SETDB2

Proteins that contain a SET domain, such as SETDB2, modulate gene expression epigenetically through histone H3 (see MIM 601128) methylation. SETDB2 is likely a histone H3 methyltransferase, as it contains both the active site and flanking cysteine residues required for catalytic activity (Zhang et al., 2003 [PubMed 12754510]).[supplied by OMIM

Full Name

SET domain, bifurcated 2

Function

Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis.

Biological Process

Biological Process cell divisionIEA:UniProtKB-KW
Biological Process chromosome segregationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process heart loopingISS:UniProtKB
Biological Process heterochromatin organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process histone H3-K9 methylationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process left/right axis specificationISS:UniProtKB
Biological Process mitotic cell cycleManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of DNA-templated transcriptionISS:UniProtKB
Biological Process negative regulation of gene expressionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of DNA methylation-dependent heterochromatin assemblyManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Nucleus
Chromosome