DNMT3B

Name

DNA methyltransferase 3 beta

Type

protein-coding

Position

32,762,385–32,809,359 (+)

Aliases

FSHD4, ICF, ICF1, M.HsaIIIB

Ensembl

ENSG00000088305

RefSeq RNA

NM_001207055.2, NM_001207056.2, NM_001424351.1, NM_001424352.1, NM_001424353.1

RefSeq protein

NP_001193984.1, NP_001193985.1, NP_001411280.1, NP_001411281.1, NP_001411282.1

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].

via MyGene.info

Gene · Ensembl

DNA methyltransferase 3 beta

Symbol

DNMT3B

Biotype

Protein coding

Organism

Homo sapiens

Location

20:32,762,385-32,809,359

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Image

Protein DNMT3B PDB 1khc.png

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