LOCUS       NM_000399               2979 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens early growth response 2 (EGR2), transcript variant 1,
            mRNA.
ACCESSION   NM_000399
VERSION     NM_000399.5
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 2979)
  AUTHORS   Li,W., He,S., Tan,J., Li,N., Zhao,C., Wang,X., Zhang,Z., Liu,J.,
            Huang,J., Li,X., Zhou,Q., Hu,K., Yang,P. and Hou,S.
  TITLE     Transcription factor EGR2 alleviates autoimmune uveitis via
            activation of GDF15 to modulate the retinal microglial phenotype
  JOURNAL   Proc Natl Acad Sci U S A 121 (39), e2316161121 (2024)
   PUBMED   39298490
  REMARK    GeneRIF: Transcription factor EGR2 alleviates autoimmune uveitis
            via activation of GDF15 to modulate the retinal microglial
            phenotype.
REFERENCE   2  (bases 1 to 2979)
  AUTHORS   Song,A., Yan,R., Xiong,W., Xiang,H., Huang,J., Jiang,A. and
            Zhang,C.
  TITLE     Early growth response protein 2 promotes partial
            epithelial-mesenchymal transition by phosphorylating Smad3 during
            renal fibrosis
  JOURNAL   Transl Res 271, 13-25 (2024)
   PUBMED   38679230
  REMARK    GeneRIF: Early growth response protein 2 promotes partial
            epithelial-mesenchymal transition by phosphorylating Smad3 during
            renal fibrosis.
REFERENCE   3  (bases 1 to 2979)
  AUTHORS   Jian,H., Feng,H., Zhu,L., Li,X. and Ma,Z.
  TITLE     MicroRNA-150-5P regulates Th1/Th2 cytokines expression levels by
            targeting EGR2 in allergic rhinitis
  JOURNAL   Rhinology 62 (2), 250-256 (2024)
   PUBMED   38165680
  REMARK    GeneRIF: MicroRNA-150-5P regulates Th1/Th2 cytokines expression
            levels by targeting EGR2 in allergic rhinitis.
REFERENCE   4  (bases 1 to 2979)
  AUTHORS   .
  TITLE     EGR2 drives TH17 cell pathogenicity in autoimmune neuroinflammation
  JOURNAL   Nat Immunol 24 (8), 1230-1231 (2023)
   PUBMED   37474655
  REMARK    GeneRIF: EGR2 drives TH17 cell pathogenicity in autoimmune
            neuroinflammation.
REFERENCE   5  (bases 1 to 2979)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301641
REFERENCE   6  (bases 1 to 2979)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   7  (bases 1 to 2979)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 1 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301384
REFERENCE   8  (bases 1 to 2979)
  AUTHORS   Rangnekar,V.M., Aplin,A.C. and Sukhatme,V.P.
  TITLE     The serum and TPA responsive promoter and intron-exon structure of
            EGR2, a human early growth response gene encoding a zinc finger
            protein
  JOURNAL   Nucleic Acids Res 18 (9), 2749-2757 (1990)
   PUBMED   2111009
REFERENCE   9  (bases 1 to 2979)
  AUTHORS   Chavrier,P., Janssen-Timmen,U., Mattei,M.G., Zerial,M., Bravo,R.
            and Charnay,P.
  TITLE     Structure, chromosome location, and expression of the mouse zinc
            finger gene Krox-20: multiple gene products and coregulation with
            the proto-oncogene c-fos
  JOURNAL   Mol Cell Biol 9 (2), 787-797 (1989)
   PUBMED   2496302
REFERENCE   10 (bases 1 to 2979)
  AUTHORS   Joseph,L.J., Le Beau,M.M., Jamieson,G.A. Jr., Acharya,S.,
            Shows,T.B., Rowley,J.D. and Sukhatme,V.P.
  TITLE     Molecular cloning, sequencing, and mapping of EGR2, a human early
            growth response gene encoding a protein with 'zinc-binding finger'
            structure
  JOURNAL   Proc Natl Acad Sci U S A 85 (19), 7164-7168 (1988)
   PUBMED   3140236
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1989 Jan;86(2):515]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133417.11 and KF459538.1.
            
            On Nov 22, 2018 this sequence version replaced NM_000399.4.
