DNMT3A - DNA methyltransferase 3 alpha Gene
Also Known as TBRS; HESJAS; DNMT3A2; M.HsaIIIA
Species: Homo sapiens
About DNMT3A
This gene has 17 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 144 phenotypes. Ubiquitous expression in placenta (RPKM 5.8), ovary (RPKM 3.9) 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 that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]
DNMT3A Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001320892.2 | NP_001307821.1 | DNA (cytosine-5)-methyltransferase 3A isoform c |
| NM_001320893.1 | NP_001307822.1 | DNA (cytosine-5)-methyltransferase 3A isoform d |
| NM_001375819.1 | NP_001362748.1 | DNA (cytosine-5)-methyltransferase 3A isoform e |
| NM_022552.5 | NP_072046.2 | DNA (cytosine-5)-methyltransferase 3A isoform a |
| NM_153759.3 | NP_715640.2 | DNA (cytosine-5)-methyltransferase 3A isoform b |
| NM_175629.2 | NP_783328.1 | DNA (cytosine-5)-methyltransferase 3A isoform a |
| NM_175630.1 | NP_783329.1 | DNA (cytosine-5)-methyltransferase 3A isoform c |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA (cytosine-5-)-methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
12138111 | GOA |
| enables DNA binding |
EXP
EXP: Inferred from Experiment
|
29414941 | GOA |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
19786833 | GOA |
| enables RNA polymerase II-specific DNA-binding transcription factor binding |
IPI
IPI: Inferred from physical interaction
|
19786833 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
24656771 | GOA |
| enables lncRNA binding |
IDA
IDA: Inferred from direct assay
|
23435381 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16357870 | GOA |
| enables unmethylated CpG binding |
EXP
EXP: Inferred from Experiment
|
29414941 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA methylation-dependent heterochromatin formation |
IMP
IMP: Inferred from mutant phenotype
|
30478443 | GOA |
| involved in negative regulation of gene expression via chromosomal CpG island methylation |
IDA
IDA: Inferred from direct assay
|
12138111 | GOA |
| involved in negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
23042785 | GOA |
| involved in negative regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
19786833 | GOA |
| involved in regulatory ncRNA-mediated heterochromatin formation |
IGI
IGI: Inferred from genetic interaction
|
23435381 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of catalytic complex |
IPI
IPI: Inferred from physical interaction
|
25383530 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
12138111 | GOA |
| located in euchromatin |
IDA
IDA: Inferred from direct assay
|
12138111 | GOA |
| located in nuclear matrix |
IDA
IDA: Inferred from direct assay
|
12138111 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
12138111 | GOA |
DNMT3A Protein Structure
PWWP: PWWP domain (291 - 374)
DNA_methylase: C-5 cytosine-specific DNA methylase (634 - 767)
- 0
- 200
- 400
- 600
- 800
- 912 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA (cytosine-5)-methyltransferase 3A |
|
DNMT3A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DNMT3A | Q9Y6K1 | ZNF513 | Homo sapiens | Q8N8E2 | 32296183 | |
|
Intra
|
DNMT3A | Q9Y6K1 | ZNF513 | Homo sapiens | Q8N8E2 | 32296183 | |
|
Intra
|
DNMT3A | Q9Y6K1 | H3-3A | Homo sapiens | P84243 | 19834512 | |
|
Intra
|
DNMT3A | Q9Y6K1 | H3-3A | Homo sapiens | P84243 | 19834512 | |
|
Intra
|
DNMT3A | Q9Y6K1 | UHRF1 | Homo sapiens | Q96T88 | 19798101 | |
|
Intra
|
DNMT3A | Q9Y6K1 | DNMT3L | Homo sapiens | Q9UJW3-1 | 25383530 | |
|
Intra
|
DNMT3A | Q9Y6K1 | DNMT3L | Homo sapiens | Q9UJW3-1 | 25383530 | |
|
Intra
|
DNMT3A | Q9Y6K1 | DNMT3L | Homo sapiens | Q9UJW3-1 | 25383530 | |
|
Intra
|
DNMT3A | Q9Y6K1 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
DNMT3A | Q9Y6K1 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
DNMT3A | Q9Y6K1 | PRMT5 | Homo sapiens | O14744 | 19234465 | |
|
Intra
|
DNMT3A | Q9Y6K1 | CREM | Homo sapiens | Q03060 | 21976679 | |
|
Intra
|
