Mineralocorticoid receptor
Details
- Name
- Mineralocorticoid receptor
- Synonyms
- MCR
- MLR
- MR
- Nuclear receptor subfamily 3 group C member 2
- Gene Name
- NR3C2
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0001332|Mineralocorticoid receptor METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNST QGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYE QQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAI VKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPN AENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSP ANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVP SPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSD SSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGF DGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSAR DQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPS KICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRL QKCLQAGMNLGARKSKKLGKLKGIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVN TALVPQLSTISRALTPSPVMVLENIEPEIVYAGYDSSKPDTAENLLSTLNRLAGKQMIQV VKWAKVLPGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKM HQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYI KELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAML VEIISDQLPKVESGNAKPLYFHRK
- Number of residues
- 984
- Molecular Weight
- 107066.575
- Theoretical pI
- 7.42
- GO Classification
- Functionssequence-specific DNA binding / steroid binding / steroid hormone receptor activity / transcription factor activity, sequence-specific DNA binding / zinc ion bindingProcessesgene expression / signal transduction / transcription initiation from RNA polymerase II promoterComponentsendoplasmic reticulum membrane / nucleoplasm / receptor complex
- General Function
- Zinc ion binding
- Specific Function
- Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels.
- Pfam Domain Function
- Transmembrane Regions
- Not Available
- Cellular Location
- Cytoplasm
- Gene sequence
>lcl|BSEQ0020476|Mineralocorticoid receptor (NR3C2) ATGGAGACCAAAGGCTACCACAGTCTCCCTGAAGGTCTAGATATGGAAAGACGGTGGGGT CAAGTTTCTCAGGCTGTGGAGCGTTCTTCCCTGGGACCTACAGAGAGGACCGATGAGAAT AACTACATGGAGATTGTCAACGTAAGCTGTGTTTCCGGTGCTATTCCAAACAACAGTACT CAAGGAAGCAGCAAAGAAAAACAAGAACTACTCCCTTGCCTTCAGCAAGACAATAATCGG CCTGGGATTTTAACATCTGATATTAAAACTGAGCTGGAATCTAAGGAACTTTCAGCAACT GTAGCTGAGTCCATGGGTTTATATATGGATTCTGTAAGAGATGCTGACTATTCCTATGAG CAGCAGAACCAACAAGGAAGCATGAGTCCAGCTAAGATTTATCAGAATGTTGAACAGCTG GTGAAATTTTACAAAGGAAATGGCCATCGTCCTTCCACTCTAAGTTGTGTGAACACGCCC TTGAGATCATTTATGTCTGACTCTGGGAGCTCCGTGAATGGTGGCGTCATGCGCGCCGTT GTTAAAAGCCCTATCATGTGTCATGAGAAAAGCCCGTCTGTTTGCAGCCCTCTGAACATG ACATCTTCGGTTTGCAGCCCTGCTGGAATCAACTCTGTGTCCTCCACCACAGCCAGCTTT GGCAGTTTTCCAGTGCACAGCCCAATCACCCAGGGAACTCCTCTGACATGCTCCCCTAAT GTTGAAAATCGAGGCTCCAGGTCGCACAGCCCTGCACATGCTAGCAATGTGGGCTCTCCT CTCTCAAGTCCGTTAAGTAGCATGAAATCCTCAATTTCCAGCCCTCCAAGTCACTGCAGT GTAAAATCTCCAGTCTCCAGTCCCAATAATGTCACTCTGAGATCCTCTGTGTCTAGCCCT GCAAATATTAACAACTCAAGGTGCTCTGTTTCCAGCCCTTCGAACACTAATAACAGATCC ACGCTTTCCAGTCCGGCAGCCAGTACTGTGGGATCTATCTGTAGCCCTGTAAACAATGCC TTCAGCTACACTGCTTCTGGCACCTCTGCTGGATCCAGTACATTGCGGGATGTGGTTCCC AGTCCAGACACGCAGGAGAAAGGTGCTCAAGAGGTCCCTTTTCCTAAGACTGAGGAAGTA GAGAGTGCCATCTCAAATGGTGTGACTGGCCAGCTTAATATTGTCCAGTACATAAAACCA GAACCAGATGGAGCTTTTAGCAGCTCATGTCTAGGAGGAAATAGCAAAATAAATTCGGAT TCTTCATTCTCAGTACCAATAAAGCAAGAATCAACCAAGCATTCATGTTCAGGCACCTCT TTTAAAGGGAATCCAACAGTAAACCCGTTTCCATTTATGGATGGCTCGTATTTTTCCTTT ATGGATGATAAAGACTATTATTCCCTATCAGGAATTTTAGGACCACCTGTGCCCGGCTTT GATGGTAACTGTGAAGGCAGCGGATTCCCAGTGGGTATTAAACAAGAACCAGATGATGGG AGCTATTACCCAGAGGCCAGCATCCCTTCCTCTGCTATTGTTGGGGTGAATTCAGGTGGA CAGTCCTTCCACTACAGGATTGGTGCTCAAGGTACAATATCTTTATCACGATCGGCTAGA GACCAATCTTTCCAACACCTGAGTTCCTTTCCTCCTGTCAATACTTTAGTGGAGTCATGG AAATCACACGGCGACCTGTCGTCTAGAAGAAGTGATGGGTATCCGGTCTTAGAATACATT