LOCUS       NM_004456               2654 bp    mRNA    linear   PRI 27-FEB-2025
DEFINITION  Homo sapiens enhancer of zeste 2 polycomb repressive complex 2
            subunit (EZH2), transcript variant 1, mRNA.
ACCESSION   NM_004456
VERSION     NM_004456.5
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 2654)
  AUTHORS   Zhang,D., Qiu,Y., Zhang,W., Du,D., Liu,Y., Liu,L., Li,J., Chen,Z.,
            Yu,X., Ye,M., Wang,W., Li,Z. and Shao,J.
  TITLE     Homeobox B9 promotes the invasion and metastasis of hepatocellular
            carcinoma cells via the EZH2-MIR203A-SNAI2 axis
  JOURNAL   J Transl Med 22 (1), 918 (2024)
   PUBMED   39390614
  REMARK    GeneRIF: Homeobox B9 promotes the invasion and metastasis of
            hepatocellular carcinoma cells via the EZH2-MIR203A-SNAI2 axis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2654)
  AUTHORS   Mingardo,E., Kalanithy,J.C., Dworschak,G., Ishorst,N., Yilmaz,O.,
            Lindenberg,T., Hollstein,R., Felger,T., Angrand,P.O., Reutter,H.
            and Odermatt,B.
  TITLE     EZH2 specifically regulates ISL1 during embryonic urinary tract
            formation
  JOURNAL   Sci Rep 14 (1), 22909 (2024)
   PUBMED   39358471
  REMARK    GeneRIF: EZH2 specifically regulates ISL1 during embryonic urinary
            tract formation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2654)
  AUTHORS   Gallardo,A., Lopez-Onieva,L., Belmonte-Reche,E.,
            Fernandez-Rengel,I., Serrano-Prados,A., Molina,A., Sanchez-Pozo,A.
            and Landeira,D.
  TITLE     EZH2 represses mesenchymal genes and upholds the epithelial state
            of breast carcinoma cells
  JOURNAL   Cell Death Dis 15 (8), 609 (2024)
   PUBMED   39174513
  REMARK    GeneRIF: EZH2 represses mesenchymal genes and upholds the
            epithelial state of breast carcinoma cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2654)
  AUTHORS   Hu,X., Liu,Y., Shen,H., Zhang,T. and Liang,T.
  TITLE     MTF2 facilitates the advancement of osteosarcoma through mediating
            EZH2/SFRP1/Wnt signaling
  JOURNAL   J Orthop Surg Res 19 (1), 467 (2024)
   PUBMED   39118123
  REMARK    GeneRIF: MTF2 facilitates the advancement of osteosarcoma through
            mediating EZH2/SFRP1/Wnt signaling.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2654)
  AUTHORS   Wang,J., Shen,S., You,J., Wang,Z., Li,Y., Chen,Y., Tuo,Y., Chen,D.,
            Yu,H., Zhang,J., Wang,F., Pang,X., Xiao,Z., Lan,Q. and Wang,Y.
  TITLE     PRMT6 facilitates EZH2 protein stability by inhibiting
            TRAF6-mediated ubiquitination degradation to promote glioblastoma
            cell invasion and migration
  JOURNAL   Cell Death Dis 15 (7), 524 (2024)
   PUBMED   39043634
  REMARK    GeneRIF: PRMT6 facilitates EZH2 protein stability by inhibiting
            TRAF6-mediated ubiquitination degradation to promote glioblastoma
            cell invasion and migration.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2654)
  AUTHORS   Cardoso,C., Timsit,S., Villard,L., Khrestchatisky,M., Fontes,M. and
            Colleaux,L.
  TITLE     Specific interaction between the XNP/ATR-X gene product and the SET
            domain of the human EZH2 protein
  JOURNAL   Hum Mol Genet 7 (4), 679-684 (1998)
   PUBMED   9499421
REFERENCE   7  (bases 1 to 2654)
  AUTHORS   Laible,G., Wolf,A., Dorn,R., Reuter,G., Nislow,C., Lebersorger,A.,
            Popkin,D., Pillus,L. and Jenuwein,T.
  TITLE     Mammalian homologues of the Polycomb-group gene Enhancer of zeste
            mediate gene silencing in Drosophila heterochromatin and at S.
            cerevisiae telomeres
  JOURNAL   EMBO J 16 (11), 3219-3232 (1997)
   PUBMED   9214638
REFERENCE   8  (bases 1 to 2654)
  AUTHORS   Chen,H., Rossier,C. and Antonarakis,S.E.
  TITLE     Cloning of a human homolog of the Drosophila enhancer of zeste gene
            (EZH2) that maps to chromosome 21q22.2
  JOURNAL   Genomics 38 (1), 30-37 (1996)
   PUBMED   8954776
REFERENCE   9  (bases 1 to 2654)
  AUTHORS   Hobert,O., Jallal,B. and Ullrich,A.
