LOCUS       NM_001354819            5359 bp    mRNA    linear   PRI 17-FEB-2025
DEFINITION  Homo sapiens nuclear receptor subfamily 3 group C member 2 (NR3C2),
            transcript variant 3, mRNA.
ACCESSION   NM_001354819
VERSION     NM_001354819.1
KEYWORDS    RefSeq.
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 5359)
  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 5359)
  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 5359)
  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 5359)
  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 5359)
  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 5359)
  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 5359)
  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 5359)
  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 5359)
  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 5359)
  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 AC093881.2, AC106889.3,
            AC069272.18 and AC093678.4.
            
            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 (3) differs in the 5' UTR and
            lacks an alternate in-frame exon in the central coding region
            compared to variant 1, resulting in an isoform (2) that is shorter
            than isoform 1. Variants 2 and 3 both encode the same isoform (2).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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##
            CDS exon combination :: SRR1803611.69655.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-173               AC093881.2         46846-47018         c
            174-1932            AC093881.2         37424-39182         c
            1933-2072           AC106889.3         3728-3867           c
            2073-2189           AC069272.18        96854-96970         c
            2190-2334           AC069272.18        54577-54721         c
            2335-2465           AC069272.18        22266-22396         c
            2466-2623           AC069272.18        16212-16369         c
            2624-5359           AC093678.4         85623-88358         c
FEATURES             Location/Qualifiers
     source          1..5359
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.23"
     gene            1..5359
                     /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..173
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            174..1932
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     CDS             176..2779
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="isoform 2 is encoded by transcript variant 3;
                     aldosterone receptor; mineralocorticoid receptor delta;
                     mineralocorticoid receptor 1; mineralocorticoid receptor
                     2"
                     /codon_start=1
                     /product="mineralocorticoid receptor isoform 2"
                     /protein_id="NP_001341748.1"
                     /db_xref="CCDS:CCDS54811.1"
                     /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
                     VFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRLQKCLQAGMNLGGFKNLPLEDQI
                     TLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKMHQSAMYELCQGMHQISL
                     QFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYIKELRKMVTKCPNNSG
                     QSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAMLVEIISDQLPKVES
                     GNAKPLYFHRK"
     exon            1933..2072
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            2073..2189
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            2190..2334
