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    DNMT3B DNA methyltransferase 3 beta [ Homo sapiens (human) ]

    Gene ID: 1789, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DNMT3Bprovided by HGNC
    Official Full Name
    DNA methyltransferase 3 betaprovided by HGNC
    Primary source
    HGNC:HGNC:2979
    See related
    Ensembl:ENSG00000088305 MIM:602900; AllianceGenome:HGNC:2979
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ICF; ICF1; FSHD4; M.HsaIIIB
    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]
    Expression
    Broad expression in testis (RPKM 3.4), skin (RPKM 1.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNMT3B in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32762385..32809356)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34489113..34536082)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31350191..31397162)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31277881-31278443 Neighboring gene BCL2 antagonist/killer 1 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:31290694-31291210 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31293307-31294054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31296664-31297170 Neighboring gene Sharpr-MPRA regulatory region 13573 Neighboring gene COMM domain containing 7 Neighboring gene OCT4 hESC enhancer GRCh37_chr20:31310141-31310642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31310711-31311220 Neighboring gene Sharpr-MPRA regulatory region 10337 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31320600-31321468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31321469-31322336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31324911-31325766 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31326137-31326302 Neighboring gene OCT4 hESC enhancer GRCh37_chr20:31328938-31329439 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31329890-31330064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31330109-31330936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12807 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr20:31331824-31332768 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr20:31334657-31335599 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31336541-31337182 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31337183-31337824 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31337825-31338466 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31338467-31339107 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:31339333-31339906 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31339907-31340480 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31340481-31341054 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31343273-31344259 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31344260-31345245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31347799-31348347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31348348-31348895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31349119-31349784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12809 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:31351780-31352445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31353111-31353775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31353776-31354439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31355267-31355868 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31355869-31356470 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31358045-31358546 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31361516-31362222 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31362928-31363633 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31365281-31365829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31365865-31366366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31366868-31367368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31367369-31367869 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31367870-31368371 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31368372-31368872 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31368873-31369873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31374779-31375450 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:31375451-31376121 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31377111-31378042 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr20:31378043-31378972 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:31385992-31387191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31388345-31389148 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31389149-31389952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31391821-31392634 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31394723-31395522 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31395523-31396320 Neighboring gene OCT4 hESC enhancer GRCh37_chr20:31397487-31397988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31408139-31408808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31408809-31409478 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31420386-31420886 Neighboring gene microtubule associated protein RP/EB family member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31428835-31429334 Neighboring gene uncharacterized LOC119746555

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF). Rechavi E, et al. J Clin Immunol, 2016 Nov. PMID 27734333
    2. The -149C>T SNP within the DeltaDNMT3B gene, is not associated with early disease onset in hereditary non-polyposis colorectal cancer. Reeves SG, et al. Cancer Lett, 2008 Jun 28. PMID 18336997
    3. ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing. Gatto S, et al. Nucleic Acids Res, 2017 Jun 2. PMID 28334849, Free PMC Article
    4. Kaempferol Modulates DNA Methylation and Downregulates DNMT3B in Bladder Cancer. Qiu W, et al. Cell Physiol Biochem, 2017. PMID 28278502
    5. miR-148 targets human DNMT3b protein coding region. Duursma AM, et al. RNA, 2008 May. PMID 18367714, Free PMC Article

