbSNP:143847779
complement(1619)-g, adbSNP:72645628
complement(1632)-g, adbSNP:200381347
complement(1668)-t, cdbSNP:140710365
complement(1671)-t, adbSNP:121912570
complement(1694)-c, adbSNP:5523
complement(1730)-g, adbSNP:12509135
complement(1731)-t, cdbSNP:72645627
complement(1743)-t, adbSNP:149589666
complement(1761)-t, cdbSNP:5524
complement(1800)-g, adbSNP:147461426
complement(1860)-g, adbSNP:5525
complement(1872)-g, adbSNP:138960832
complement(1939)-t, adbSNP:199724634
complement(1972)-t, g, cdbSNP:121912562
complement(1973)-g, adbSNP:5526
complement(1977)-t, cdbSNP:146153919
complement(1978)-c, adbSNP:72645626
complement(2014)-g, cdbSNP:72645625
complement(2023)-t, adbSNP:148037179
complement(2024)-g, adbSNP:5527
complement(2052)-t, cdbSNP:5528
complement(2055)-g, adbSNP:188602841
complement(2068)-t, cdbSNP:61759976
complement(2076)-g, adbSNP:5529
complement(2086)-g, adbSNP:140796742
complement(2136)-dbSNP:
complement(2136)-t, cdbSNP:55914141
complement(2154)-g, adbSNP:34905604
complement(2184)-c, adbSNP:62332038
complement(2248)-t, gdbSNP:182277096
complement(2260)-g, adbSNP:121912566
complement(2298)-dbSNP:
complement(2298)-c, adbSNP:121912564
complement(2316)-t, cdbSNP:72653855
complement(2337)-g, adbSNP:201232560
complement(2380)-dbSNP:
complement(2380)-t, cdbSNP:121912571
complement(2387)-g, cdbSNP:121912572
complement(2445)-g, adbSNP:202017956
complement(2489)-g, adbSNP:139938639
complement(2502)-g, adbSNP:151096115
complement(2517)-t, cdbSNP:200085890
complement(2541)-t, cdbSNP:144234574
complement(2568)-t, cdbSNP:148543224
complement(2603)-g, adbSNP:62332228
complement(2649)-g, adbSNP:147478460
complement(2674)-g, adbSNP:201310587
complement(2675)-t, cdbSNP:143057152
complement(2690)-g, adbSNP:121912565
complement(2790)-dbSNP:
complement(2790)-t, cdbSNP:145670736
complement(2792)-t, cdbSNP:41511344
complement(2816)-t, cdbSNP:121912573
complement(2840)-t, adbSNP:13306592
complement(2940)-dbSNP:
complement(2940)-g, adbSNP:140705228
complement(2941)-t, cdbSNP:147398624
complement(3060)-dbSNP:
complement(3060)-g, adbSNP:199889429
complement(3098)-t, cdbSNP:149541750
complement(3134)-t, cdbSNP:121912563
complement(3171)-dbSNP:
complement(3171)-g, adbSNP:112365566
complement(3202)-t, cdbSNP:121912569
complement(3278)-g, adbSNP:121912574
complement(3299)-t, cdbSNP:121912567
complement(3307)-g, adbSNP:138068105
complement(3311)-t, cdbSNP:183046347
complement(3336)-g, cdbSNP:192823416
complement(3355..3356)-, gdbSNP:35832836
complement(3404)-t, cdbSNP:5530
complement(3541)-t, cdbSNP:187968743
complement(3643)-t, cdbSNP:201950852
complement(3646)-c, adbSNP:139673876
complement(3663)-g, adbSNP:183012834
complement(3702)-t, gdbSNP:72648711
complement(3730)-g, adbSNP:17024360
complement(3774..3775)-, tdbSNP:72648710
complement(3785..3790)-attat, tattat, adbSNP:63748994
complement(3796)-, tdbSNP:10708334
complement(3802)-t, cdbSNP:72648709
complement(3833)-c, adbSNP:77646785
complement(4026)-g, cdbSNP:5531
complement(4057..4058)-, atttdbSNP:72648708
complement(4073)-c, adbSNP:5532
complement(4122)-c, adbSNP:72648707
complement(4208)-c, adbSNP:72648706
complement(4216)-c, adbSNP:35586342
complement(4316)-t, adbSNP:35396139
complement(4350)-t, cdbSNP:61763141
complement(4354)-t, cdbSNP:72648705
complement(4369)-g, adbSNP:72648704
complement(4439)-g, adbSNP:114071155
complement(4483)-t, cdbSNP:5533
complement(4527)-t, cdbSNP:118144639
complement(4596)-t, cdbSNP:61763140
complement(4609)-t, cdbSNP:61763139
complement(4651)-g, adbSNP:190695140
complement(4670)-t, cdbSNP:186795361
complement(4703..4704)-, agdbSNP:61763138
complement(4724)-t, adbSNP:61763137
complement(4728)-g, adbSNP:5534
complement(4760)-t, cdbSNP:1062595
complement(4770)-g, adbSNP:181282602
complement(4771)-t, cdbSNP:61763136
complement(4826)-g, adbSNP:5535
complement(4862..4863)-, tctadbSNP:140789678
complement(4895..4896)-, attdbSNP:72648703
