LOCUS       NM_006892               4336 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens DNA methyltransferase 3 beta (DNMT3B), transcript
            variant 1, mRNA.
ACCESSION   NM_006892
VERSION     NM_006892.4
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 4336)
  AUTHORS   Cho,C.C., Fei,C.Y., Jiang,B.C., Yang,W.Z. and Yuan,H.S.
  TITLE     Molecular mechanisms for DNA methylation defects induced by ICF
            syndrome-linked mutations in DNMT3B
  JOURNAL   Protein Sci 33 (10), e5131 (2024)
   PUBMED   39290110
  REMARK    GeneRIF: Molecular mechanisms for DNA methylation defects induced
            by ICF syndrome-linked mutations in DNMT3B.
REFERENCE   2  (bases 1 to 4336)
  AUTHORS   Zhang,J., Zhang,W., Liu,J., Liu,Y., Jiang,Y., Ainiwaer,A., Chen,H.,
            Gu,Z., Chen,H., Mao,S., Guo,Y., Xu,T., Xu,Y., Wu,Y., Yao,X. and
            Yan,Y.
  TITLE     SOX7 inhibits the malignant progression of bladder cancer via the
            DNMT3B/CYGB axis
  JOURNAL   Mol Biomed 5 (1), 36 (2024)
   PUBMED   39227479
  REMARK    GeneRIF: SOX7 inhibits the malignant progression of bladder cancer
            via the DNMT3B/CYGB axis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4336)
  AUTHORS   Chen,J., Yang,X., Li,Q., Ma,J., Li,H., Wang,L., Chen,Z. and Quan,Z.
  TITLE     Inhibiting DNA methyltransferase DNMT3B confers protection against
            ferroptosis in nucleus pulposus and ameliorates intervertebral disc
            degeneration via upregulating SLC40A1
  JOURNAL   Free Radic Biol Med 220, 139-153 (2024)
   PUBMED   38705495
  REMARK    GeneRIF: Inhibiting DNA methyltransferase DNMT3B confers protection
            against ferroptosis in nucleus pulposus and ameliorates
            intervertebral disc degeneration via upregulating SLC40A1.
REFERENCE   4  (bases 1 to 4336)
  AUTHORS   Engal,E., Sharma,A., Aviel,U., Taqatqa,N., Juster,S.,
            Jaffe-Herman,S., Bentata,M., Geminder,O., Gershon,A., Lewis,R.,
            Kay,G., Hecht,M., Epsztejn-Litman,S., Gotkine,M., Mouly,V.,
            Eiges,R., Salton,M. and Drier,Y.
  TITLE     DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes
            to DUX4 overexpression and FSHD pathogenesis
  JOURNAL   Sci Adv 10 (22), eadn7732 (2024)
   PUBMED   38809976
  REMARK    GeneRIF: DNMT3B splicing dysregulation mediated by SMCHD1 loss
            contributes to DUX4 overexpression and FSHD pathogenesis.
REFERENCE   5  (bases 1 to 4336)
  AUTHORS   Liu,H., Deng,Y., Luo,G., Yang,Y., Xie,B., Diao,H., Chen,M.,
            Chen,L., Xie,P., Kwan,H.Y., Zhao,X. and Sun,X.
  TITLE     DNA methylation of miR-181a-5p mediated by DNMT3b drives renal
            interstitial fibrosis developed from acute kidney injury
  JOURNAL   Epigenomics 16 (13), 945-960 (2024)
   PUBMED   39023272
  REMARK    GeneRIF: DNA methylation of miR-181a-5p mediated by DNMT3b drives
            renal interstitial fibrosis developed from acute kidney injury.
REFERENCE   6  (bases 1 to 4336)
  AUTHORS   Okano,M., Bell,D.W., Haber,D.A. and Li,E.
  TITLE     DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo
            methylation and mammalian development
  JOURNAL   Cell 99 (3), 247-257 (1999)
   PUBMED   10555141
REFERENCE   7  (bases 1 to 4336)
  AUTHORS   Xie,S., Wang,Z., Okano,M., Nogami,M., Li,Y., He,W.W., Okumura,K.
            and Li,E.
  TITLE     Cloning, expression and chromosome locations of the human DNMT3
            gene family
  JOURNAL   Gene 236 (1), 87-95 (1999)
   PUBMED   10433969
REFERENCE   8  (bases 1 to 4336)
  AUTHORS   Robertson,K.D., Uzvolgyi,E., Liang,G., Talmadge,C., Sumegi,J.,
            Gonzales,F.A. and Jones,P.A.
