Dnmt3b - DNA methyltransferase 3B Gene
Also Known as MmuIIIB
Species: Mus musculus
Summary
This is one of two related genes encoding de novo DNA methyltransferases, which are responsible for the establishment of DNA methylation patterns in embryos. Loss of function of this gene results in severe developmental defects and loss of viability. Mutation of the related gene in humans causes immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. There is a pseudogene for this gene located adjacent to this gene in the same region of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Nov 2012]
Dnmt3b Products (9)
| mRNA | Protein | Name |
|---|---|---|
| NM_001003960.4 | NP_001003960.2 | DNA (cytosine-5)-methyltransferase 3B isoform 2 |
| NM_001003961.4 | NP_001003961.2 | DNA (cytosine-5)-methyltransferase 3B isoform 1 |
| NM_001003963.4 | NP_001003963.2 | DNA (cytosine-5)-methyltransferase 3B isoform 4 |
| NM_001122997.2 | NP_001116469.1 | DNA (cytosine-5)-methyltransferase 3B isoform 5 |
| NM_001271744.1 | NP_001258673.1 | DNA (cytosine-5)-methyltransferase 3B isoform 1 |
| NM_001271745.1 | NP_001258674.1 | DNA (cytosine-5)-methyltransferase 3B isoform 2 |
| NM_001271746.1 | NP_001258675.1 | DNA (cytosine-5)-methyltransferase 3B isoform 4 |
| NM_001271747.1 | NP_001258676.1 | DNA (cytosine-5)-methyltransferase 3B isoform 3 |
| NM_010068.5 | NP_034198.3 | DNA (cytosine-5)-methyltransferase 3B isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA (cytosine-5-)-methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
9662389 | MGI |
| enables DNA (cytosine-5-)-methyltransferase activity |
IGI
IGI: Inferred from genetic interaction
|
17938196 | MGI |
| enables DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates |
IDA
IDA: Inferred from direct assay
|
27856912 | MGI |
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
21378119 | MGI |
| enables lncRNA binding |
IDA
IDA: Inferred from direct assay
|
25686699 | MGI |
| enables methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
11919202 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11934864 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in chromosome, centromeric region |
IDA
IDA: Inferred from direct assay
|
15456878 | MGI |
| located in heterochromatin |
IDA
IDA: Inferred from direct assay
|
11934864 | MGI |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
16543361 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA (cytosine-5)-methyltransferase 3B |
|