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            2335..2465
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            2466..2623
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     exon            2624..5359
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5338..5343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="hexamer: AATAAA"
     polyA_site      5359
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="major polyA site"
ORIGIN      
        1 attgctctac ccaccgtcag cagggcgact gccactgccg ggattatcat cctctccatc
       61 ctcaccgccg atcagccaat attggacttg ctggtggcgg cggcagcagc ggcggcggga
      121 gtctagccgt tccccttccc ccgccccagc ctccccacca tgtcctagaa aagcgatgga
      181 gaccaaaggc taccacagtc tccctgaagg tctagatatg gaaagacggt ggggtcaagt
      241 ttctcaggct gtggagcgtt cttccctggg acctacagag aggaccgatg agaataacta
      301 catggagatt gtcaacgtaa gctgtgtttc cggtgctatt ccaaacaaca gtactcaagg
      361 aagcagcaaa gaaaaacaag aactactccc ttgccttcag caagacaata atcggcctgg
      421 gattttaaca tctgatatta aaactgagct ggaatctaag gaactttcag caactgtagc
      481 tgagtccatg ggtttatata tggattctgt aagagatgct gactattcct atgagcagca
      541 gaaccaacaa ggaagcatga gtccagctaa gatttatcag aatgttgaac agctggtgaa
      601 attttacaaa ggaaatggcc atcgtccttc cactctaagt tgtgtgaaca cgcccttgag
      661 atcatttatg tctgactctg ggagctccgt gaatggtggc gtcatgcgcg ccgttgttaa
      721 aagccctatc atgtgtcatg agaaaagccc gtctgtttgc agccctctga acatgacatc
      781 ttcggtttgc agccctgctg gaatcaactc tgtgtcctcc accacagcca gctttggcag
      841 ttttccagtg cacagcccaa tcacccaggg aactcctctg acatgctccc ctaatgttga
      901 aaatcgaggc tccaggtcgc acagccctgc acatgctagc aatgtgggct ctcctctctc
      961 aagtccgtta agtagcatga aatcctcaat ttccagccct ccaagtcact gcagtgtaaa
     1021 atctccagtc tccagtccca ataatgtcac tctgagatcc tctgtgtcta gccctgcaaa
     1081 tattaacaac tcaaggtgct ctgtttccag cccttcgaac actaataaca gatccacgct
     1141 ttccagtccg gcagccagta ctgtgggatc tatctgtagc cctgtaaaca atgccttcag
     1201 ctacactgct tctggcacct ctgctggatc cagtacattg cgggatgtgg ttcccagtcc
     1261 agacacgcag gagaaaggtg ctcaagaggt cccttttcct aagactgagg aagtagagag
     1321 tgccatctca aatggtgtga ctggccagct taatattgtc cagtacataa aaccagaacc
     1381 agatggagct tttagcagct catgtctagg aggaaatagc aaaataaatt cggattcttc
     1441 attctcagta ccaataaagc aagaatcaac caagcattca tgttcaggca cctcttttaa
     1501 agggaatcca acagtaaacc cgtttccatt tatggatggc tcgtattttt cctttatgga
     1561 tgataaagac tattattccc tatcaggaat tttaggacca cctgtgcccg gctttgatgg
     1621 taactgtgaa ggcagcggat tcccagtggg tattaaacaa gaaccagatg atgggagcta
     1681 ttacccagag gccagcatcc cttcctctgc tattgttggg gtgaattcag gtggacagtc
     1741 cttccactac aggattggtg ctcaaggtac aatatcttta tcacgatcgg ctagagacca
     1801 atctttccaa cacctgagtt cctttcctcc tgtcaatact ttagtggagt catggaaatc
     1861 acacggcgac ctgtcgtcta gaagaagtga tgggtatccg gtcttagaat acattccaga
     1921 aaatgtatca agctctactt tacgaagtgt ttctactgga tcttcaagac cttcaaaaat
     1981 atgtttggtg tgtggggatg aggcttcagg atgccattat ggggtagtca cctgtggcag
     2041 ctgcaaagtt ttcttcaaaa gagcagtgga agggcaacac aactatttat gtgctggaag
     2101 aaatgattgc atcattgata agattcgacg aaagaattgt cctgcttgca gacttcagaa
     2161 atgtcttcaa gctggaatga atttaggagg atttaaaaac ttgcctcttg aggaccaaat
     2221 taccctaatc cagtattctt ggatgtgtct atcatcattt gccttgagct ggagatcgta
     2281 caaacatacg aacagccaat ttctctattt tgcaccagac ctagtcttta atgaagagaa
     2341 gatgcatcag tctgccatgt atgaactatg ccaggggatg caccaaatca gccttcagtt
     2401 cgttcgactg cagctcacct ttgaagaata caccatcatg aaagttttgc tgctactaag
