Tchem DNMT3B DNA (cytosine-5)-methyltransferase 3B

Protein Summary

Description

Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398). CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]

Uniprot Accession IDs

• Q9UBC3
• A2A2E2
• B4DSM8
• B4DSU1
• E1P5M6
• E1P5M7
• E7EN63
• E9PBF2
• Q9UBD4
• Q9UJQ5
• Q9UKA6
• Q9UNE5
• Q9Y5R9
• Q9Y5S0
• Dnmt3b

Gene Name

• DNMT3B

Ensembl ID

• ENST00000201963
• ENSP00000201963
• ENSG00000088305
• ENST00000328111
• ENSP00000328547
• ENST00000348286
• ENSP00000337764
• ENST00000353855
• ENSP00000313397
• ENST00000443239
• ENSP00000403169
• ENST00000456297
• ENSP00000412305

Symbol

• ICF
• ICF1
• M.HsaIIIB

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.97
biological term	0.97
PubMedID	0.9
protein domain	0.85
disease	0.82

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 985.76   (req: < 5)

Gene RIFs: 392   (req: <= 3)

Antibodies: 479   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 985.76   (req: >= 5)

Gene RIFs: 392   (req: > 3)

Antibodies: 479   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 25

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 12

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0