complement(4987..4990)-, aacadbSNP:72647602
complement(4989..4992)-, caaadbSNP:146592484
complement(5047..5048)-, agatdbSNP:199601327
complement(5120)-g, adbSNP:5536
complement(5157..5158)-, aatdbSNP:72647601
complement(5158..5161)-, taatdbSNP:145719983
complement(5161..5163)-, aatdbSNP:200474868
complement(5161)-, taatdbSNP:66815369
complement(5338)-t, cdbSNP:1062596
complement(5383)-t, gdbSNP:72647600
complement(5390)-t, gdbSNP:138287185
complement(5406)-t, cdbSNP:145711262
complement(5494..5497)-, ttgtdbSNP:72647599
complement(5563..5564)-, cdbSNP:34293064
complement(5589)-g, adbSNP:140644495
complement(5706)-t, cdbSNP:5537
complement(5728)-g, adbSNP:186309103
complement(5789)-g, adbSNP:2871
Gene SymbolNR3C2
Gene SynonymMCR; MLR; MR; NR3C2VIT
Chromosome4
Locus Map4q31.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000901 Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. Full Length $2661.75
ORF Sequence $856.95
NM_001166104 Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 2, mRNA. Full Length $2503.80
ORF Sequence $755.16
Title The ubiquitous mineralocorticoid receptor: clinical implications .
Author Hawkins,U.A., Gomez-Sanchez,E.P., Gomez-Sanchez,C.M. and Gomez-Sanchez,C.E.
Journal Curr. Hypertens. Rep. 14 (6), 573-580 (2012)
Title Genetic variants of the renin-angiotensin-aldosterone system and reverse remodeling after cardiac resynchronization therapy .
Author De Maria,R., Landolina,M., Gasparini,M., Schmitz,B., Campolo,J., Parolini,M., Sanzo,A., Galimberti,P., Bianchi,M., Brand,S.M., Parodi,O. and Lunati,M.
Journal J. Card. Fail. 18 (10), 762-768 (2012)
Title Different polymorphisms of the mineralocorticoid receptor gene are associated with either glucocorticoid or mineralocorticoid levels in hypertension .
Author Sun,B., Chamarthi,B., Williams,J.S., Krug,A.W., Lasky-Su,J., Raby,B.A., Hopkins,P.N., Jeunemaitre,X., Ferri,C. and Williams,G.H.
Journal J. Clin. Endocrinol. Metab. 97 (9), E1825-E1829 (2012)
Title Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women .
Author Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V., Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C., Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F., Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M., Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A. and Borecki,I.B.
Journal PLoS Genet. 8 (5), E1002695 (2012)
Title A common and functional mineralocorticoid receptor haplotype enhances optimism and protects against depression in females .
Author Klok,M.D., Giltay,E.J., Van der Does,A.J., Geleijnse,J.M., Antypa,N., Penninx,B.W., de Geus,E.J., Willemsen,G., Boomsma,D.I., van Leeuwen,N., Zitman,F.G., de Kloet,E.R. and DeRijk,R.H.
Journal Transl Psychiatry 1, E62 (2011)
Title Identification of a splice variant of the rat and human mineralocorticoid receptor genes .
Author Bloem,L.J., Guo,C. and Pratt,J.H.
Journal J. Steroid Biochem. Mol. Biol. 55 (2), 159-162 (1995)
Title Overexpression and characterization of the human mineralocorticoid receptor .
Author Alnemri,E.S., Maksymowych,A.B., Robertson,N.M. and Litwack,G.
Journal J. Biol. Chem. 266 (27), 18072-18081 (1991)
Title Regional chromosomal assignment of the human mineralocorticoid receptor gene to 4q31.1 .
Author Morrison,N., Harrap,S.B., Arriza,J.L., Boyd,E. and Connor,J.M.
Journal Hum. Genet. 85 (1), 130-132 (1990)
Title The human mineralocorticoid receptor gene (MLR) is located on chromosome 4 at q31.2 .
Author Fan,Y.S., Eddy,R.L., Byers,M.G., Haley,L.L., Henry,W.M., Nowak,N.J. and Shows,T.B.
Journal Cytogenet. Cell Genet. 52 (1-2), 83-84 (1989)
Title Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor .
Author Arriza,J.L., Weinberger,C., Cerelli,G., Glaser,T.M., Handelin,B.L., Housman,D.E. and Evans,R.M.
Journal Science 237 (4812), 268-275 (1987)

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