DNMT3B - DNA methyltransferase 3 beta Gene
Also Known as ICF; ICF1; FSHD4; M.HsaIIIB
Species: Homo sapiens
About DNMT3B
This gene has 21 transcripts (splice variants), 217 orthologues, 4 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 3.4), skin (RPKM 1.5) and 25 other tissues.
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]
DNMT3B Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001207055.2 | NP_001193984.1 | DNA (cytosine-5)-methyltransferase 3B isoform 7 |
| NM_001207056.2 | NP_001193985.1 | DNA (cytosine-5)-methyltransferase 3B isoform 8 |
| NM_006892.4 | NP_008823.1 | DNA (cytosine-5)-methyltransferase 3B isoform 1 |
| NM_175848.2 | NP_787044.1 | DNA (cytosine-5)-methyltransferase 3B isoform 2 |
| NM_175849.2 | NP_787045.1 | DNA (cytosine-5)-methyltransferase 3B isoform 3 |
| NM_175850.3 | NP_787046.1 | DNA (cytosine-5)-methyltransferase 3B isoform 6 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA (cytosine-5-)-methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
16543361 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11735126 | GOA |
| enables transcription corepressor activity |
IDA
IDA: Inferred from direct assay
|
17303076 | GOA |
| enables transcription corepressor activity |
IMP
IMP: Inferred from mutant phenotype
|
18567530 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
17303076 | GOA |
| involved in positive regulation of gene expression |
IMP
IMP: Inferred from mutant phenotype
|
18413740 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of catalytic complex |
IPI
IPI: Inferred from physical interaction
|
32083663 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
17303076 | GOA |
DNMT3B Protein Structure
PWWP: PWWP domain (224 - 307)
DNA_methylase: C-5 cytosine-specific DNA methylase (575 - 708)
- 0
- 200
- 400
- 600
- 800
- 853 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA (cytosine-5)-methyltransferase 3B |
|
DNMT3B Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DNMT3B | Q9UBC3 | UHRF1 | Homo sapiens | Q96T88 | 19798101 | |
|
Intra
|
DNMT3B | Q9UBC3 | EZH2 | Homo sapiens | Q15910 | 27728808 | |
|
Intra
|
DNMT3B | Q9UBC3 | EZH2 | Homo sapiens | Q15910 | 22094255 | |
|
Intra
|
DNMT3B | Q9UBC3 | EZH2 | Homo sapiens | Q15910 | 22094255 | |
|
Intra
|
DNMT3B | Q9UBC3 | EZH2 | Homo sapiens | Q15910 | 16357870 | |
|
Intra
|
DNMT3B | Q9UBC3 | SUMO1 | Homo sapiens | P63165 | 11735126 | |
|
Intra
|
DNMT3B | Q9UBC3 | SUMO1 | Homo sapiens | P63165 | 11735126 | |
|
Intra
|
DNMT3B | Q9UBC3 | UBE2I | Homo sapiens | P63279 | 11735126 | |
|
Intra
|
DNMT3B | Q9UBC3 | EED | Homo sapiens | O75530 | 22094255 | |
|
Intra
|
DNMT3B | Q9UBC3 | EED | Homo sapiens | O75530 | 22094255 |
DNMT3B Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82061 | Dnmt3b Antibody (YA1806) | WB, ICC/IF | Human, Mouse, Rat |
| HY-P84853 | Dnmt3b Antibody (YA4550) | ICC/IF, FC, ELISA | Human |
| HY-P84853A | Dnmt3b Antibody (YA4550)(PBS only) | ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
|
| Facioscapulohumeral Muscular Dystrophy 4, Digenic |
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
|
| Facioscapulohumeral Muscular Dystrophy 1 |
|
|
| Thrombocytopenic Purpura, Autoimmune |
|
|
| Tatton-Brown-Rahman Syndrome |
|
|
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
|
| Muscular Dystrophy |
|
|
| Macroglossia |
|
|
| Testicular Spermatocytic Seminoma |
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
|
| Colorectal Cancer |
|
|
| Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
|
| Acute Leukemia |
|
|
| Digenic Disease |
|
|
| Nasopharyngeal Carcinoma |
|
|
| Breast Cancer |
|
|
| Endometrial Cancer |
|
|
| Lung Cancer |
|
|
| Cartilage-Hair Hypoplasia |
|
|
| Burkitt Lymphoma |
|
|
| Adult Syndrome |
|
|
| Bladder Cancer |
|
|
| Immune Deficiency Disease |
|
|
| Gastric Cancer |
|
|
| Tetralogy Of Fallot |
|
|
| Hepatocellular Carcinoma |
|
|
| Syndromic X-Linked Intellectual Disability Nascimento Type |
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
|
| Non-Syndromic X-Linked Intellectual Disability 93 |
|
|
| Neuropathy, Hereditary Sensory, Type Ie |
|
|
| Hyperoxaluria, Primary, Type I |
|
|
| Primary Hyperoxaluria |
|
|
| Ovarian Cancer |
|
|
| Myelodysplastic Syndrome |
|
|
| Prostate Cancer |
|
|
| Sotos Syndrome |
|
|
| Rhabdomyosarcoma |
|
|
| Weaver Syndrome |
|
|
| Squamous Cell Carcinoma, Head And Neck |
|
|
| Autosomal Dominant Intellectual Developmental Disorder 31 |
|
|
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
|
| Medulloblastoma |
|
|
| Thrombocytopenia |
|
|
| Wolf-Hirschhorn Syndrome |
|
|
| Alpha-Thalassemia |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Syndromic Intellectual Disability |
|
|
| Leukemia, Acute Myeloid |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | DNMT3B | VGNC | VGNC:28147 |
| Rattus norvegicus | DNMT3B | RGD | RGD:1303274 |
| Mus musculus | DNMT3B | MGD | MGI:1261819 |
| Canis familiaris | DNMT3B | VGNC | VGNC:40037 |
| Macaca mulatta | DNMT3B | VGNC | VGNC:71960 |
| Felis catus | DNMT3B | VGNC | VGNC:61563 |
| Others | DNMT3B | NCBI |