Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.
| RefSeq Version | NM_000901.4, 260656018 |
| Length | 5915 bp |
| Structure | linear |
| Update Date | 03-APR-2011 |
| 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]. 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 | Exon (1) | 1..361 | Exon (2) | 1..361 | Exon (3) | 362..2120 | Exon (4) | 2121..2260 | Exon (5) | 2261..2377 | Exon (6) | 2378..2728 | Exon (7) | 2729..2873 | Exon (8) | 2874..3004 | Exon (9) | 3005..3162 | Exon (10) | 3163..5898 |
| 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) | - | g, c | dbSNP:72646915 |
| complement(34) | - | g, a | dbSNP:72646914 |
| complement(63) | - | g, c | dbSNP:61760023 |
| complement(82) | - | g, c | dbSNP:112500486 |
| complement(89) | - | g, a | dbSNP:61760022 |
| complement(356) | - | t, a | dbSNP:61760021 |
| 362 | + | c, g | dbSNP:2070951 |
| complement(446) | - | t, c | dbSNP:72645689 |
| complement(491) | - | g, a | dbSNP:61760013 |
| complement(525) | - | g, a | dbSNP:61760012 |
| complement(531) | - | t, a | dbSNP:61760011 |
| complement(535) | - | t, a | dbSNP:61760010 |
| complement(538) | - | t, a | dbSNP:61760009 |
| 812 | + | a, g | dbSNP:13306591 |
| 901 | + | a, g | dbSNP:5522 |
| complement(918) | - | g, a | dbSNP:72645688 |
| complement(1006) | - | t, a | dbSNP:72645687 |
| complement(1094) | - | t, c | dbSNP:72645686 |
| complement(1130) | - | t, c | dbSNP:72645685 |
| complement(1455) | - | t, c | dbSNP:61729559 |
| complement(1619) | - | g, a | dbSNP:72645628 |
| 1694 | + | a, c | dbSNP:5523 |
| complement(1730) | - | g, a | dbSNP:12509135 |
| complement(1731) | - | t, c | dbSNP:72645627 |
| 1761 | + | c, t | dbSNP:5524 |
| complement(1860) | - | g, a | dbSNP:5525 |
| 1973 | + | a, g | dbSNP:5526 |
| complement(1978) | - | c, a | dbSNP:72645626 |
| complement(2014) | - | g, c | dbSNP:72645625 |
| 2024 | + | a, g | dbSNP:5527 |
| 2052 | + | c, t | dbSNP:5528 |
| complement(2068) | - | t, c | dbSNP:61759976 |
| complement(2076) | - | g, a | dbSNP:5529 |
| 2136 | + | c, t | dbSNP:55914141 |
| 2154 | + | a, g | dbSNP:34905604 |
| complement(2184) | - | c, a | dbSNP:62332038 |
| complement(2316) | - | t, c | dbSNP:72653855 |
| complement(2603) | - | g, a | dbSNP:62332228 |
| complement(2792) | - | g, a | dbSNP:41511344 |
| complement(2820) | - | t, g | dbSNP:74571068 |
| 2840 | + | a, t | dbSNP:13306592 |
| complement(3171) | - | g, a | dbSNP:112365566 |
| complement(3291) | - | t, g | dbSNP:114793600 |
| complement(3353..3354) | - | , g | dbSNP:35832836 |
| 3404 | + | c, t | dbSNP:5530 |
| complement(3702) | - | t, g | dbSNP:72648711 |
| complement(3730) | - | g, a | dbSNP:17024360 |
| complement(3768..3769) | - | , t | dbSNP:72648710 |
| complement(3785..3790) | - | attat, tattat, a | dbSNP:63748994 |
| complement(3790) | - | , t | dbSNP:10708334 |
| complement(3796) | - | , t | dbSNP:11292717 |
| complement(3802) | - | t, c | dbSNP:72648709 |
| complement(3833) | - | c, a | dbSNP:77646785 |
| 4026 | + | c, g | dbSNP:5531 |
| complement(4057..4058) | - | , attt | dbSNP:72648708 |
| 4073 | + | a, c | dbSNP:5532 |
| complement(4122) | - | c, a | dbSNP:72648707 |