  TITLE     Interaction of Vav with ENX-1, a putative transcriptional regulator
            of homeobox gene expression
  JOURNAL   Mol Cell Biol 16 (6), 3066-3073 (1996)
   PUBMED   8649418
REFERENCE   10 (bases 1 to 2654)
  AUTHORS   Ocansey,S. and Tatton-Brown,K.
  TITLE     EZH2-Related Overgrowth
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23865096
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN283479.1, BC010858.2 and
            BU953788.1.
            
            On Aug 31, 2019 this sequence version replaced NM_004456.4.
            
            Summary: This gene encodes a member of the Polycomb-group (PcG)
            family. PcG family members form multimeric protein complexes, which
            are involved in maintaining the transcriptional repressive state of
            genes over successive cell generations. This protein associates
            with the embryonic ectoderm development protein, the VAV1
            oncoprotein, and the X-linked nuclear protein. This protein may
            play a role in the hematopoietic and central nervous systems.
            Multiple alternatively splcied transcript variants encoding
            distinct isoforms have been identified for this gene. [provided by
            RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: BC010858.2, SRR14038193.1698414.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320356.7/ ENSP00000320147.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                CN283479.1         59-71
            14-2652             BC010858.2         1-2639
            2653-2654           BU953788.1         491-492
FEATURES             Location/Qualifiers
     source          1..2654
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..2654
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /note="enhancer of zeste 2 polycomb repressive complex 2
                     subunit"
                     /db_xref="GeneID:2146"
                     /db_xref="HGNC:HGNC:3527"
                     /db_xref="MIM:601573"
     exon            1..128
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            129..252
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             136..2391
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /EC_number="2.1.1.356"
                     /note="isoform a is encoded by transcript variant 1;
                     lysine N-methyltransferase 6; histone-lysine
                     N-methyltransferase EZH2; enhancer of zeste homolog 2"
                     /codon_start=1
                     /product="histone-lysine N-methyltransferase EZH2 isoform
                     a"
                     /protein_id="NP_004447.2"
                     /db_xref="CCDS:CCDS5891.1"
                     /db_xref="GeneID:2146"
                     /db_xref="HGNC:HGNC:3527"
                     /db_xref="MIM:601573"
                     /translation="MGQTGKKSEKGPVCWRKRVKSEYMRLRQLKRFRRADEVKSMFSS
                     NRQKILERTEILNQEWKQRRIQPVHILTSVSSLRGTRECSVTSDLDFPTQVIPLKTLN
                     AVASVPIMYSWSPLQQNFMVEDETVLHNIPYMGDEVLDQDGTFIEELIKNYDGKVHGD
                     RECGFINDEIFVELVNALGQYNDDDDDDDGDDPEEREEKQKDLEDHRDDKESRPPRKF
                     PSDKIFEAISSMFPDKGTAEELKEKYKELTEQQLPGALPPECTPNIDGPNAKSVQREQ
                     SLHSFHTLFCRRCFKYDCFLHRKCNYSFHATPNTYKRKNTETALDNKPCGPQCYQHLE
                     GAKEFAAALTAERIKTPPKRPGGRRRGRLPNNSSRPSTPTINVLESKDTDSDREAGTE
                     TGGENNDKEEEEKKDETSSSSEANSRCQTPIKMKPNIEPPENVEWSGAEASMFRVLIG
                     TYYDNFCAIARLIGTKTCRQVYEFRVKESSIIAPAPAEDVDTPPRKKKRKHRLWAAHC
                     RKIQLKKDGSSNHVYNYQPCDHPRQPCDSSCPCVIAQNFCEKFCQCSSECQNRFPGCR
                     CKAQCNTKQCPCYLAVRECDPDLCLTCGAADHWDSKNVSCKNCSIQRGSKKHLLLAPS
                     DVAGWGIFIKDPVQKNEFISEYCGEIISQDEADRRGKVYDKYMCSFLFNLNNDFVVDA
                     TRKGNKIRFANHSVNPNCYAKVMMVNGDHRIGIFAKRAIQTGEELFFDYRYSQADALK
                     YVGIEREMEIP"
     exon            253..381
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            382..498
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            499..619
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            620..760
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            761..863
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            864..1042
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1043..1134
