DNMT3L
DNA Methyltransferase 3 Like
Gene Information Card
| Symbol | DNMT3L |
|---|---|
| Full Name | DNA methyltransferase 3 like |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 29947 ncbi.nlm.nih.gov/gene/29947 |
| Ensembl ID | ENSG00000142168 |
| UniProt ID | Q9UJW3 |
| OMIM ID | 606769 |
| HGNC ID | 2980 |
| Aliases | DNMT3L, DNA (cytosine-5-)-methyltransferase 3-like |
Description
DNMT3L encodes a protein that lacks intrinsic DNA methyltransferase activity but acts as a regulatory factor for de novo DNA methyltransferases DNMT3A and DNMT3B. It is essential for establishing maternal genomic imprinting and methylation patterns in germ cells, particularly during oogenesis. DNMT3L also plays a role in silencing retrotransposons and maintaining genome integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| H19 hypomethylation (Silver-Russell syndrome-like) | Loss of DNMT3L function leads to failure of maternal imprint establishment at the IGF2-H19 locus, causing hypomethylation and altered gene expression. | ClinVar, OMIM |
| Ovarian dysgenesis | DNMT3L mutations impair oocyte methylation, leading to defective germ cell development and premature ovarian failure. | OMIM, NCBI |
| Spermatogenic failure | DNMT3L deficiency disrupts methylation of retrotransposons in male germ cells, causing meiotic arrest and infertility. | OMIM, NCBI |
| Cancer (various) | DNMT3L overexpression or aberrant expression contributes to global hypomethylation and genomic instability in tumors. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.0 | Not detected |
| HeLa | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.632C>T (p.Pro211Leu) | Missense | Rare | Impaired interaction with DNMT3A, reduced methylation activity |
| c.1063C>T (p.Arg355*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt DNMT3L protein expression or its ability to bind DNMT3A/DNMT3B, leading to hypomethylation and imprinting defects.
Gain of Function (GOF)
Not reported; DNMT3L lacks catalytic activity, so gain-of-function is unlikely.
Dominant Negative (DN)
Some missense mutations may interfere with DNMT3A/3B complex formation, but dominant-negative effects are not well documented.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • chromatin binding |
| • protein homodimerization activity | • DNA methyltransferase activity |
| • regulation of DNA methylation | • germ cell development |
| • oogenesis | • spermatogenesis |
| • genomic imprinting | • negative regulation of transposon integration |
Pathways
• DNA methylation
• Genomic imprinting
• Germ cell development
Protein Summary
DNMT3L is a 387-amino acid protein (UniProt Q9UJW3) that lacks catalytic methyltransferase activity but serves as a stimulatory factor for DNMT3A and DNMT3B. It contains an N-terminal PHD-like domain and a C-terminal domain that interacts with the catalytic domains of DNMT3A/3B, enhancing their methylation efficiency. DNMT3L is predominantly expressed in germ cells and embryonic stem cells, where it is crucial for establishing maternal imprints and silencing retrotransposons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNMT3L Knockout HEK293 Cell Line | EDJ-KQ9096 | Human | 29947 | Details Get a Quote |
| DNMT3L Knockout HeLa Cell Line | EDJ-KQ56127 | Human | 29947 | Details Get a Quote |
| DNMT3L Knockout A-549 Cell Line | EDJ-KQ64613 | Human | 29947 | Details Get a Quote |
| DNMT3L Knockout HCT 116 Cell Line | EDJ-KQ73066 | Human | 29947 | Details Get a Quote |
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