            
            Summary: The protein encoded by this gene is a transcription factor
            with three tandem C2H2-type zinc fingers. Defects in this gene are
            associated with Charcot-Marie-Tooth disease type 1D (CMT1D),
            Charcot-Marie-Tooth disease type 4E (CMT4E), and with
            Dejerine-Sottas syndrome (DSS). Multiple transcript variants
            encoding two different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Variants 1, 2, and 3
            all encode the same isoform.
            
            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 :: CR749641.1, SRR1660805.72069.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154125
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242480.4/ ENSP00000242480.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-506               AL133417.11        27348-27853         c
            507-780             AL133417.11        25682-25955         c
            781-1151            KF459538.1         1-371               c
            1152-2979           AL133417.11        23483-25310         c
FEATURES             Location/Qualifiers
     source          1..2979
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.3"
     gene            1..2979
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="early growth response 2"
                     /db_xref="GeneID:1959"
                     /db_xref="HGNC:HGNC:3239"
                     /db_xref="MIM:129010"
     exon            1..506
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /inference="alignment:Splign:2.1.0"
     CDS             338..1768
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="isoform a is encoded by transcript variant 1;
                     KROX-20, Drosophila, homolog (early growth response-2);
                     early growth response protein 2; zinc finger protein
                     Krox-20; E3 SUMO-protein ligase EGR2; E3 SUMO-protein
                     transferase ERG2"
                     /codon_start=1
                     /product="E3 SUMO-protein ligase EGR2 isoform a"
                     /protein_id="NP_000390.2"
                     /db_xref="CCDS:CCDS7267.1"
                     /db_xref="GeneID:1959"
                     /db_xref="HGNC:HGNC:3239"
                     /db_xref="MIM:129010"
                     /translation="MMTAKAVDKIPVTLSGFVHQLSDNIYPVEDLAATSVTIFPNAEL
                     GGPFDQMNGVAGDGMINIDMTGEKRSLDLPYPSSFAPVSAPRNQTFTYMGKFSIDPQY
                     PGASCYPEGIINIVSAGILQGVTSPASTTASSSVTSASPNPLATGPLGVCTMSQTQPD
                     LDHLYSPPPPPPPYSGCAGDLYQDPSAFLSAATTSTSSSLAYPPPPSYPSPKPATDPG
                     LFPMIPDYPGFFPSQCQRDLHGTAGPDRKPFPCPLDTLRVPPPLTPLSTIRNFTLGGP
                     SAGVTGPGASGGSEGPRLPGSSSAAAAAAAAAAYNPHHLPLRPILRPRKYPNRPSKTP
                     VHERPYPCPAEGCDRRFSRSDELTRHIRIHTGHKPFQCRICMRNFSRSDHLTTHIRTH
                     TGEKPFACDYCGRKFARSDERKRHTKIHLRQKERKSSAPSASVPAPSTASCSGGVQPG
                     GTLCSSNSSSLGGGPLAPCSSRTRTP"
     exon            507..2979
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2959..2964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="hexamer: AATAAA"
     polyA_site      2979
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="major polyA site"
ORIGIN      
        1 aactgagcga ggagcaattg attaatagct cggcgagggg actcactgac tgttataata
       61 acactacacc agcaactcct ggcttcccag cagccggaac acagacagga gagagtcagt
      121 ggcaaataga catttttctt atttcttaaa aaacagcaac ttgtttgcta cttttatttc
