SETDB2 - SET domain bifurcated histone lysine methyltransferase 2 Gene
Also Known as CLLD8; CLLL8; KMT1F; C13orf4
Species: Homo sapiens
About SETDB2
This gene has 4 transcripts (splice variants), 219 orthologues and 19 paralogues. Ubiquitous expression in testis (RPKM 6.5), lymph node (RPKM 5.5) and 25 other tissues.
Summary
This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
SETDB2 Products (9)
| mRNA | Protein | Name |
|---|---|---|
| NM_001160308.3 | NP_001153780.1 | histone-lysine N-methyltransferase SETDB2 isoform b |
| NM_001320699.2 | NP_001307628.1 | histone-lysine N-methyltransferase SETDB2 isoform c |
| NM_001393975.1 | NP_001380904.1 | histone-lysine N-methyltransferase SETDB2 isoform d |
| NM_001393976.1 | NP_001380905.1 | histone-lysine N-methyltransferase SETDB2 isoform e |
| NM_001393977.1 | NP_001380906.1 | histone-lysine N-methyltransferase SETDB2 isoform f |
| NM_001393978.1 | NP_001380907.1 | histone-lysine N-methyltransferase SETDB2 isoform g |
| NM_001393979.1 | NP_001380908.1 | histone-lysine N-methyltransferase SETDB2 isoform h |
| NM_001393980.1 | NP_001380909.1 | histone-lysine N-methyltransferase SETDB2 isoform i |
| NM_031915.3 | NP_114121.2 | histone-lysine N-methyltransferase SETDB2 isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables histone H3K9 methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
20404330 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in chromosome segregation |
IMP
IMP: Inferred from mutant phenotype
|
20404330 | GOA |
| involved in mitotic cell cycle |
IMP
IMP: Inferred from mutant phenotype
|
20404330 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
20404330 | GOA |
SETDB2 Protein Structure
MBD: Methyl-CpG binding domain (152 - 216)
Pre-SET: Pre-SET motif (233 - 347)
SET: SET domain (366 - 682)
- 0
- 200
- 400
- 600
- 707 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
histone-lysine N-methyltransferase SETDB2 |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | SETDB2 | MGD | MGI:2685139 |
| Rattus norvegicus | SETDB2 | RGD | RGD:2319564 |
| Canis familiaris | SETDB2 | VGNC | VGNC:46061 |
| Macaca mulatta | SETDB2 | VGNC | VGNC:77282 |
| Bos taurus | SETDB2 | VGNC | VGNC:34500 |
| Felis catus | SETDB2 | VGNC | VGNC:108502 |
| Others | SETDB2 | NCBI |