LOCUS       NM_000901               5792 bp    mRNA    linear   PRI 17-FEB-2025
DEFINITION  Homo sapiens nuclear receptor subfamily 3 group C member 2 (NR3C2),
            transcript variant 1, mRNA.
ACCESSION   NM_000901
VERSION     NM_000901.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5792)
  AUTHORS   Savarese,G., Lindberg,F., Filippatos,G., Butler,J. and Anker,S.D.
  TITLE     Mineralocorticoid receptor overactivation: targeting systemic
            impact with non-steroidal mineralocorticoid receptor antagonists
  JOURNAL   Diabetologia 67 (2), 246-262 (2024)
   PUBMED   38127122
  REMARK    GeneRIF: Mineralocorticoid receptor overactivation: targeting
            systemic impact with non-steroidal mineralocorticoid receptor
            antagonists.
            Review article
REFERENCE   2  (bases 1 to 5792)
  AUTHORS   Manso,J., Pedron,M.C., Mondin,A., Censi,S., Pennelli,G.,
            Galuppini,F., Barollo,S., Bertazza,L., Radu,C.M., Ghini,F.,
            Simioni,P., Sabbadin,C., Ceccato,F., Armanini,D. and Mian,C.
  TITLE     First Evidence of Mineralocorticoid Receptor Gene and Protein
            Expression in Rat and Human Thyroid Tissues and Cell Cultures
  JOURNAL   Int J Mol Sci 25 (2), 754 (2024)
   PUBMED   38255827
  REMARK    GeneRIF: First Evidence of Mineralocorticoid Receptor Gene and
            Protein Expression in Rat and Human Thyroid Tissues and Cell
            Cultures.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5792)
  AUTHORS   Lin,X., Ma,X., Yi,X., Qu,C. and Li,F.
  TITLE     Effects of environmental and genetic interactions on job burnout in
            coal miners: interactions between occupational stress, coping
            styles, and NR3C2 gene polymorphisms
  JOURNAL   Front Public Health 11, 1237843 (2023)
   PUBMED   38054065
  REMARK    GeneRIF: Effects of environmental and genetic interactions on job
            burnout in coal miners: interactions between occupational stress,
            coping styles, and NR3C2 gene polymorphisms.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5792)
  AUTHORS   Fujii,W. and Shibata,S.
  TITLE     Mineralocorticoid Receptor Antagonists for Preventing Chronic
            Kidney Disease Progression: Current Evidence and Future Challenges
  JOURNAL   Int J Mol Sci 24 (9), 7719 (2023)
   PUBMED   37175424
  REMARK    GeneRIF: Mineralocorticoid Receptor Antagonists for Preventing
            Chronic Kidney Disease Progression: Current Evidence and Future
            Challenges.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5792)
  AUTHORS   Vassiliou,A.G., Vassiliadi,D.A., Keskinidou,C., Jahaj,E.,
            Botoula,E., Tsagarakis,S., Kotanidou,A. and Dimopoulou,I.
  TITLE     Down-Regulation of the Mineralocorticoid Receptor (MR) and
            Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2
            (HSD11B2) Isoenzyme in Critically Ill Patients
  JOURNAL   Clin Med Res 21 (1), 6-13 (2023)
   PUBMED   37130784
  REMARK    GeneRIF: Down-Regulation of the Mineralocorticoid Receptor (MR) and
            Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2
            (HSD11B2) Isoenzyme in Critically Ill Patients.
REFERENCE   6  (bases 1 to 5792)
  AUTHORS   Bloem,L.J., Guo,C. and Pratt,J.H.
  TITLE     Identification of a splice variant of the rat and human
            mineralocorticoid receptor genes
  JOURNAL   J Steroid Biochem Mol Biol 55 (2), 159-162 (1995)
   PUBMED   7495694
REFERENCE   7  (bases 1 to 5792)
  AUTHORS   Alnemri,E.S., Maksymowych,A.B., Robertson,N.M. and Litwack,G.