     2461 cacaattcca aaggatggcc tcaaaagcca ggctgcattt gaagaaatga ggacaaatta
     2521 catcaaagaa ctgaggaaga tggtaactaa gtgtcccaac aattctgggc agagctggca
     2581 gaggttctac caactgacca agctgctgga ctccatgcat gacctggtga gcgacctgct
     2641 ggaattctgc ttctacacct tccgagagtc ccatgcgctg aaggtagagt tccccgcaat
     2701 gctggtggag atcatcagcg accagctgcc caaggtggag tcggggaacg ccaagccgct
     2761 ctacttccac cggaagtgac tgcccgctgc ccagaagaac tttgccttaa gtttccctgt
     2821 gttgttccac acccagaagg acccaagaaa acctgttttt aacatgtgat ggttgattca
     2881 cacttgttca acagtttctc aagtttaaag tcatgtcaga ggtttggagc cgggaaagct
     2941 gtttttccgt ggatttggcg agaccagagc agtctgaagg attccccacc tccaatcccc
     3001 cagcgcttag aaacatgttc ctgttcctcg ggatgaaaag ccatatctag tcaataactc
     3061 tgattttgat attttcacag atggaagaag ttttaactat gccgtgtagt ttctggtatc
     3121 gttcgcttgt tttaaaaggg ttcaaggact aacgaacgtt ttaaagctta cccttggttt
     3181 gcacataaaa cgtatagtca atatggggca ttaatattct tttgttatta aaaaaacaca
     3241 aaaaaataat aaaaaaatat atacagattc ctgttgtgta ataacagaac tcgtggcgtg
     3301 gggcagcagc tgcctctgag ccctcgctcg tccacggtct tctgcatcac tggtatacac
     3361 actcgttagc gtccatttct tatttaatta gaatggataa gatgatgtta aatgccttgg
     3421 tttgatttct agtatctatt gtgttggctt tacaaataat tttttgcagt cttttgctgt
     3481 gctgtacatt actgtatgta taaattatga aggacctgaa ataaggtata aggatctttt
     3541 gtaaatgaga cacatacaaa aaaaatcttt aatggttaat aggatgaatg ggaaagtatt
     3601 tttgaaagaa ttctattttg ctggagacta tttaagtact atctttgtct aaacaaggta
     3661 attttttttt gtaaagtgca atgtcctgca tgcataatga accgtttaca gtgtatttaa
     3721 gaaagggaaa gctgtgcctt ttttagcttc atatctaatt taccattatt ttacagtctc
     3781 tgttgtaaat aaccacactg aaacctcttc ggttgtcttg aaacctttct actttttctg
     3841 tactttttgt tttgttcttg gtctcccgct tggggcattt gtgggactcc agcacgtttt
     3901 ctggcttctg cttcatcctg ctccatcggg gaatgacaca ctgcggtgtc tgcagctcct
     3961 ggaaggtgtc atttgacaac acatgtggga gaggaggtcc ttggagtgct gcagctttgg
     4021 gaaagctgcc tcgtttccct tttcctctag aagcagaacc agctctacga gagtgagact
     4081 gggaacttga tggctcagag agcatctttt cctcccattt tagaaaatca gattttctcc
     4141 tgtgggaaaa aaaaattcca tgcactctct ctctgttaaa gatcagctat tcccttctga
     4201 tcttggaaag aggttctgca ctcctggaac cggtcacagg aacgcacaga tcatggcagg
     4261 atgcgctggg acggcccatc ttggcaaggt tcagtctgaa tggcatggag accgggagat
     4321 agaggggttt tagattttta aaaggtaggt tttaaaaata agttttatac ataaacagtt
     4381 ttggagaaaa attacagatc atataagcaa gacagtggca ctaaaatgtt taattcatta
     4441 atctgtttgt ttggcactga tgcaatgtat ggcttttctc ttgccccaaa tcacaaacat
     4501 atgtatcttt ggggaaacta acaatatgat tgcactaaat aaactacttt gaatagaggc
     4561 caaattaatc ttttaaaaat gatgataatc atcaggttta ctcagtgaaa tcatattaat
     4621 tattttccaa aatctaaaag ctgtagctgg agaagcccat ggccacgagg aagcagcaat
     4681 taattagatc aacacttttc tccagggttc accatgcagg caacattacc ttgtctttca
     4741 aaagacacct gccttatgca aggggaaacc tgtgaaagct gcactcagag ggaggagttt
     4801 ttcttacata atttgcaatt tcaggaattt aatttatagg cagatcttta aatacagtca
     4861 acttacggtg cacagtaata tgaaagccac actttgaagg taataaatac acagcatgca
     4921 gactgggagt tgctagcaaa caaatggctt acttacaaaa gcagctttta gttcagactt
     4981 agtttttata aaatgggaat tctgacttac ttaaccaggt ttgggatgga gatggtctgc
     5041 atcagctttt tgtattaaca aagttactgg ctctttgtgt gtctccaggt aactttgctt
     5101 gattaaacag caaagccata ttctaaattc actgttgaat gcctgtccca gtccaaattg
     5161 tctgtctgct cttatttttg taccatattg ctcttaaaaa tcttggtttg gtacagttca
     5221 taattcacca aaagttcata taatttaaag aaacactaaa ttagtttaaa atgaagcaat
     5281 ttatatcttt atgcaaaaac atatgtctgt ctttgcaaag gactgtaagc agattacaat
     5341 aaatccttta ctttaatca
//