CCAGAAAATGTATCAAGCTCTACTTTACGAAGTGTTTCTACTGGATCTTCAAGACCTTCA AAAATATGTTTGGTGTGTGGGGATGAGGCTTCAGGATGCCATTATGGGGTAGTCACCTGT GGCAGCTGCAAAGTTTTCTTCAAAAGAGCAGTGGAAGGGCAACACAACTATTTATGTGCT GGAAGAAATGATTGCATCATTGATAAGATTCGACGAAAGAATTGTCCTGCTTGCAGACTT CAGAAATGTCTTCAAGCTGGAATGAATTTAGGAGCACGAAAGTCAAAGAAGTTGGGAAAG TTAAAAGGGATTCACGAGGAGCAGCCACAGCAGCAGCAGCCCCCACCCCCACCCCCACCC CCGCAAAGCCCAGAGGAAGGGACAACGTACATCGCTCCTGCAAAAGAACCCTCGGTCAAC ACAGCACTGGTTCCTCAGCTCTCCACAATCTCACGAGCGCTCACACCTTCCCCCGTTATG GTCCTTGAAAACATTGAACCTGAAATTGTATATGCAGGCTATGACAGCTCAAAACCAGAT ACAGCCGAAAATCTGCTCTCCACGCTCAACCGCTTAGCAGGCAAACAGATGATCCAAGTC GTGAAGTGGGCAAAGGTACTTCCAGGATTTAAAAACTTGCCTCTTGAGGACCAAATTACC CTAATCCAGTATTCTTGGATGTGTCTATCATCATTTGCCTTGAGCTGGAGATCGTACAAA CATACGAACAGCCAATTTCTCTATTTTGCACCAGACCTAGTCTTTAATGAAGAGAAGATG CATCAGTCTGCCATGTATGAACTATGCCAGGGGATGCACCAAATCAGCCTTCAGTTCGTT CGACTGCAGCTCACCTTTGAAGAATACACCATCATGAAAGTTTTGCTGCTACTAAGCACA ATTCCAAAGGATGGCCTCAAAAGCCAGGCTGCATTTGAAGAAATGAGGACAAATTACATC AAAGAACTGAGGAAGATGGTAACTAAGTGTCCCAACAATTCTGGGCAGAGCTGGCAGAGG TTCTACCAACTGACCAAGCTGCTGGACTCCATGCATGACCTGGTGAGCGACCTGCTGGAA TTCTGCTTCTACACCTTCCGAGAGTCCCATGCGCTGAAGGTAGAGTTCCCCGCAATGCTG GTGGAGATCATCAGCGACCAGCTGCCCAAGGTGGAGTCGGGGAACGCCAAGCCGCTCTAC TTCCACCGGAAGTGA
- Chromosome Location
- 4
- Locus
- 4q31.1
- External Identifiers
Resource Link UniProtKB ID P08235 UniProtKB Entry Name MCR_HUMAN GenBank Protein ID 307166 GenBank Gene ID M16801 GenAtlas ID NR3C2 HGNC ID HGNC:7979 - General References
- Arriza JL, Weinberger C, Cerelli G, Glaser TM, Handelin BL, Housman DE, Evans RM: Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science. 1987 Jul 17;237(4812):268-75. [Article]
- Zennaro MC, Souque A, Viengchareun S, Poisson E, Lombes M: A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action. Mol Endocrinol. 2001 Sep;15(9):1586-98. [Article]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [Article]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
- Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP: Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet. 1998 Jul;19(3):279-81. [Article]
- Alnemri ES, Maksymowych AB, Robertson NM, Litwack G: Overexpression and characterization of the human mineralocorticoid receptor. J Biol Chem. 1991 Sep 25;266(27):18072-81. [Article]
- Hanukoglu A: Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991 Nov;73(5):936-44. [Article]
- Bloem LJ, Guo C, Pratt JH: Identification of a splice variant of the rat and human mineralocorticoid receptor genes. J Steroid Biochem Mol Biol. 1995 Nov;55(2):159-62. [Article]
- Zennaro MC, Farman N, Bonvalet JP, Lombes M: Tissue-specific expression of alpha and beta messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states. J Clin Endocrinol Metab. 1997 May;82(5):1345-52. [Article]
- Bruner KL, Derfoul A, Robertson NM, Guerriero G, Fernandes-Alnemri T, Alnemri ES, Litwack G: The unliganded mineralocorticoid receptor is associated with heat shock proteins 70 and 90 and the immunophilin FKBP-52. Recept Signal Transduct. 1997;7(2):85-98. [Article]
- Lupo B, Mesnier D, Auzou G: Cysteines 849 and 942 of human mineralocorticoid receptor are crucial for steroid binding. Biochemistry. 1998 Sep 1;37(35):12153-9. [Article]
- Hellal-Levy C, Fagart J, Souque A, Rafestin-Oblin ME: Mechanistic aspects of mineralocorticoid receptor activation. Kidney Int. 2000 Apr;57(4):1250-5. [Article]
- Hellal-Levy C, Fagart J, Souque A, Wurtz JM, Moras D, Rafestin-Oblin ME: Crucial role of the H11-H12 loop in stabilizing the active conformation of the human mineralocorticoid receptor. Mol Endocrinol. 2000 Aug;14(8):1210-21. [Article]
- Odermatt A, Arnold P, Frey FJ: The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2. J Biol Chem. 2001 Jul 27;276(30):28484-92. Epub 2001 May 11. [Article]