  TITLE     The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate
            mRNA expression in normal tissues and overexpression in tumors
  JOURNAL   Nucleic Acids Res 27 (11), 2291-2298 (1999)
   PUBMED   10325416
REFERENCE   9  (bases 1 to 4336)
  AUTHORS   Okano,M., Xie,S. and Li,E.
  TITLE     Cloning and characterization of a family of novel mammalian DNA
            (cytosine-5) methyltransferases
  JOURNAL   Nat Genet 19 (3), 219-220 (1998)
   PUBMED   9662389
REFERENCE   10 (bases 1 to 4336)
  AUTHORS   Preston,M.K., Tawil,R. and Wang,L.H.
  TITLE     Facioscapulohumeral Muscular Dystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301616
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF331857.1 and AF156487.1.
            
            On May 17, 2019 this sequence version replaced NM_006892.3.
            
            Summary: CpG methylation is an epigenetic modification that is
            important for embryonic development, imprinting, and X-chromosome
            inactivation. Studies in mice have demonstrated that DNA
            methylation is required for mammalian development. This gene
            encodes a DNA methyltransferase which is thought to function in de
            novo methylation, rather than maintenance methylation. The protein
            localizes primarily to the nucleus and its expression is
            developmentally regulated. Mutations in this gene cause the
            immunodeficiency-centromeric instability-facial anomalies (ICF)
            syndrome. Eight alternatively spliced transcript variants have been
            described. The full length sequences of variants 4 and 5 have not
            been determined. [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: AF331857.1, AF156488.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328111.6/ ENSP00000328547.2
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4201              AF331857.1         1-4201
            4202-4336           AF156487.1         3746-3880
FEATURES             Location/Qualifiers
     source          1..4336
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..4336
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /note="DNA methyltransferase 3 beta"
                     /db_xref="GeneID:1789"
                     /db_xref="HGNC:HGNC:2979"
                     /db_xref="MIM:602900"
     exon            1..315
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            316..463
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     CDS             322..2883
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /EC_number="2.1.1.37"
                     /note="isoform 1 is encoded by transcript variant 1; DNA
                     methyltransferase HsaIIIB; DNA MTase HsaIIIB; DNA
                     (cytosine-5)-methyltransferase 3B; DNA
                     (cytosine-5-)-methyltransferase 3 beta; DNA
                     cytosine-5--methyltransferase 3 beta"
                     /codon_start=1
                     /product="DNA (cytosine-5)-methyltransferase 3B isoform 1"
                     /protein_id="NP_008823.1"
                     /db_xref="CCDS:CCDS13205.1"
                     /db_xref="GeneID:1789"
                     /db_xref="HGNC:HGNC:2979"
                     /db_xref="MIM:602900"
                     /translation="MKGDTRHLNGEEDAGGREDSILVNGACSDQSSDSPPILEAIRTP
                     EIRGRRSSSRLSKREVSSLLSYTQDLTGDGDGEDGDGSDTPVMPKLFRETRTRSESPA
                     VRTRNNNSVSSRERHRPSPRSTRGRQGRNHVDESPVEFPATRSLRRRATASAGTPWPS
                     PPSSYLTIDLTDDTEDTHGTPQSSSTPYARLAQDSQQGGMESPQVEADSGDGDSSEYQ
                     DGKEFGIGDLVWGKIKGFSWWPAMVVSWKATSKRQAMSGMRWVQWFGDGKFSEVSADK
                     LVALGLFSQHFNLATFNKLVSYRKAMYHALEKARVRAGKTFPSSPGDSLEDQLKPMLE
                     WAHGGFKPTGIEGLKPNNTQPVVNKSKVRRAGSRKLESRKYENKTRRRTADDSATSDY
                     CPAPKRLKTNCYNNGKDRGDEDQSREQMASDVANNKSSLEDGCLSCGRKNPVSFHPLF
