DNMT3B, Official Symbol DNMT3Bprovided by HGNC Official Full Name DNA methyltransferase 3 betaprovided by HGNC Primary source HGNC:HGNC:2979 See related Ensembl:ENSG00000088305 MIM:602900; AllianceGenome:HGNC:2979 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ICF; ICF1; FSHD4; M.HsaIIIB Summary 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] Expression Broad expression in testis (RPKM 3.4), skin (RPKM 1.5) and 25 other tissues See more Orthologs mouse all