- Shibata S, Nagase M, Yoshida S, Kawarazaki W, Kurihara H, Tanaka H, Miyoshi J, Takai Y, Fujita T: Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease. Nat Med. 2008 Dec;14(12):1370-6. doi: 10.1038/nm.1879. Epub 2008 Nov 23. [Article]
- Bledsoe RK, Madauss KP, Holt JA, Apolito CJ, Lambert MH, Pearce KH, Stanley TB, Stewart EL, Trump RP, Willson TM, Williams SP: A ligand-mediated hydrogen bond network required for the activation of the mineralocorticoid receptor. J Biol Chem. 2005 Sep 2;280(35):31283-93. Epub 2005 Jun 20. [Article]
- Li Y, Suino K, Daugherty J, Xu HE: Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptor. Mol Cell. 2005 Aug 5;19(3):367-80. [Article]
- Fagart J, Huyet J, Pinon GM, Rochel M, Mayer C, Rafestin-Oblin ME: Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension. Nat Struct Mol Biol. 2005 Jun;12(6):554-5. Epub 2005 May 22. [Article]
- Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet. 1999 Jul;22(3):239-47. [Article]
- Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K: A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2000 Dec;85(12):4690-4. [Article]
- Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP: Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science. 2000 Jul 7;289(5476):119-23. [Article]
- Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, Shibasaki T: Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum Genet. 2003 Jan;112(1):91-7. Epub 2002 Oct 25. [Article]
- Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, Salomon R, Abadie V, Di Battista E, Naselli A, Racine A, Bosio M, Caprio M, Poulet-Young V, Chabrolle JP, Niaudet P, De Gennes C, Lecornec MH, Poisson E, Fusco AM, Loli P, Lombes M, Zennaro MC: Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J Clin Endocrinol Metab. 2003 Jun;88(6):2508-17. [Article]
- Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grotzinger J, Sippell WG, Fejes-Toth G, Krone N: Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2006 Nov;91(11):4552-61. Epub 2006 Sep 5. [Article]
- Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [Article]
- Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC: Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007 Jan;28(1):33-40. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB00687 Fludrocortisone approved, investigational yes agonist Details DB00700 Eplerenone approved yes antagonist Details DB01134 Desoxycorticosterone pivalate experimental, vet_approved yes agonist Details DB00421 Spironolactone approved yes antagonist Details DB04630 Aldosterone experimental, investigational unknown agonist Details DB04652 Corticosterone experimental yes Details DB01023 Felodipine approved, investigational unknown antagonist Details DB00393 Nimodipine approved, investigational unknown antagonist Details DB01395 Drospirenone approved yes antagonist Details DB00396 Progesterone approved, vet_approved yes antagonistagonist Details DB00588 Fluticasone propionate approved unknown antagonist Details DB02901 Stanolone illicit, investigational unknown Details DB02998 Metribolone experimental unknown Details DB00624 Testosterone approved, investigational unknown ligand Details DB13943 Testosterone cypionate approved unknown Details DB13944 Testosterone enanthate approved unknown Details DB13951 Stanolone acetate experimental unknown Details DB06780 Desoxycorticosterone acetate approved unknown agonist Details DB13867 Fluticasone approved, experimental unknown antagonist Details DB08906 Fluticasone furoate approved unknown antagonist Details DB01013 Clobetasol propionate approved unknown agonist Details DB16165 Finerenone approved, investigational yes antagonist Details DB15114 Vamorolone approved, investigational unknown antagonist Details