  TITLE     Overexpression and characterization of the human mineralocorticoid
            receptor
  JOURNAL   J Biol Chem 266 (27), 18072-18081 (1991)
   PUBMED   1655735
REFERENCE   8  (bases 1 to 5792)
  AUTHORS   Morrison,N., Harrap,S.B., Arriza,J.L., Boyd,E. and Connor,J.M.
  TITLE     Regional chromosomal assignment of the human mineralocorticoid
            receptor gene to 4q31.1
  JOURNAL   Hum Genet 85 (1), 130-132 (1990)
   PUBMED   2162806
REFERENCE   9  (bases 1 to 5792)
  AUTHORS   Fan,Y.S., Eddy,R.L., Byers,M.G., Haley,L.L., Henry,W.M., Nowak,N.J.
            and Shows,T.B.
  TITLE     The human mineralocorticoid receptor gene (MLR) is located on
            chromosome 4 at q31.2
  JOURNAL   Cytogenet Cell Genet 52 (1-2), 83-84 (1989)
   PUBMED   2558856
REFERENCE   10 (bases 1 to 5792)
  AUTHORS   Arriza,J.L., Weinberger,C., Cerelli,G., Glaser,T.M., Handelin,B.L.,
            Housman,D.E. and Evans,R.M.
  TITLE     Cloning of human mineralocorticoid receptor complementary DNA:
            structural and functional kinship with the glucocorticoid receptor
  JOURNAL   Science 237 (4812), 268-275 (1987)
   PUBMED   3037703
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB232659.1, AC093881.2,
            M16801.1, AC093678.4 and BQ184536.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000901.4.
            
            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 longest
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M16801.1, SRR14038192.3515272.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358102.8/ ENSP00000350815.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-430               DB232659.1         109-538
            431-1754            AC093881.2         37684-39007         c
            1755-4459           M16801.1           1714-4418
            4460-5197           AC093678.4         86218-86955         c
            5198-5792           BQ184536.1         18-612              c
FEATURES             Location/Qualifiers
     source          1..5792
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.23"
     gene            1..5792
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="nuclear receptor subfamily 3 group C member 2"
                     /db_xref="GeneID:4306"
                     /db_xref="HGNC:HGNC:7979"
                     /db_xref="MIM:600983"
     exon            1..255
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            256..2014
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     CDS             258..3212
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aldosterone receptor; mineralocorticoid receptor delta;
                     mineralocorticoid receptor 1; mineralocorticoid receptor
                     2"
                     /codon_start=1
                     /product="mineralocorticoid receptor isoform 1"
                     /protein_id="NP_000892.2"
                     /db_xref="CCDS:CCDS3772.1"
                     /db_xref="GeneID:4306"
                     /db_xref="HGNC:HGNC:7979"
                     /db_xref="MIM:600983"
                     /translation="METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYME
                     IVNVSCVSGAIPNNSTQGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVA
                     ESMGLYMDSVRDADYSYEQQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTP
                     LRSFMSDSGSSVNGGVMRAVVKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTA
                     SFGSFPVHSPITQGTPLTCSPNVENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPP
                     SHCSVKSPVSSPNNVTLRSSVSSPANINNSRCSVSSPSNTNNRSTLSSPAASTVGSIC
                     SPVNNAFSYTASGTSAGSSTLRDVVPSPDTQEKGAQEVPFPKTEEVESAISNGVTGQL
                     NIVQYIKPEPDGAFSSSCLGGNSKINSDSSFSVPIKQESTKHSCSGTSFKGNPTVNPF
                     PFMDGSYFSFMDDKDYYSLSGILGPPVPGFDGNCEGSGFPVGIKQEPDDGSYYPEASI
                     PSSAIVGVNSGGQSFHYRIGAQGTISLSRSARDQSFQHLSSFPPVNTLVESWKSHGDL
                     SSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPSKICLVCGDEASGCHYGVVTCGSCK
                     VFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRLQKCLQAGMNLGARKSKKLGKLK
                     GIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVNTALVPQLSTISRALTPSPVM
                     VLENIEPEIVYAGYDSSKPDTAENLLSTLNRLAGKQMIQVVKWAKVLPGFKNLPLEDQ
                     ITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKMHQSAMYELCQGMHQIS
                     LQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYIKELRKMVTKCPNNS
                     GQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAMLVEIISDQLPKVE
                     SGNAKPLYFHRK"
     exon            2015..2154
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            2155..2271
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            2272..2622
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            2623..2767
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            2768..2898
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            2899..3056
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            3057..5792
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5771..5776
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="hexamer: AATAAA"
     polyA_site      5792
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="major polyA site"
ORIGIN      
        1 ctctcagccc ctccgcgccc ggggtgtcat tgggcccggg agacgggagc caacttcagg
       61 ctgctcagag gaagcccgtg cagtcagtca cctgggtgca agagcgttgc tgcctcgggc
      121 tctcccgctg cagggagagc ggcactcgct ggcctggatg tggttggatt taggggggct
      181 ccgcagcagg ggtttcgtgg cggtggcaag cgctgcaaca ggtagacggc gagagacgga
      241 ccccggccga ggcagcgatg gagaccaaag gctaccacag tctccctgaa ggtctagata
      301 tggaaagacg gtggggtcaa gtttctcagg ctgtggagcg ttcttccctg ggacctacag
      361 agaggaccga tgagaataac tacatggaga ttgtcaacgt aagctgtgtt tccggtgcta
      421 ttccaaacaa cagtactcaa ggaagcagca aagaaaaaca agaactactc ccttgccttc
      481 agcaagacaa taatcggcct gggattttaa catctgatat taaaactgag ctggaatcta
      541 aggaactttc agcaactgta gctgagtcca tgggtttata tatggattct gtaagagatg
      601 ctgactattc ctatgagcag cagaaccaac aaggaagcat gagtccagct aagatttatc
      661 agaatgttga acagctggtg aaattttaca aaggaaatgg ccatcgtcct tccactctaa
      721 gttgtgtgaa cacgcccttg agatcattta tgtctgactc tgggagctcc gtgaatggtg