DNMT3A | Q9Y6K1 | EZH2 | Homo sapiens | Q15910 | 16357870 | |
|
Intra
|
DNMT3A | Q9Y6K1 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
DNMT3A | Q9Y6K1 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
DNMT3A | Q9Y6K1 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
DNMT3A | Q9Y6K1 | MDFI | Homo sapiens | Q99750 | 32296183 | |
|
Intra
|
DNMT3A | Q9Y6K1 | MDFI | Homo sapiens | Q99750 | 32296183 | |
|
Intra
|
DNMT3A | Q9Y6K1 | OTX1 | Homo sapiens | P32242 | 32296183 | |
|
Intra
|
DNMT3A | Q9Y6K1 | OTX1 | Homo sapiens | P32242 | 32296183 | |
|
Intra
|
DNMT3A | Q9Y6K1 | TCL1A | Homo sapiens | P56279 | 31515488 | |
|
Intra
|
DNMT3A | Q9Y6K1 | TCL1A | Homo sapiens | P56279 | 25416956 | |
|
Intra
|
DNMT3A | Q9Y6K1 | SP100 | Homo sapiens | P23497 | 25416956 | |
|
Intra
|
DNMT3A | Q9Y6K1 | SP100 | Homo sapiens | P23497 | 25416956 | |
|
Intra
|
DNMT3A | Q9Y6K1 | SP100 | Homo sapiens | P23497 | 25416956 | |
|
Intra
|
DNMT3A | Q9Y6K1 | SETDB1 | Homo sapiens | Q15047 | 16682412 | |
|
Intra
|
DNMT3A | Q9Y6K1 | DNMT3B | Homo sapiens | Q9UBC3 | 33961781 | |
|
Intra
|
DNMT3A | Q9Y6K1 | DNMT3B | Homo sapiens | Q9UBC3 | 32968275 | |
|
Intra
|
DNMT3A | Q9Y6K1 | DNMT3B | Homo sapiens | Q9UBC3 | 32968275 | |
|
Intra
|
DNMT3A | Q9Y6K1 | EED | Homo sapiens | O75530 | 16357870 |
DNMT3A Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80107 | Dnmt3a Antibody (YA475) | WB, ICC/IF | Human, Mouse |
| HY-P84906 | DNMT3A Antibody (YA4603) | IHC-P, FC, ELISA | Human |
| HY-P84906A | DNMT3A Antibody (YA4603)(PBS only) | IHC-P, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Tatton-Brown-Rahman Syndrome |
|
|
| Heyn-Sproul-Jackson Syndrome |
|
|
| Leukemia, Acute Myeloid |
|
|
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
|
| Specific Learning Disability |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Rahman Syndrome |
|
|
| Myeloproliferative Neoplasm |
|
|
| Plasma Cell Neoplasm |
|
|
| Myeloid Leukemia |
|
|
| Rare Genetic Intellectual Disability |
|
|
| Overgrowth Syndrome |
|
|
| Myelodysplastic Syndrome |
|
|
| Giant Cell Glioblastoma |
|
|
| Gliosarcoma |
|
|
| Myeloma, Multiple |
|
|
| Acute Leukemia |
|
|
| Nervous System Disease |
|
|
| Umbilical Hernia |
|
|
| Leukemia |
|
|
| Glioblastoma |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Congenital Nervous System Abnormality |
|
|
| Lung Cancer |
|
|
| Polycythemia Vera |
|
|
| Myelofibrosis |
|
|
| Vexas Syndrome |
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
|
| Cartilage-Hair Hypoplasia |
|
|
| Angioimmunoblastic T-Cell Lymphoma |
|
|
| Testicular Spermatocytic Seminoma |
|
|
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
|
| Weaver Syndrome |
|
|
| Neuropathy, Hereditary Sensory, Type Ie |
|
|
| Colorectal Cancer |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
|
| Paraganglioma |
|
|
| Chronic Leukemia |
|
|
| Endometrial Cancer |
|
|
| Bone Marrow Cancer |
|
|
| Adult Syndrome |
|
|
| Sotos Syndrome |
|
|
| Chronic Myelomonocytic Leukemia |
|
|
| Hepatocellular Carcinoma |
|
|
| Ovarian Cancer |
|
|
| Mature T-Cell And Nk-Cell Lymphoma |
|
|
| Hyperoxaluria, Primary, Type I |
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
|
| Primary Hyperoxaluria |
|
|
| Acute Myeloid Leukemia With Bcr-Abl1 |
|
|
| Syndromic Intellectual Disability |
|
|
| Essential Thrombocythemia |
|
|
| Prostate Cancer |
|
|
| Gastric Cancer |
|
|
| Medulloblastoma |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Autism |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Systemic Lupus Erythematosus |
|
|
| Alpha-Thalassemia |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Microcephaly |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | DNMT3A | RGD | RGD:1303336 |
| Mus musculus | DNMT3A | MGD | MGI:1261827 |
| Felis catus | DNMT3A | VGNC | VGNC:61562 |
| Bos taurus | DNMT3A | VGNC | VGNC:28146 |
| Canis familiaris | DNMT3A | VGNC | VGNC:40036 |
| Macaca mulatta | DNMT3A | VGNC | VGNC:71959 |
| Others | DNMT3A | NCBI |