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1375
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1545
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..1640
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1641..1681
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1682..1807
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1808..1986
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1987..2082
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2083..2164
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2165..2245
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2246..2330
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2331..2654
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2632..2637
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /note="hexamer: AATAAA"
     polyA_site      2654
                     /gene="EZH2"
                     /gene_synonym="ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2"
                     /note="major polyA site"
ORIGIN      
        1 gtttggcgct cggtccggtc gcgtccgaca cccggtggga ctcagaaggc agtggagccc
       61 cggcggcggc ggcggcggcg cgcgggggcg acgcgcggga acaacgcgag tcggcgcgcg
      121 ggacgaagaa taatcatggg ccagactggg aagaaatctg agaagggacc agtttgttgg
      181 cggaagcgtg taaaatcaga gtacatgcga ctgagacagc tcaagaggtt cagacgagct
      241 gatgaagtaa agagtatgtt tagttccaat cgtcagaaaa ttttggaaag aacggaaatc
      301 ttaaaccaag aatggaaaca gcgaaggata cagcctgtgc acatcctgac ttctgtgagc
      361 tcattgcgcg ggactaggga gtgttcggtg accagtgact tggattttcc aacacaagtc
      421 atcccattaa agactctgaa tgcagttgct tcagtaccca taatgtattc ttggtctccc
      481 ctacagcaga attttatggt ggaagatgaa actgttttac ataacattcc ttatatggga
      541 gatgaagttt tagatcagga tggtactttc attgaagaac taataaaaaa ttatgatggg
      601 aaagtacacg gggatagaga atgtgggttt ataaatgatg aaatttttgt ggagttggtg
      661 aatgcccttg gtcaatataa tgatgatgac gatgatgatg atggagacga tcctgaagaa
      721 agagaagaaa agcagaaaga tctggaggat caccgagatg ataaagaaag ccgcccacct
      781 cggaaatttc cttctgataa aatttttgaa gccatttcct caatgtttcc agataagggc
      841 acagcagaag aactaaagga aaaatataaa gaactcaccg aacagcagct cccaggcgca
      901 cttcctcctg aatgtacccc caacatagat ggaccaaatg ctaaatctgt tcagagagag
      961 caaagcttac actcctttca tacgcttttc tgtaggcgat gttttaaata tgactgcttc
     1021 ctacatcgta agtgcaatta ttcttttcat gcaacaccca acacttataa gcggaagaac
     1081 acagaaacag ctctagacaa caaaccttgt ggaccacagt gttaccagca tttggaggga
     1141 gcaaaggagt ttgctgctgc tctcaccgct gagcggataa agaccccacc aaaacgtcca
     1201 ggaggccgca gaagaggacg gcttcccaat aacagtagca ggcccagcac ccccaccatt
     1261 aatgtgctgg aatcaaagga tacagacagt gatagggaag cagggactga aacgggggga
     1321 gagaacaatg ataaagaaga agaagagaag aaagatgaaa cttcgagctc ctctgaagca
     1381 aattctcggt gtcaaacacc aataaagatg aagccaaata ttgaacctcc tgagaatgtg
     1441 gagtggagtg gtgctgaagc ctcaatgttt agagtcctca ttggcactta ctatgacaat
     1501 ttctgtgcca ttgctaggtt aattgggacc aaaacatgta gacaggtgta tgagtttaga
     1561 gtcaaagaat ctagcatcat agctccagct cccgctgagg atgtggatac tcctccaagg
     1621 aaaaagaaga ggaaacaccg gttgtgggct gcacactgca gaaagataca gctgaaaaag
     1681 gacggctcct ctaaccatgt ttacaactat caaccctgtg atcatccacg gcagccttgt
     1741 gacagttcgt gcccttgtgt gatagcacaa aatttttgtg aaaagttttg tcaatgtagt
     1801 tcagagtgtc aaaaccgctt tccgggatgc cgctgcaaag cacagtgcaa caccaagcag
     1861 tgcccgtgct acctggctgt ccgagagtgt gaccctgacc tctgtcttac ttgtggagcc
     1921 gctgaccatt gggacagtaa aaatgtgtcc tgcaagaact gcagtattca gcggggctcc
     1981 aaaaagcatc tattgctggc accatctgac gtggcaggct gggggatttt tatcaaagat
     2041 cctgtgcaga aaaatgaatt catctcagaa tactgtggag agattatttc tcaagatgaa
     2101 gctgacagaa gagggaaagt gtatgataaa tacatgtgca gctttctgtt caacttgaac
     2161 aatgattttg tggtggatgc aacccgcaag ggtaacaaaa ttcgttttgc aaatcattcg
     2221 gtaaatccaa actgctatgc aaaagttatg atggttaacg gtgatcacag gataggtatt
     2281 tttgccaaga gagccatcca gactggcgaa gagctgtttt ttgattacag atacagccag
     2341 gctgatgccc tgaagtatgt cggcatcgaa agagaaatgg aaatcccttg acatctgcta
     2401 cctcctcccc cctcctctga aacagctgcc ttagcttcag gaacctcgag tactgtgggc
     2461 aatttagaaa aagaacatgc agtttgaaat tctgaatttg caaagtactg taagaataat
     2521 ttatagtaat gagtttaaaa atcaactttt tattgccttc tcaccagctg caaagtgttt
     2581 tgtaccagtg aatttttgca ataatgcagt atggtacatt tttcaacttt gaataaagaa
     2641 tacttgaact tgtc
//