      781 gcgtcatgcg cgccgttgtt aaaagcccta tcatgtgtca tgagaaaagc ccgtctgttt
      841 gcagccctct gaacatgaca tcttcggttt gcagccctgc tggaatcaac tctgtgtcct
      901 ccaccacagc cagctttggc agttttccag tgcacagccc aatcacccag ggaactcctc
      961 tgacatgctc ccctaatgtt gaaaatcgag gctccaggtc gcacagccct gcacatgcta
     1021 gcaatgtggg ctctcctctc tcaagtccgt taagtagcat gaaatcctca atttccagcc
     1081 ctccaagtca ctgcagtgta aaatctccag tctccagtcc caataatgtc actctgagat
     1141 cctctgtgtc tagccctgca aatattaaca actcaaggtg ctctgtttcc agcccttcga
     1201 acactaataa cagatccacg ctttccagtc cggcagccag tactgtggga tctatctgta
     1261 gccctgtaaa caatgccttc agctacactg cttctggcac ctctgctgga tccagtacat
     1321 tgcgggatgt ggttcccagt ccagacacgc aggagaaagg tgctcaagag gtcccttttc
     1381 ctaagactga ggaagtagag agtgccatct caaatggtgt gactggccag cttaatattg
     1441 tccagtacat aaaaccagaa ccagatggag cttttagcag ctcatgtcta ggaggaaata
     1501 gcaaaataaa ttcggattct tcattctcag taccaataaa gcaagaatca accaagcatt
     1561 catgttcagg cacctctttt aaagggaatc caacagtaaa cccgtttcca tttatggatg
     1621 gctcgtattt ttcctttatg gatgataaag actattattc cctatcagga attttaggac
     1681 cacctgtgcc cggctttgat ggtaactgtg aaggcagcgg attcccagtg ggtattaaac
     1741 aagaaccaga tgatgggagc tattacccag aggccagcat cccttcctct gctattgttg
     1801 gggtgaattc aggtggacag tccttccact acaggattgg tgctcaaggt acaatatctt
     1861 tatcacgatc ggctagagac caatctttcc aacacctgag ttcctttcct cctgtcaata
     1921 ctttagtgga gtcatggaaa tcacacggcg acctgtcgtc tagaagaagt gatgggtatc
     1981 cggtcttaga atacattcca gaaaatgtat caagctctac tttacgaagt gtttctactg
     2041 gatcttcaag accttcaaaa atatgtttgg tgtgtgggga tgaggcttca ggatgccatt
     2101 atggggtagt cacctgtggc agctgcaaag ttttcttcaa aagagcagtg gaagggcaac
     2161 acaactattt atgtgctgga agaaatgatt gcatcattga taagattcga cgaaagaatt
     2221 gtcctgcttg cagacttcag aaatgtcttc aagctggaat gaatttagga gcacgaaagt
     2281 caaagaagtt gggaaagtta aaagggattc acgaggagca gccacagcag cagcagcccc
     2341 cacccccacc cccacccccg caaagcccag aggaagggac aacgtacatc gctcctgcaa
     2401 aagaaccctc ggtcaacaca gcactggttc ctcagctctc cacaatctca cgagcgctca
     2461 caccttcccc cgttatggtc cttgaaaaca ttgaacctga aattgtatat gcaggctatg
     2521 acagctcaaa accagataca gccgaaaatc tgctctccac gctcaaccgc ttagcaggca
     2581 aacagatgat ccaagtcgtg aagtgggcaa aggtacttcc aggatttaaa aacttgcctc
     2641 ttgaggacca aattacccta atccagtatt cttggatgtg tctatcatca tttgccttga
     2701 gctggagatc gtacaaacat acgaacagcc aatttctcta ttttgcacca gacctagtct
     2761 ttaatgaaga gaagatgcat cagtctgcca tgtatgaact atgccagggg atgcaccaaa
     2821 tcagccttca gttcgttcga ctgcagctca cctttgaaga atacaccatc atgaaagttt
     2881 tgctgctact aagcacaatt ccaaaggatg gcctcaaaag ccaggctgca tttgaagaaa
     2941 tgaggacaaa ttacatcaaa gaactgagga agatggtaac taagtgtccc aacaattctg
     3001 ggcagagctg gcagaggttc taccaactga ccaagctgct ggactccatg catgacctgg
     3061 tgagcgacct gctggaattc tgcttctaca ccttccgaga gtcccatgcg ctgaaggtag
     3121 agttccccgc aatgctggtg gagatcatca gcgaccagct gcccaaggtg gagtcgggga
     3181 acgccaagcc gctctacttc caccggaagt gactgcccgc tgcccagaag aactttgcct
     3241 taagtttccc tgtgttgttc cacacccaga aggacccaag aaaacctgtt tttaacatgt