    See all (491) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SOX7 inhibits the malignant progression of bladder cancer via the DNMT3B/CYGB axis.
      Title: SOX7 inhibits the malignant progression of bladder cancer via the DNMT3B/CYGB axis.
    2. Molecular mechanisms for DNA methylation defects induced by ICF syndrome-linked mutations in DNMT3B.
      Title: Molecular mechanisms for DNA methylation defects induced by ICF syndrome-linked mutations in DNMT3B.
    3. DNA methylation of miR-181a-5p mediated by DNMT3b drives renal interstitial fibrosis developed from acute kidney injury.
      Title: DNA methylation of miR-181a-5p mediated by DNMT3b drives renal interstitial fibrosis developed from acute kidney injury.
    4. DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.
      Title: DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.
    5. Inhibiting DNA methyltransferase DNMT3B confers protection against ferroptosis in nucleus pulposus and ameliorates intervertebral disc degeneration via upregulating SLC40A1.
      Title: Inhibiting DNA methyltransferase DNMT3B confers protection against ferroptosis in nucleus pulposus and ameliorates intervertebral disc degeneration via upregulating SLC40A1.
    6. An updated meta-analysis investigating the association between DNMTs gene polymorphism andgastric cancer risk.
      Title: An updated meta-analysis investigating the association between DNMTs gene polymorphism andgastric cancer risk.
    7. The interaction of RELN-DNMT genes involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility.
      Title: The interaction of RELN-DNMT genes involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility.
    8. Tunable DNMT1 degradation reveals DNMT1/DNMT3B synergy in DNA methylation and genome organization.
      Title: Tunable DNMT1 degradation reveals DNMT1/DNMT3B synergy in DNA methylation and genome organization.
    9. ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming.
      Title: ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming.
    10. Structural basis for the allosteric regulation and dynamic assembly of DNMT3B.
      Title: Structural basis for the allosteric regulation and dynamic assembly of DNMT3B.
    Submit: New GeneRIF Correction See all GeneRIFs (399)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Facioscapulohumeral muscular dystrophy 4, digenic
    MedGen: C5561960 OMIM: 619478 GeneReviews: Not available
    		Compare labs
    Immunodeficiency-centromeric instability-facial anomalies syndrome 1
    MedGen: C4551557 OMIM: 242860 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates DNMT1, DNMT3A, and DNMT3B both at the mRNA and protein levels in primary tumors PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA (cytosine-5-)-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA (cytosine-5-)-methyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables DNA (cytosine-5-)-methyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA (cytosine-5-)-methyltransferase activity, acting on CpN substrates IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA (cytosine-5-)-methyltransferase activity, acting on CpNpG substrates IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-methyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of catalytic complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA (cytosine-5)-methyltransferase 3B
    Names
    DNA (cytosine-5-)-methyltransferase 3 beta
    DNA MTase HsaIIIB
    DNA cytosine-5--methyltransferase 3 beta
    DNA methyltransferase HsaIIIB
    NP_001193984.1
    NP_001193985.1
    NP_001411280.1
    NP_001411281.1
    NP_001411282.1
    NP_001411283.1
    NP_001411284.1
    NP_001411285.1
    NP_001411286.1
    NP_001411287.1
    NP_001411288.1
    NP_001411289.1
    NP_008823.1
    NP_787044.1
    NP_787045.1
    NP_787046.1
    XP_047295902.1
    XP_047295905.1
    XP_047295906.1
    XP_047295911.1
    XP_047295912.1
    XP_047295915.1
    XP_047295916.1
    XP_054179091.1
    XP_054179094.1
    XP_054179095.1
    XP_054179101.1
    XP_054179102.1
    XP_054179106.1
    XP_054179107.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007290.1 RefSeqGene

      Range
      5001..51972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_56

    mRNA and Protein(s)

    1. NM_001207055.2 → NP_001193984.1  DNA (cytosine-5)-methyltransferase 3B isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks several in-frame exons compared to variant 1. The resulting isoform (7) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AF156487, AF176228, AF331857, AK299915
      Consensus CDS
      CCDS56183.1
      UniProtKB/TrEMBL
      A0A2Z2CIT2
      Related
      ENSP00000403169.2, ENST00000443239.7
      Conserved Domains (3) summary
      cd05835
      Location:181 → 267
      Dnmt3b_related; The PWWP domain is an essential component of DNA methyltransferase 3 B (Dnmt3b) which is responsible for establishing DNA methylation patterns during embryogenesis and gametogenesis. In tumorigenesis, DNA methylation by Dnmt3b is known to play a role in ...
      COG0270
      Location:512 → 674
      Dcm; Site-specific DNA-cytosine methylase [Replication, recombination and repair]
      cd11728
      Location:369 → 488
      ADDz_Dnmt3b; ADDz domain found in DNA (cytosine-5) methyltransferases (C5-MTases) 3b (Dnmt3b)