| complement(4208) | - | c, a | dbSNP:72648706 |
| complement(4216) | - | c, a | dbSNP:35586342 |
| complement(4316) | - | t, a | dbSNP:35396139 |
| complement(4350) | - | t, c | dbSNP:61763141 |
| complement(4354) | - | t, c | dbSNP:72648705 |
| complement(4369) | - | g, a | dbSNP:72648704 |
| complement(4439) | - | g, a | dbSNP:114071155 |
| 4483 | + | c, t | dbSNP:5533 |
| complement(4527) | - | t, c | dbSNP:118144639 |
| complement(4596) | - | t, c | dbSNP:61763140 |
| complement(4609) | - | t, c | dbSNP:61763139 |
| complement(4651) | - | g, a | dbSNP:117414393 |
| complement(4703..4704) | - | , ag | dbSNP:61763138 |
| complement(4724) | - | t, a | dbSNP:61763137 |
| 4728 | + | a, g | dbSNP:5534 |
| 4760 | + | c, t | dbSNP:1062595 |
| complement(4771) | - | t, c | dbSNP:61763136 |
| 4826 | + | a, g | dbSNP:5535 |
| complement(4895..4896) | - | , att | dbSNP:72648703 |
| complement(4983..4986) | - | , aaca | dbSNP:72647602 |
| complement(4986) | - | g, a | dbSNP:77345919 |
| 5120 | + | a, g | dbSNP:5536 |
| complement(5157..5158) | - | , aat | dbSNP:72647601 |
| complement(5157) | - | , taat | dbSNP:66815369 |
| 5338 | + | c, t | dbSNP:1062596 |
| complement(5383) | - | t, g | dbSNP:72647600 |
| complement(5494..5497) | - | , ttgt | dbSNP:72647599 |
| complement(5561..5562) | - | , c | dbSNP:34293064 |
| 5706 | + | c, t | dbSNP:5537 |
| 5789 | + | a, g | dbSNP:2871 |
| Gene Symbol | NR3C2 |
| Gene Synonym | FLJ41052; MCR; MGC133092; MLR; MR; NR3C2VIT |
| Chromosome | 4 |
| Locus Map | 4q31.1 |
| All Transcripts | NM_000901 , NM_001166104 |
| Title | Common functional mineralocorticoid receptor polymorphisms modulate the cortisol awakening response: Interaction with SSRIs . |
| Author | Klok,M.D., Vreeburg,S.A., Penninx,B.W., Zitman,F.G., de Kloet,E.R. and Derijk,R.H. |
| Journal | Psychoneuroendocrinology 36 (4), 484-494 (2011) |
| Title | NTM and NR3C2 polymorphisms influencing intelligence: family-based association studies . |
| Author | Pan,Y., Wang,K.S. and Aragam,N. |
| Journal | Prog. Neuropsychopharmacol. Biol. Psychiatry 35 (1), 154-160 (2011) |
| Title | Mineralocorticoid receptor gene variants as determinants of HPA axis regulation and behavior . |
| Author | DeRijk,R.H., de Kloet,E.R., Zitman,F.G. and van Leeuwen,N. |
| Journal | Endocr Dev 20, 137-148 (2011) |
| Title | The functional c.-2G>C variant of the mineralocorticoid receptor modulates blood pressure, renin, and aldosterone levels . |
| Author | van Leeuwen,N., Caprio,M., Blaya,C., Fumeron,F., Sartorato,P., Ronconi,V., Giacchetti,G., Mantero,F., Fernandes-Rosa,F.L., Simian,C., Peyrard,S., Zitman,F.G., Penninx,B.W., de Kloet,E.R., Azizi,M., Jeunemaitre,X., Derijk,R.H. and Zennaro,M.C. |
| Journal | Hypertension 56 (5), 995-1002 (2010) |
| Title | Mineralocorticoid receptor, CYP11B2 mRNA expression, and atrial matrix remodelling in patients with atrial fibrillation . |
| Author | Pei,D.A., Yan,Y.Y., Li,L., Xu,Z.Y., Huang,J.Y., Wang,M., Xu,Z.M., Yao,Q., Huang,S.E., Huang,Q. and Wang,S.S. |
| Journal | Acta Cardiol 65 (5), 527-533 (2010) |
| 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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