      181 tgttgatttt tttttcttgg tgtgtgtggt ggttgttttt aagtgtggag ggcaaaagga
      241 gataccatcc caggctcagt ccaacccctc tccaaaacgg cttttctgac actccaggta
      301 gcgagggagt tgggtctcca ggttgtgcga ggagcaaatg atgaccgcca aggccgtaga
      361 caaaatccca gtaactctca gtggttttgt gcaccagctg tctgacaaca tctacccggt
      421 ggaggacctc gccgccacgt cggtgaccat ctttcccaat gccgaactgg gaggcccctt
      481 tgaccagatg aacggagtgg ccggagatgg catgatcaac attgacatga ctggagagaa
      541 gaggtcgttg gatctcccat atcccagcag ctttgctccc gtctctgcac ctagaaacca
      601 gaccttcact tacatgggca agttctccat tgaccctcag taccctggtg ccagctgcta
      661 cccagaaggc ataatcaata ttgtgagtgc aggcatcttg caaggggtca cttccccagc
      721 ttcaaccaca gcctcatcca gcgtcacctc tgcctccccc aacccactgg ccacaggacc
      781 cctgggtgtg tgcaccatgt cccagaccca gcctgacctg gaccacctgt actctccgcc
      841 accgcctcct cctccttatt ctggctgtgc aggagacctc taccaggacc cttctgcgtt
      901 cctgtcagca gccaccacct ccacctcttc ctctctggcc tacccaccac ctccttccta
      961 tccatccccc aagccagcca cggacccagg tctcttccca atgatcccag actatcctgg
     1021 attctttcca tctcagtgcc agagagacct acatggtaca gctggcccag accgtaagcc
     1081 ctttccctgc ccactggaca ccctgcgggt gccccctcca ctcactccac tctctacaat
     1141 ccgtaacttt accctggggg gccccagtgc tggggtgacc ggaccagggg ccagtggagg
     1201 cagcgaggga ccccggctgc ctggtagcag ctcagcagca gcagcagccg ccgccgccgc
     1261 cgcctataac ccacaccacc tgccactgcg gcccattctg aggcctcgca agtaccccaa
     1321 cagacccagc aagacgccgg tgcacgagag gccctacccg tgcccagcag aaggctgcga
     1381 ccggcggttc tcccgctctg acgagctgac acggcacatc cgaatccaca ctgggcataa
     1441 gcccttccag tgtcggatct gcatgcgcaa cttcagccgc agtgaccacc tcaccaccca
     1501 tatccgcacc cacaccggtg agaagccctt cgcctgtgac tactgtggcc gaaagtttgc
     1561 ccggagtgat gagaggaagc gccacaccaa gatccacctg agacagaaag agcggaaaag
     1621 cagtgccccc tctgcatcgg tgccagcccc ctctacagcc tcctgctctg ggggcgtgca
     1681 gcctgggggt accctgtgca gcagtaacag cagcagtctt ggcggagggc cgctcgcccc
     1741 ttgctcctct cggacccgga caccttgaga tgagactcag gctgatacac cagctcccaa
     1801 aggtcccgga ggccctttgt ccactggagc tgcacaacaa acactaccac cctttcctgt
     1861 ccctctctcc ctttgttggg caaagggctt tggtggagct agcactgccc cctttccacc
     1921 tagaagcagg ttcttcctaa aacttagccc attctagtct ctcttaggtg agttgactat
     1981 caacccaagg caaaggggag gctcagaagg aggtggtgtg gggacccctg gccaagaggg
     2041 ctgaggtctg accctgcttt aaagggttgt ttgactaggt tttgctaccc cacttcccct
     2101 tattttgacc catcacaggt ttttgaccct ggatgtcaga gttgatctaa gacgttttct
     2161 acaataggtt gggagatgct gatcccttca agtggggaca gcaaaaagac aagcaaaact
     2221 gatgtgcact ttatggcttg ggactgattt gggggacatt gtacagtgag tgaagtatag
     2281 cctttatgcc acactctgtg gccctaaaat ggtgaatcag agcatatcta gttgtctcaa
     2341 cccttgaagc aatatgtatt ataaactcag agaacagaag tgcaatgtga tgggaggaac
     2401 atagcaatat ctgctccttt tcgagttgtt tgagaaatgt aggctatttt ttcagtgtat
     2461 atccactcag attttgtgta tttttgatgt acactgttct ctaaattctg aatctttggg
     2521 aaaaaatgta aagcatttat gatctcagag gttaacttat ttaaggggga tgtacatata
     2581 ttctctgaaa ctaggatgca tgcaattgtg ttggaagtgt ccttggtgcc ttgtgtgatg
     2641 tagacaatgt tacaaggtct gcatgtaaat gggttgcctt attatggaga aaaaaaatca
     2701 ctccctgagt ttagtatggc tgtatatttc tgcctattaa tatttggaat tttttttaga
     2761 aagtatattt ttgtatgctt tgttttgtga cttaaaagtg ttacctttgt agtcaaattt
     2821 cagataagaa tgtacataat gttaccggag ctgatttgtt tggtcattag ctcttaatag
     2881 ttgtgaaaaa ataaatctat tctaacgcaa aaccactaac tgaagttcag ataatggatg
     2941 gtttgtgact atagtgtaaa taaatacttt tcaacaata
//