    2. NM_001207056.2 → NP_001193985.1  DNA (cytosine-5)-methyltransferase 3B isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks several in-frame exons compared to variant 1. The resulting isoform (8) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AF156487, AF176228, AF331857, AK299821, AK299915
      Consensus CDS
      CCDS56184.1
      UniProtKB/TrEMBL
      A0A2Z2CIT2
      Related
      ENSP00000412305.1, ENST00000456297.6
      Conserved Domains (3) summary
      cd05835
      Location:147 → 233
      Dnmt3b_related; The PWWP domain is an essential component of DNA methyltransferase 3 B (Dnmt3b) which is responsible for establishing DNA methylation patterns during embryogenesis and gametogenesis. In tumorigenesis, DNA methylation by Dnmt3b is known to play a role in ...
      COG0270
      Location:478 → 640
      Dcm; Site-specific DNA-cytosine methylase [Replication, recombination and repair]
      cd11728
      Location:335 → 454
      ADDz_Dnmt3b; ADDz domain found in DNA (cytosine-5) methyltransferases (C5-MTases) 3b (Dnmt3b)

    3. NM_001424351.1 → NP_001411280.1  DNA (cytosine-5)-methyltransferase 3B isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL035071
      UniProtKB/TrEMBL
      A0A2Z2CIT2

    4. NM_001424352.1 → NP_001411281.1  DNA (cytosine-5)-methyltransferase 3B isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL035071
      UniProtKB/TrEMBL
      A0A2Z2CIT2

    5. NM_001424353.1 → NP_001411282.1  DNA (cytosine-5)-methyltransferase 3B isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL035071
      UniProtKB/TrEMBL
      A0A2Z2CIT2

    6. NM_001424354.1 → NP_001411283.1  DNA (cytosine-5)-methyltransferase 3B isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL035071
      UniProtKB/TrEMBL
      A0A2Z2CIT2

    7. NM_001424355.1 → NP_001411284.1  DNA (cytosine-5)-methyltransferase 3B isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL035071
      UniProtKB/TrEMBL
      A0A2Z2CIT2, A0A8Q3SIG2
      Related
      ENSP00000512498.1, ENST00000696232.1

    8. NM_001424356.1 → NP_001411285.1  DNA (cytosine-5)-methyltransferase 3B isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL035071
      UniProtKB/TrEMBL
      A0A2Z2CIT2