     3301 gatggttgat tcacacttgt tcaacagttt ctcaagttta aagtcatgtc agaggtttgg
     3361 agccgggaaa gctgtttttc cgtggatttg gcgagaccag agcagtctga aggattcccc
     3421 acctccaatc ccccagcgct tagaaacatg ttcctgttcc tcgggatgaa aagccatatc
     3481 tagtcaataa ctctgatttt gatattttca cagatggaag aagttttaac tatgccgtgt
     3541 agtttctggt atcgttcgct tgttttaaaa gggttcaagg actaacgaac gttttaaagc
     3601 ttacccttgg tttgcacata aaacgtatag tcaatatggg gcattaatat tcttttgtta
     3661 ttaaaaaaac acaaaaaaat aataaaaaaa tatatacaga ttcctgttgt gtaataacag
     3721 aactcgtggc gtggggcagc agctgcctct gagccctcgc tcgtccacgg tcttctgcat
     3781 cactggtata cacactcgtt agcgtccatt tcttatttaa ttagaatgga taagatgatg
     3841 ttaaatgcct tggtttgatt tctagtatct attgtgttgg ctttacaaat aattttttgc
     3901 agtcttttgc tgtgctgtac attactgtat gtataaatta tgaaggacct gaaataaggt
     3961 ataaggatct tttgtaaatg agacacatac aaaaaaaatc tttaatggtt aataggatga
     4021 atgggaaagt atttttgaaa gaattctatt ttgctggaga ctatttaagt actatctttg
     4081 tctaaacaag gtaatttttt tttgtaaagt gcaatgtcct gcatgcataa tgaaccgttt
     4141 acagtgtatt taagaaaggg aaagctgtgc cttttttagc ttcatatcta atttaccatt
     4201 attttacagt ctctgttgta aataaccaca ctgaaacctc ttcggttgtc ttgaaacctt
     4261 tctacttttt ctgtactttt tgttttgttc ttggtctccc gcttggggca tttgtgggac
     4321 tccagcacgt tttctggctt ctgcttcatc ctgctccatc ggggaatgac acactgcggt
     4381 gtctgcagct cctggaaggt gtcatttgac aacacatgtg ggagaggagg tccttggagt
     4441 gctgcagctt tgggaaagct gcctcgtttc ccttttcctc tagaagcaga accagctcta
     4501 cgagagtgag actgggaact tgatggctca gagagcatct tttcctccca ttttagaaaa
     4561 tcagattttc tcctgtggga aaaaaaaatt ccatgcactc tctctctgtt aaagatcagc
     4621 tattcccttc tgatcttgga aagaggttct gcactcctgg aaccggtcac aggaacgcac
     4681 agatcatggc aggatgcgct gggacggccc atcttggcaa ggttcagtct gaatggcatg
     4741 gagaccggga gatagagggg ttttagattt ttaaaaggta ggttttaaaa ataagtttta
     4801 tacataaaca gttttggaga aaaattacag atcatataag caagacagtg gcactaaaat
     4861 gtttaattca ttaatctgtt tgtttggcac tgatgcaatg tatggctttt ctcttgcccc
     4921 aaatcacaaa catatgtatc tttggggaaa ctaacaatat gattgcacta aataaactac
     4981 tttgaataga ggccaaatta atcttttaaa aatgatgata atcatcaggt ttactcagtg
     5041 aaatcatatt aattattttc caaaatctaa aagctgtagc tggagaagcc catggccacg
     5101 aggaagcagc aattaattag atcaacactt ttctccaggg ttcaccatgc aggcaacatt
     5161 accttgtctt tcaaaagaca cctgccttat gcaaggggaa acctgtgaaa gctgcactca
     5221 gagggaggag tttttcttac ataatttgca atttcaggaa tttaatttat aggcagatct
     5281 ttaaatacag tcaacttacg gtgcacagta atatgaaagc cacactttga aggtaataaa
     5341 tacacagcat gcagactggg agttgctagc aaacaaatgg cttacttaca aaagcagctt
     5401 ttagttcaga cttagttttt ataaaatggg aattctgact tacttaacca ggtttgggat
     5461 ggagatggtc tgcatcagct ttttgtatta acaaagttac tggctctttg tgtgtctcca
     5521 ggtaactttg cttgattaaa cagcaaagcc atattctaaa ttcactgttg aatgcctgtc
     5581 ccagtccaaa ttgtctgtct gctcttattt ttgtaccata ttgctcttaa aaatcttggt
     5641 ttggtacagt tcataattca ccaaaagttc atataattta aagaaacact aaattagttt
     5701 aaaatgaagc aatttatatc tttatgcaaa aacatatgtc tgtctttgca aaggactgta
     5761 agcagattac aataaatcct ttactttaat ca
//