                     EGGLCQTCRDRFLELFYMYDDDGYQSYCTVCCEGRELLLCSNTSCCRCFCVECLEVLV
                     GTGTAAEAKLQEPWSCYMCLPQRCHGVLRRRKDWNVRLQAFFTSDTGLEYEAPKLYPA
                     IPAARRRPIRVLSLFDGIATGYLVLKELGIKVGKYVASEVCEESIAVGTVKHEGNIKY
                     VNDVRNITKKNIEEWGPFDLVIGGSPCNDLSNVNPARKGLYEGTGRLFFEFYHLLNYS
                     RPKEGDDRPFFWMFENVVAMKVGDKRDISRFLECNPVMIDAIKVSAAHRARYFWGNLP
                     GMNRPVIASKNDKLELQDCLEYNRIAKLKKVQTITTKSNSIKQGKNQLFPVVMNGKED
                     VLWCTELERIFGFPVHYTDVSNMGRGARQKLLGRSWSVPVIRHLFAPLKDYFACE"
     exon            464..525
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            526..627
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            628..753
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            754..975
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1134
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1242
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1387
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1447
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1448..1573
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1618
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1698
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1699..1811
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1812..1995
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1996..2080
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            2081..2226
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            2227..2317
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            2318..2466
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            2467..2552
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            2553..2622
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            2623..2741
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            2742..4336
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4316..4321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /note="hexamer: ATTAAA"
     polyA_site      4336
                     /gene="DNMT3B"
                     /gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
                     /note="major polyA site"
ORIGIN      
        1 acccactccc gctgccccgt ccggcccgcg ccgcttcctc gcagcagctg ctcccggctc
       61 cgcggccgca gcccgcgtgg acgctccgag cgccccccga cggacgggac cggctccctg
      121 gcggtcgggc gagcgggcgg caacgctgcc cggccggcag cgctggggtt aagtggccca
      181 agtaaaccta gctcggcgat cggcgccgga gattcgcgag cccagcgccc tgcacggccg
      241 ccagccggcc tcccgccagc cagccccgac ccgcggctcc gccgcccagc cgcgccccag
      301 ccagccctgc ggcaggaaag catgaaggga gacaccaggc atctcaatgg agaggaggac
      361 gccggcggga gggaagactc gatcctcgtc aacggggcct gcagcgacca gtcctccgac
      421 tcgcccccaa tcctggaggc tatccgcacc ccggagatca gaggccgaag atcaagctcg
      481 cgactctcca agagggaggt gtccagtctg ctaagctaca cacaggactt gacaggcgat
      541 ggcgacgggg aagatgggga tggctctgac accccagtca tgccaaagct cttccgggaa
      601 accaggactc gttcagaaag cccagctgtc cgaactcgaa ataacaacag tgtctccagc
      661 cgggagaggc acaggccttc cccacgttcc acccgaggcc ggcagggccg caaccatgtg
      721 gacgagtccc ccgtggagtt cccggctacc aggtccctga gacggcgggc aacagcatcg
      781 gcaggaacgc catggccgtc ccctcccagc tcttacctta ccatcgacct cacagacgac
      841 acagaggaca cacatgggac gccccagagc agcagtaccc cctacgcccg cctagcccag
      901 gacagccagc aggggggcat ggagtccccg caggtggagg cagacagtgg agatggagac
      961 agttcagagt atcaggatgg gaaggagttt ggaatagggg acctcgtgtg gggaaagatc
     1021 aagggcttct cctggtggcc cgccatggtg gtgtcttgga aggccacctc caagcgacag
     1081 gctatgtctg gcatgcggtg ggtccagtgg tttggcgatg gcaagttctc cgaggtctct
     1141 gcagacaaac tggtggcact ggggctgttc agccagcact ttaatttggc caccttcaat
     1201 aagctcgtct cctatcgaaa agccatgtac catgctctgg agaaagctag ggtgcgagct
