1. Gene
  2. SETDB2 - SET domain bifurcated histone lysine methyltransferase 2 Gene

SETDB2 - SET domain bifurcated histone lysine methyltransferase 2 Gene

Homo sapiens

Also known as CLLD8; CLLL8; KMT1F; C13orf4

Gene ID: 83852 | Gene type: protein coding

About SETDB2

Cytogenetic location: 13q14.2 Genomic coordinates (GRCh38): 13:49,444,274-49,495,003 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
20404330 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SETDB2 Protein Structure

MBD

MBD: Methyl-CpG binding domain (152 - 216)

Pre-SET

Pre-SET: Pre-SET motif (233 - 347)

SET

SET: SET domain (366 - 682)

  • 0
  • 200
  • 400
  • 600
  • 707 a.a.
Protein Preferred Names Protein Names

histone-lysine N-methyltransferase SETDB2

SET domain bifurcated 2

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