    9. NM_001424357.1 → NP_001411286.1  DNA (cytosine-5)-methyltransferase 3B isoform 15

      Status: REVIEWED

      Source sequence(s)
      AL035071
      UniProtKB/TrEMBL
      A0A2Z2CIT2

    10. NM_001424358.1 → NP_001411287.1  DNA (cytosine-5)-methyltransferase 3B isoform 16

      Status: REVIEWED

      Source sequence(s)
      AL035071
      UniProtKB/TrEMBL
      A0A2Z2CIT2

    11. NM_001424359.1 → NP_001411288.1  DNA (cytosine-5)-methyltransferase 3B isoform 17

      Status: REVIEWED

      Source sequence(s)
      AL035071
      UniProtKB/TrEMBL
      A0A2Z2CIT2

    12. NM_001424360.1 → NP_001411289.1  DNA (cytosine-5)-methyltransferase 3B isoform 18

      Status: REVIEWED

      Source sequence(s)
      AL035071
      UniProtKB/TrEMBL
      A0A2Z2CIT2

    13. NM_006892.4 → NP_008823.1  DNA (cytosine-5)-methyltransferase 3B isoform 1

      See identical proteins and their annotated locations for NP_008823.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF156487, AF331857
      Consensus CDS
      CCDS13205.1
      UniProtKB/Swiss-Prot
      A2A2E2, B4DSM8, B4DSU1, E1P5M6, E1P5M7, E7EN63, E9PBF2, Q9UBC3, Q9UBD4, Q9UJQ5, Q9UKA6, Q9UNE5, Q9Y5R9, Q9Y5S0
      UniProtKB/TrEMBL
      A0A2Z2CIT2
      Related
      ENSP00000328547.2, ENST00000328111.6
      Conserved Domains (3) summary
      cd05835
      Location:223 → 309
      Dnmt3b_related; The PWWP domain is an essential component of DNA methyltransferase 3 B (Dnmt3b) which is responsible for establishing DNA methylation patterns during embryogenesis and gametogenesis. In tumorigenesis, DNA methylation by Dnmt3b is known to play a role in ...
      COG0270
      Location:574 → 756
      Dcm; Site-specific DNA-cytosine methylase [Replication, recombination and repair]
      cd11728
      Location:431 → 550
      ADDz_Dnmt3b; ADDz domain found in DNA (cytosine-5) methyltransferases (C5-MTases) 3b (Dnmt3b)

    14. NM_175848.2 → NP_787044.1  DNA (cytosine-5)-methyltransferase 3B isoform 2

      See identical proteins and their annotated locations for NP_787044.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. Isoform 2 is shorter than isoform 1.
      Source sequence(s)
      AF156487, AF176228, AF331857
      Consensus CDS
      CCDS13206.1
      UniProtKB/TrEMBL
      A0A2Z2CIT2
      Related
      ENSP00000313397.4, ENST00000353855.6
      Conserved Domains (3) summary
      cd05835
      Location:223 → 309
      Dnmt3b_related; The PWWP domain is an essential component of DNA methyltransferase 3 B (Dnmt3b) which is responsible for establishing DNA methylation patterns during embryogenesis and gametogenesis. In tumorigenesis, DNA methylation by Dnmt3b is known to play a role in ...
      cd11728
      Location:411 → 530
      ADDz_Dnmt3b; ADDz domain found in DNA (cytosine-5) methyltransferases (C5-MTases) 3b (Dnmt3b)
      cl30459
      Location:554 → 736
      Cyt_C5_DNA_methylase; Cytosine-C5 specific DNA methylases; Methyl transfer reactions play an important role in many aspects of biology. Cytosine-specific DNA methylases are found both in prokaryotes and eukaryotes. DNA methylation, or the covalent addition of a methyl group ...

    15. NM_175849.2 → NP_787045.1  DNA (cytosine-5)-methyltransferase 3B isoform 3

      See identical proteins and their annotated locations for NP_787045.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks three exons in the coding region but maintains the reading frame, compared to variant 1. Isoform 3 is shorter than isoform 1.
      Source sequence(s)
      AF156487, AF176228, AF331857
      Consensus CDS
      CCDS13207.1
      UniProtKB/TrEMBL
      A0A2Z2CIT2
      Related
      ENSP00000337764.2, ENST00000348286.6
      Conserved Domains (3) summary
      cd05835
      Location:223 → 309
      Dnmt3b_related; The PWWP domain is an essential component of DNA methyltransferase 3 B (Dnmt3b) which is responsible for establishing DNA methylation patterns during embryogenesis and gametogenesis. In tumorigenesis, DNA methylation by Dnmt3b is known to play a role in ...
      cd11728
      Location:411 → 530
      ADDz_Dnmt3b; ADDz domain found in DNA (cytosine-5) methyltransferases (C5-MTases) 3b (Dnmt3b)
      cl30459
      Location:554 → 716
      Cyt_C5_DNA_methylase; Cytosine-C5 specific DNA methylases; Methyl transfer reactions play an important role in many aspects of biology. Cytosine-specific DNA methylases are found both in prokaryotes and eukaryotes. DNA methylation, or the covalent addition of a methyl group ...