     1261 ggcaagacct tccccagcag ccctggagac tcattggagg accagctgaa gcccatgttg
     1321 gagtgggccc acgggggctt caagcccact gggatcgagg gcctcaaacc caacaacacg
     1381 caaccagtgg ttaataagtc gaaggtgcgt cgtgcaggca gtaggaaatt agaatcaagg
     1441 aaatacgaga acaagactcg aagacgcaca gctgacgact cagccacctc tgactactgc
     1501 cccgcaccca agcgcctcaa gacaaattgc tataacaacg gcaaagaccg aggggatgaa
     1561 gatcagagcc gagaacaaat ggcttcagat gttgccaaca acaagagcag cctggaagat
     1621 ggctgtttgt cttgtggcag gaaaaacccc gtgtccttcc accctctctt tgaggggggg
     1681 ctctgtcaga catgccggga tcgcttcctt gagctgtttt acatgtatga tgacgatggc
     1741 tatcagtctt actgcactgt gtgctgcgag ggccgagagc tgctgctttg cagcaacacg
     1801 agctgctgcc ggtgtttctg tgtggagtgc ctggaggtgc tggtgggcac aggcacagcg
     1861 gccgaggcca agcttcagga gccctggagc tgttacatgt gtctcccgca gcgctgtcat
     1921 ggcgtcctgc ggcgccggaa ggactggaac gtgcgcctgc aggccttctt caccagtgac
     1981 acggggcttg aatatgaagc ccccaagctg taccctgcca ttcccgcagc ccgaaggcgg
     2041 cccattcgag tcctgtcatt gtttgatggc atcgcgacag gctacctagt cctcaaagag
     2101 ttgggcataa aggtaggaaa gtacgtcgct tctgaagtgt gtgaggagtc cattgctgtt
     2161 ggaaccgtga agcacgaggg gaatatcaaa tacgtgaacg acgtgaggaa catcacaaag
     2221 aaaaatattg aagaatgggg cccatttgac ttggtgattg gcggaagccc atgcaacgat
     2281 ctctcaaatg tgaatccagc caggaaaggc ctgtatgagg gtacaggccg gctcttcttc
     2341 gaattttacc acctgctgaa ttactcacgc cccaaggagg gtgatgaccg gccgttcttc
     2401 tggatgtttg agaatgttgt agccatgaag gttggcgaca agagggacat ctcacggttc
     2461 ctggagtgta atccagtgat gattgatgcc atcaaagttt ctgctgctca cagggcccga
     2521 tacttctggg gcaacctacc cgggatgaac aggcccgtga tagcatcaaa gaatgataaa
     2581 ctcgagctgc aggactgctt ggaatacaat aggatagcca agttaaagaa agtacagaca
     2641 ataaccacca agtcgaactc gatcaaacag gggaaaaacc aacttttccc tgttgtcatg
     2701 aatggcaaag aagatgtttt gtggtgcact gagctcgaaa ggatctttgg ctttcctgtg
     2761 cactacacag acgtgtccaa catgggccgt ggtgcccgcc agaagctgct gggaaggtcc
     2821 tggagcgtgc ctgtcatccg acacctcttc gcccctctga aggactactt tgcatgtgaa
     2881 tagttccagc caggccccaa gcccactggg gtgtgtggca gagccaggac ccaggaggtg
     2941 tgattcctga aggcatcccc aggccctgct cttcctcagc tgtgtgggtc ataccgtgta
     3001 cctcagttcc ctcttgctca gtgggggcag agccacctga ctcttgcagg ggtagcctga
     3061 ggtgccgcct ccttgtgcac aaatcagacc tggctgcttg gagcagccta acacggtgct
     3121 cattttttct tctcctaaaa ctttaaaact tgaagtaggt agcaacgtgg cttttttttt
     3181 ttcccttcct gggtctacca ctcagagaaa caatggctaa gataccaaaa ccacagtgcc
     3241 gacagctctc caatactcag gttaatgctg aaaaatcatc caagacagtt attgcaagag
     3301 tttaattttt gaaaactggc tactgctctg tgtttacaga cgtgtgcagt tgtaggcatg
     3361 tagctacagg acatttttaa gggcccagga tcgttttttc ccagggcaag cagaagagaa
     3421 aatgttgtat atgtctttta cccggcacat tccccttgcc taaatacaag ggctggagtc
     3481 tgcacgggac ctattagagt attttccaca atgatgatga tttcagcagg gatgacgtca
     3541 tcatcacatt cagggctatt ttttccccca caaacccaag ggcaggggcc actcttagct
     3601 aaatccctcc ccgtgactgc aatagaaccc tctggggagc tcaggaaggg gtgtgctgag
     3661 ttctataata taagctgcca tatattttgt agacaagtat ggctcctcca tatctccctc
     3721 ttccctagga gaggagtgtg aagcaaggag cttagataag acaccccctc aaacccattc
     3781 cctctccagg agacctaccc tccacaggca caggtcccca gatgagaagt ctgctaccct
     3841 catttctcat ctttttacta aactcagagg cagtgacagc agtcagggac agacatacat
     3901 ttctcatacc ttccccacat ctgagagatg acagggaaaa ctgcaaagct cggtgctccc
     3961 tttggagatt ttttaatcct tttttattcc ataagaagtc gtttttaggg agaacgggaa
     4021 ttcagacaag ctgcatttca gaaatgctgt cataatggtt tttaacacct tttactcttc
     4081 ttactggtgc tattttgtag aataaggaac aacgttgaca agttttgtgg ggctttttat
     4141 acacttttta aaatctcaaa cttctatttt tatgtttaac gttttcatta aaattttttt
     4201 tgtaactgga gccacgacgt aacaaatatg gggaaaaaac tgtgccttgt ttcaacagtt
     4261 tttgctaatt tttaggctga aagatgacgg atgcctagag tttaccttat gtttaattaa
     4321 aatcagtatt tgtcta
//