    16. NM_175850.3 → NP_787046.1  DNA (cytosine-5)-methyltransferase 3B isoform 6

      See identical proteins and their annotated locations for NP_787046.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate exon in the 5' UTR and coding region that introduces an upstream start codon, compared to variant 1. Variant 6 also lacks an in-frame exon in the coding region, compared to variant 1. Isoform 6 is shorter and has a unique N-terminus, compared to isoform 1.
      Source sequence(s)
      AF156487, AF176228, AF331857
      Consensus CDS
      CCDS13204.1
      UniProtKB/TrEMBL
      A0A2Z2CIT2
      Related
      ENSP00000201963.3, ENST00000201963.3
      Conserved Domains (3) summary
      cd05835
      Location:235 → 321
      Dnmt3b_related; The PWWP domain is an essential component of DNA methyltransferase 3 B (Dnmt3b) which is responsible for establishing DNA methylation patterns during embryogenesis and gametogenesis. In tumorigenesis, DNA methylation by Dnmt3b is known to play a role in ...
      COG0270
      Location:566 → 748
      Dcm; Site-specific DNA-cytosine methylase [Replication, recombination and repair]
      cd11728
      Location:423 → 542
      ADDz_Dnmt3b; ADDz domain found in DNA (cytosine-5) methyltransferases (C5-MTases) 3b (Dnmt3b)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      32762385..32809356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439946.1 → XP_047295902.1  DNA (cytosine-5)-methyltransferase 3B isoform X1

      UniProtKB/TrEMBL
      A0A2Z2CIT2

    2. XM_047439949.1 → XP_047295905.1  DNA (cytosine-5)-methyltransferase 3B isoform X4

      UniProtKB/TrEMBL
      A0A2Z2CIT2

    3. XM_047439956.1 → XP_047295912.1  DNA (cytosine-5)-methyltransferase 3B isoform X12

      UniProtKB/TrEMBL
      A0A2Z2CIT2

    4. XM_047439950.1 → XP_047295906.1  DNA (cytosine-5)-methyltransferase 3B isoform X5

      UniProtKB/TrEMBL
      A0A2Z2CIT2

    5. XM_047439955.1 → XP_047295911.1  DNA (cytosine-5)-methyltransferase 3B isoform X11

      UniProtKB/TrEMBL
      A0A2Z2CIT2

    6. XM_047439959.1 → XP_047295915.1  DNA (cytosine-5)-methyltransferase 3B isoform X16

    7. XM_047439960.1 → XP_047295916.1  DNA (cytosine-5)-methyltransferase 3B isoform X17

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      34489113..34536082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323116.1 → XP_054179091.1  DNA (cytosine-5)-methyltransferase 3B isoform X1

      UniProtKB/TrEMBL
      A0A2Z2CIT2

    2. XM_054323119.1 → XP_054179094.1  DNA (cytosine-5)-methyltransferase 3B isoform X4

      UniProtKB/TrEMBL
      A0A2Z2CIT2

    3. XM_054323127.1 → XP_054179102.1  DNA (cytosine-5)-methyltransferase 3B isoform X12

      UniProtKB/TrEMBL
      A0A2Z2CIT2

    4. XM_054323120.1 → XP_054179095.1  DNA (cytosine-5)-methyltransferase 3B isoform X5

      UniProtKB/TrEMBL
      A0A2Z2CIT2

    5. XM_054323126.1 → XP_054179101.1  DNA (cytosine-5)-methyltransferase 3B isoform X11

      UniProtKB/TrEMBL
      A0A2Z2CIT2

    6. XM_054323131.1 → XP_054179106.1  DNA (cytosine-5)-methyltransferase 3B isoform X16

    7. XM_054323132.1 → XP_054179107.1  DNA (cytosine-5)-methyltransferase 3B isoform X17

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBC3.1 GenPept UniProtKB/Swiss-Prot:Q9UBC3

    Gene LinkOut

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